HLA-DRB1 Gene
protein-coding GIFtS: 63
GCID: GC06M032546
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|
major histocompatibility complex, class II, DR beta 1 (Previous symbol: HLA-DR1B)
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Aliases for HLA-DRB1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Major Histocompatibility Complex, Class II, DR Beta 11 2 | | DR133 | | HLA-DR1B1 2 5 | | DR143 | | DRw102 3 | | DR163 | | DW2.2/DR2.22 3 | | DR43 | | SS12 5 | | DR53 | | DRB12 | | DR73 | | HLA-DRB2 | | DR83 | | HLA Class II Histocompatibility Antigen, DR-1 Beta Chain2 | | DR93 | | Human Leucocyte Antigen DRB12 | | DRw113 | | Lymphocyte Antigen DRB12 | | DRw83 | | MHC Class II Antigen2 | | HLA-DRB23 | | MHC Class II HLA-DR Beta 1 Chain2 | | Clone P2-Beta-33 | | MHC Class II HLA-DR-Beta Cell Surface Glycoprotein2 | | MHC Class II Antigen DRB1*13 | | MHC Class II HLA-DRw10-Beta2 | | MHC Class II Antigen DRB1*103 | | DR-13 | | MHC Class II Antigen DRB1*113 | | DR-123 | | MHC Class II Antigen DRB1*123 | | DR-133 | | MHC Class II Antigen DRB1*133 | | DR-143 | | MHC Class II Antigen DRB1*143 | | DR-163 | | MHC Class II Antigen DRB1*153 | | DR-43 | | MHC Class II Antigen DRB1*163 | | DR-53 | | MHC Class II Antigen DRB1*33 | | DR-73 | | MHC Class II Antigen DRB1*43 | | DR-83 | | MHC Class II Antigen DRB1*73 | | DR-93 | | MHC Class II Antigen DRB1*83 | | DR13 | | MHC Class II Antigen DRB1*93 | | DR123 | | |
Export aliases for HLA-DRB1 gene to outside databasesPrevious GC identifers: GC06U990049 GC06Md32547 GC06M032317 GC06Md32654 GC06M032656 |
Summaries for HLA-DRB1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for HLA-DRB1: HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha(DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system bypresenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells(APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes thetransmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all thepolymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typingfor these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a levelfive times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6,DRB7, DRB8 and DRB9. (provided by RefSeq, Jul 2008) UniProtKB/ace: 2B11_HUMAN, P04229 (see all)Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) andpresents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptidesof 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteinsthat access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenousantigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, andfor this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on theirway to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomalcompartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also asource of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In additionto APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents anantigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in theER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigenprocessing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving asmall fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DMvia direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II moleculesuntil primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transportedto the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated byHLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in theregulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis andefficient peptide loading Gene Wiki entry for HLA-DRB1
|
Genomic Views for HLA-DRB1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NT_113891.2 NT_167248.1 NC_000006.11 NC_018917.1 NT_007592.15 NT_167249.1
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HLA-DRB1 gene promoter: HOXA3 AML1a p53 CUTL1 CBF-C YY1 CBF-B CBF-A CP1A CBF(2) Other transcription factors
Search SABiosciences Chromatin IP Primers for HLA-DRB1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HLA-DRB1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.32 HGNC cytogenetic band: 6p21.3HLA-DRB1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M032546: view genomic region
(about GC identifiers)
Start:
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32,546,546 bp from pter |
End:
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32,557,625 bp from pter |
Size:
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11,080 bases |
Orientation:
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minus strand |
2 alternative locations:
| Chr6-,ALT_REF_LOCI_2 32,475,947-32,528,486 | Chr6-,ALT_REF_LOCI_7 32,510,207-32,722,298 |
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Proteins for HLA-DRB1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: 2B11_HUMAN, P04229 (See
protein sequence)Recommended Name: HLA class II histocompatibility antigen, DRB1-1 beta chain precursor Size: 266 amino acids; 29914 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
6/39 PDB 3D structures from and Proteopedia for HLA-DRB1 (see all 39):1AQD (3D)
  1DLH (3D)
  1FYT (3D)
  1HXY (3D)
  1JWM (3D)
  1JWS (3D)
 
Secondary accessions: A4F5N0 A8K098 O62869 P13758 Q06662 Q30116 Q30117 Q5Y7E9 Q7M2H4 Q95461 Q9BCL7Q9GIK5 Q9MXZ0 Q9MXZ5 Q9TQ91UniProtKB/Swiss-Prot: 2B13_HUMAN, P01912 (See
protein sequence) Recommended Name: HLA class II histocompatibility antigen, DRB1-3 chain precursor Size: 266 amino acids; 30120 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
1 PDB 3D structure from and Proteopedia for HLA-DRB1:1A6A (3D)
 UniProtKB/Swiss-Prot: 2B14_HUMAN, P13760 (See
protein sequence) Recommended Name: HLA class II histocompatibility antigen, DRB1-4 beta chain precursor Size: 266 amino acids; 30112 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
6/8 PDB 3D structures from and Proteopedia for HLA-DRB1 (see all 8):1D5M (3D)
  1D5X (3D)
  1D5Z (3D)
  1D6E (3D)
  1J8H (3D)
  2SEB (3D)
 
Secondary accessions: O19717 O19739 P13759 Q29875 Q30145 Q9GIX9 Q9GIY4 Q9MY13 Q9XRY5UniProtKB/Swiss-Prot: 2B17_HUMAN, P13761 (See
protein sequence) Recommended Name: HLA class II histocompatibility antigen, DRB1-7 beta chain precursor Size: 266 amino acids; 29822 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
Secondary accessions: B0UYW1 O46699 O46872UniProtKB/Swiss-Prot: 2B18_HUMAN, Q30134 (See
protein sequence) Recommended Name: HLA class II histocompatibility antigen, DRB1-8 beta chain precursor Size: 266 amino acids; 30004 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
Secondary accessions: O19718 O19788 Q29968 Q30108 Q30115 Q9BCP0 Q9BCP1 Q9BCP2 Q9BD33 Q9TQ37 Q9UIM9UniProtKB/Swiss-Prot: 2B19_HUMAN, Q9TQE0 (See
protein sequence) Recommended Name: HLA class II histocompatibility antigen, DRB1-9 beta chain precursor Size: 266 amino acids; 29826 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
Secondary accessions: Q30149UniProtKB/Swiss-Prot: 2B1A_HUMAN, Q30167 (See
protein sequence) Recommended Name: HLA class II histocompatibility antigen, DRB1-10 beta chain precursor Size: 266 amino acids; 30002 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
Secondary accessions: P01914 Q9MYF5UniProtKB/Swiss-Prot: 2B1B_HUMAN, P20039 (See
protein sequence) Recommended Name: HLA class II histocompatibility antigen, DRB1-11 beta chain precursor Size: 266 amino acids; 30160 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
Secondary accessions: Q30006 Q9GIX8UniProtKB/Swiss-Prot: 2B1C_HUMAN, Q95IE3 (See
protein sequence) Recommended Name: HLA class II histocompatibility antigen, DRB1-12 beta chain precursor Size: 266 amino acids; 29878 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
Secondary accessions: A7LA26 B0LUZ6 B6VCX2 B7UDB2 O19585 Q19AF2 Q29771 Q2L9H4 Q2MZ92 Q5EER6 Q5NDB9Q5UT58 Q5Y7G0 Q768U4 Q7YP04 Q861H8 Q95IT6 Q9BD40UniProtKB/Swiss-Prot: 2B1D_HUMAN, Q5Y7A7 (See
protein sequence) Recommended Name: HLA class II histocompatibility antigen, DRB1-13 beta chain precursor Size: 266 amino acids; 30008 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
Sequence caution: Sequence=CAB40418.1; Type=Erroneous gene model prediction;
Secondary accessions: A0MWF2 A2ICT1 A4ZXA5 A4ZXA6 A7UHG2 A7X5K7 A8YQE9 B0BK85 B3VTQ3 B5A8Y2 B5A8Y3B5B9V6 B5QSK8 C0LAB5 O02930 O62889 O78047 P79545 Q14280 Q14QT2 Q19K86 Q1G0Z9 Q1KLJ6 Q29673 Q29720Q29722 Q29806 Q29833 Q29874 Q29886 Q2MF40 Q2YHQ2 Q30112 Q3LA93 Q3LA94 Q3LA95 Q3LA96 Q3LA97 Q3LA98Q3LA99 Q3LAA0 Q3LAA1 Q3LAA2 Q3MQ60 Q53IG1 Q56FP2 Q56FP3 Q58F52 Q5K3W2 Q5UBA2 Q5W3L4 Q6REE2 Q6U387Q701T1 Q70Q85 Q768U2 Q7YP03 Q7YQ26 Q7YQA3 Q860E5 Q860H8 Q860Z3 Q861G6 Q861H0 Q861H4 Q8HWQ6 Q8WMA0Q95389 Q95HL1 Q96HZ9 Q9BCP5 Q9BD21 Q9GIP3 Q9GJ25 Q9GJ60 Q9GJF8 Q9GJF9 Q9GJG0 Q9MY45 Q9MY56 Q9TPW3Q9TPW9 Q9TPX4 Q9UBY1 Q9UIN0 Q9XRX1 Q9Y453UniProtKB/Swiss-Prot: 2B1E_HUMAN, Q9GIY3 (See
protein sequence) Recommended Name: HLA class II histocompatibility antigen, DRB1-14 beta chain precursor Size: 266 amino acids; 30139 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
Sequence caution: Sequence=CAB45249.1; Type=Erroneous gene model prediction;
Secondary accessions: A0N0W1 A2TGX3 A4ZY86 A5H000 A5HKN8 A7DZP9 A7X5B1 A7X5B7 A7X5E0 A7X5E6 A7X5H8A9JPG0 B1GWE7 B2CR03 B2LVF9 B2NJ29 B2ZCY1 B3VTP8 B5B8U0 B5B9V5 B5LZ25 B6VEL9 B9VRA4 B9X248 O02876O46793 O77969 O78210 Q0PQ39 Q155F7 Q1AP33 Q1JRP3 Q27PR6 Q27PR7 Q29734 Q29770 Q29772 Q29800 Q2A120Q2HZE5 Q2LE76 Q2MJA6 Q2VQU1 Q307W5 Q31636 Q3LA87 Q3LA88 Q3LA89 Q3LA90 Q3LA91 Q3LA92 Q3T919 Q4PRC3Q4PRC5 Q4VZY7 Q56FP1 Q5BM92 Q5U9W6 Q683P7 Q70GL2 Q7YNY9 Q7YQA5 Q860D8 Q860D9 Q860S0 Q861H5 Q861H7Q8MH59 Q8MH60 Q8WLU3 Q95348 Q95HK1 Q95HL0 Q95IG2 Q9GIL5 Q9GIL6 Q9GIY0 Q9GIY1 Q9GIY2 Q9GJ56 Q9GJ57Q9GJ58 Q9TPB6 Q9TPW1 Q9XRY4 Q9Y4H7UniProtKB/Swiss-Prot: 2B1F_HUMAN, P01911 (See
protein sequence) Recommended Name: HLA class II histocompatibility antigen, DRB1-15 beta chain precursor Size: 266 amino acids; 29966 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
Miscellaneous: The chain shown constituted about 70% of a pool of at least seven similar beta chains
3 PDB 3D structures from and Proteopedia for HLA-DRB1:1BX2 (3D)
  1YMM (3D)
  2WBJ (3D)
 
Secondary accessions: Q29790 Q29975 Q30142 Q30166 Q32MY7 Q56FN9 Q5Y7B0 Q5Y7B9UniProtKB/Swiss-Prot: 2B1G_HUMAN, Q29974 (See
protein sequence) Recommended Name: HLA class II histocompatibility antigen, DRB1-16 beta chain precursor Size: 266 amino acids; 30030 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmicreticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariantchain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoessequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHCclass II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding ofantigenic peptides
Subcellular location: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-passtype I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosomemembrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosomemembrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number ofintracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation
Secondary accessions: A7X5J4 O98212 Q0PGR5 Q29792 Q30120 Q30159 Q30200 Q3HUP9 Q3KTM1 Q3LA84 Q6T865Q95383Explore the universe of human proteins at neXtProt for HLA-DRB1: NX_Q29974
Post-translational modifications:
Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHCclass II (Probable)1
View modification sites using PhosphoSitePlus2 (HLA-DRB4)View neXtProt modification sites for NX_Q29974 HLA-DRB1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001230894.1 NP_002115.2 ENSEMBL proteins: ENSP00000353099 Reactome Protein details: Q30167 Q5Y7A7 P04229 Q9TQE0 Q9GIY3 P01911 Q29974 P20039 Q95IE3 P01912 P13760 Q30134 P13761 Human Recombinant Protein Products:
Gene Ontology (GO): 5/17 cellular component terms (GO ID links to tree view) (see all 17): About this table
HLA-DRB1 for ontologies About GeneDecksing
HLA-DRB1 Antibody Products: Assay Products for HLA-DRB1: |
Protein
Domains / Families for HLA-DRB1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HLA-DRB1 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry P04229Graphical View of Domain Structure for InterPro Entry P01912Graphical View of Domain Structure for InterPro Entry P13760Graphical View of Domain Structure for InterPro Entry P13761Graphical View of Domain Structure for InterPro Entry Q30134Graphical View of Domain Structure for InterPro Entry Q9TQE0Graphical View of Domain Structure for InterPro Entry Q30167Graphical View of Domain Structure for InterPro Entry P20039Graphical View of Domain Structure for InterPro Entry Q95IE3Graphical View of Domain Structure for InterPro Entry Q5Y7A7Graphical View of Domain Structure for InterPro Entry Q9GIY3Graphical View of Domain Structure for InterPro Entry P01911Graphical View of Domain Structure for InterPro Entry Q29974ProtoNet protein and cluster: P04229 2 Blocks protein families: IPB000353 Class II histocompatibility antigen IPB003597 Immunoglobulin C-type
UniProtKB/Swiss-Prot: 2B11_HUMAN, P04229Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 2B13_HUMAN, P01912Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 2B14_HUMAN, P13760Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 2B17_HUMAN, P13761Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 2B18_HUMAN, Q30134Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 2B19_HUMAN, Q9TQE0Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 2B1A_HUMAN, Q30167Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 2B1B_HUMAN, P20039Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 2B1C_HUMAN, Q95IE3Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 2B1D_HUMAN, Q5Y7A7Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 2B1E_HUMAN, Q9GIY3Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 2B1F_HUMAN, P01911Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 2B1G_HUMAN, Q29974Similarity: Belongs to the MHC class II familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain |
Function for HLA-DRB1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/ace: 2B11_HUMAN, P04229 (see all)Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) andpresents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptidesof 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteinsthat access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenousantigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, andfor this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on theirway to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomalcompartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also asource of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In additionto APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents anantigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in theER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigenprocessing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving asmall fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DMvia direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II moleculesuntil primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transportedto the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated byHLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in theregulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis andefficient peptide loading Genatlas biochemistry entry for HLA-DRB1:HLA-DR,beta 1 chain,determining DR1,3,4,5 etc
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-DRB1 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-DRB1 (see all 5) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HLA-DRB1 (NM_002124) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HLA-DRB1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLA-DRB1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DRB1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
HLA-DRB1 for ontologies About GeneDecksing
|
Pathways & Interactions for HLA-DRB1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/34 super-pathways (see all 34) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Transport of MHC II:Ii complex along Golgi to TGN | | | 2 | Translocation of ZAP-70 to Immunological synapse | | | 3 | Cytokine Signaling in Immune system | | | 4 | Immune System | | | 5 | Interferon gamma signaling | |
Pathway sources See GeneCards unified pathways Show all pathways
5/6 EMD Millipore Pathways for HLA-DRB1 (see all 6) 5/12 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HLA-DRB1 (see all 12) 5/6 GeneGo (Thomson Reuters) Pathways for HLA-DRB1 (see all 6) 5 BioSystems Pathways for HLA-DRB1 
5/20
Reactome Pathways for HLA-DRB1 (see all 20)
5/18
Kegg Pathways (Kegg details for HLA-DRB1) (see all 18):
HLA-DRB1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HLA-DRB1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/198 Interacting proteins for HLA-DRB1 (P019122 P042292 ENSP000003530994 Q299742, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 198)About this table
Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0002381 | immunoglobulin production involved in immunoglobulin mediated immune response |
ISS | -- | | GO:0002437 | inflammatory response to antigenic stimulus |
ISS | -- | | GO:0002455 | humoral immune response mediated by circulating immunoglobulin |
ISS | -- | | GO:0002504 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II |
-- | -- | | GO:0006955 | immune response |
NAS | -- |
HLA-DRB1 for ontologies About GeneDecksing
|
Drugs & Compounds for HLA-DRB1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
HLA-DRB1 for compounds About GeneDecksing
Browse Tocris compounds for HLA-DRB1
1 DrugBank Compound for HLA-DRB1 About this table
10/17 Novoseek chemical compound relationships for HLA-DRB1 gene (see all 17) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dr-10 |
77.3 |
6 |
7780115 (1), 9550403 (1), 8754259 (1), 10626740 (1) |
| dr-16 |
73.6 |
1 |
9243764 (1) |
| dpa 1 |
73.1 |
5 |
8782076 (1), 8863870 (1), 17060025 (1), 10616003 (1), 8948898 (1) (see top 4) |
| oligonucleotide |
53.4 |
22 |
8117375 (1), 12823773 (1), 15865503 (1), 18718089 (1), 2249880 (1), 8436419 (1), 10225816 (1), 12144622 (1), 16467040 (1), 17288808 (1), 8565245 (1), 8863870 (1), 15898419 (1), 20448347 (1), 1416553 (1), 10331158 (1), 15952133 (1), 8147928 (1), 18244920 (1), 9876896 (1) (see top 4) |
| gold sodium thiomalate |
36 |
2 |
11093435 (1) |
| valine |
30.5 |
4 |
9098452 (1), 8500529 (1), 10439317 (1), 2369430 (1) |
| amino acid |
19.7 |
1 |
1533151 (1) |
| c-peptide |
4.17 |
1 |
15388265 (1) |
| atp |
3.36 |
2 |
12658812 (2) |
| lysine |
0 |
2 |
7738179 (1), 7612412 (1) |
Search CenterWatch for drugs/clinical trials and news about HLA-DRB1 / 2B1G 
|
Transcripts for HLA-DRB1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for HLA-DRB1 gene (2 alternative transcripts): NM_001243965.1 NM_002124.3 Unigene Clusters for HLA-DRB1: Major histocompatibility complex, class II, DR beta 1 Hs.534322 [show with all ESTs], Hs.696211 [show with all ESTs], Hs.736560 [show with all ESTs]Unigene Representative Sequences: AK290388, AK225690, BG4845131 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000360004(uc021yvx.1 uc003obp.4 uc011dqb.1 uc011dqc.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-DRB1 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-DRB1 (see all 5) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HLA-DRB1 (NM_002124) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HLA-DRB1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLA-DRB1  |
Additional cDNA sequence: AF004817.1 AJ580838.1 D86415.1 M15070.1 M17386.1 M25266.1 M27014.1 M59798.1 24/70 DOTS entries (see all 70): DT.92410344 DT.92028787 DT.91706875 DT.95164729 DT.92047682 DT.100776434 DT.95164752 DT.92382901 DT.95164731 DT.121314547 DT.87079048 DT.40115364 DT.100781798 DT.100778733 DT.100650571 DT.100766538 DT.121314746 DT.92380890 DT.121314807 DT.95230813 DT.97857272 DT.95164743 DT.91802323 DT.92467723 24/89 AceView cDNA sequences (see all 89): M16731 X02902 BV207240 M17381 BV183568 BV201637 L42143 AH002891 AJ245881 AF291675 AJ297586 BV207185 M15073 AJ536121 BC024269 BV207249 BV207188 U84892 BV207191 X12544 BV200472 BV207037 BV200469 BV207182 GeneLoc Exon Structure
|
Expression for HLA-DRB1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HLA-DRB1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: ACAGCGCTGA
About this image See HLA-DRB1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HLA-DRB1
SOURCE GeneReport for Unigene clusters: Hs.534322 Hs.696211 Hs.736560 SABiosciences Expression via Pathway-Focused PCR Arrays including HLA-DRB1:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HLA-DRB1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HLA-DRB1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HLA-DRB1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLA-DRB1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DRB1 |
Orthologs for HLA-DRB1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for HLA-DRB1 gene from 3/9 species (see all 9) About this table
ENSEMBL Gene Tree for HLA-DRB1 (if available) TreeFam Gene Tree for HLA-DRB1 (if available)  |
Paralogs for HLA-DRB1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for HLA-DRB1 gene
- HLA-DRB52 HLA-DQA12 HLA-DPA12 HLA-DQB12 HLA-DRA2 HLA-DOB2 HLA-DMA2 HLA-DQB22
- ENSG000002489932 HLA-DOA2 HLA-DMB2 HLA-DQA22 HLA-DPB12
18/233 SIMAP similar genes for HLA-DRB1 using alignment to 1823 protein entries: 2B11_HUMAN (see all proteins)
(see all similar genes):HLA DRB4 HLA-DRB1*0402 HLA-DRB1*0407 HLA-DRB1*1301 HLA-DRB1*1302 HLA-DRB1*1402 HLA-All HLA-A null HLA-A*03 HLA-DRB13 HLA-DRB1*1605 HLA-B27 HLA-DRB1*1327 HLA-Cw3 HLA-DRB14 HLA-D8.2V HLA DRB1 HLA-DRB4$0101
HLA-DRB1 for paralogs About GeneDecksing
|
Genomic Variants for HLA-DRB1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
| UniProtKB/Swiss-Prot: 2B1G_HUMAN, Q29974Polymorphism: The following alleles of DRB1-1 are known: DRB1*01:01; DRB1*01:02; DRB1*01:03; DRB1*01:04; DRB1*01:05;DRB1*01:06; DRB1*01:07; DRB1*01:08; DRB1*01:09; DRB1*01:10; DRB1*01:11; DRB1*01:12; DRB1*01:13; DRB1*01:14;DRB1*01:15; DRB1*01:16; DRB1*01:17; DRB1*01:18; DRB1*01:19; DRB1*01:20 and DRB1*01:21. The sequence shown is that ofDRB1*01:01Polymorphism: The following alleles of DRB1-3 are known: DRB1*03:01; DRB1*03:02; DRB1*03:03; DRB1*03:04; DRB1*03:05;DRB1*03:06; DRB1*03:07; DRB1*03:08; DRB1*03:09; DRB1*03:10; DRB1*03:11; DRB1*03:12; DRB1*03:13; DRB1*03:14;DRB1*03:15; DRB1*03:16; DRB1*03:17; DRB1*03:18; DRB1*03:19; DRB1*03:20; DRB1*03:21; DRB1*03:22; DRB1*03:23;DRB1*03:24; DRB1*03:25; DRB1*03:26; DRB1*03:27; DRB1*03:28; DRB1*03:29; DRB1*03:30; DRB1*03:31; DRB1*03:32;DRB1*03:33; DRB1*03:34; DRB1*03:35; DRB1*03:36; DRB1*03:37; DRB1*03:38; DRB1*03:39; DRB1*03:40 and DRB1*03:41. Thesequence shown is that of DRB1*03:01Polymorphism: The following alleles of DRB1-4 are known: DRB1*04:01, DRB1*04:02, DRB1*04:03, DRB1*04:04, DRB1*04:05,DRB1*04:06, DRB1*04:07, DRB1*04:08, DRB1*04:09, DRB1*04:10, DRB1*04:11, DRB1*04:12, DRB1*04:13, DRB1*04:14,DRB1*04:15, DRB1*04:16, DRB1*04:17, DRB1*04:18, DRB1*04:19, DRB1*04:20, DRB1*04:21, DRB1*04:22, DRB1*04:23,DRB1*04:24, DRB1*04:25, DRB1*04:26, DRB1*04:27, DRB1*04:28, DRB1*04:29, DRB1*04:30, DRB1*04:31, DRB1*04:32,DRB1*04:33, DRB1*04:34, DRB1*04:35, DRB1*04:36, DRB1*04:37, DRB1*04:38, DRB1*04:39, DRB1*04:40, DRB1*04:41,DRB1*04:42, DRB1*04:43, DRB1*04:44, DRB1*04:45, DRB1*04:46, DRB1*04:47, DRB1*04:48, DRB1*04:49, DRB1*04:50,DRB1*04:51, DRB1*04:52, DRB1*04:53, DRB1*04:54, DRB1*04:55, DRB1*04:56, DRB1*04:57, DRB1*04:58, DRB1*04:59,DRB1*04:60, DRB1*04:61, DRB1*04:62, DRB1*04:63, DRB1*04:64, DRB1*04:65, DRB1*04:66, DRB1*04:67, DRB1*04:68,DRB1*04:69, DRB1*04:70, DRB1*04:71, DRB1*04:72, DRB1*04:73, DRB1*04:74, DRB1*04:75, DRB1*04:76, DRB1*04:77 andDRB1*04:78. The sequence shown is that of DRB1*04:01Polymorphism: The following alleles of DRB1-7 are known: DRB1*07:01, DRB1*07:03, DRB1*07:04, DRB1*07:05, DRB1*07:06,DRB1*07:07, DRB1*07:08, DRB1*07:09, DRB1*07:11, DRB1*07:12, DRB1*07:13, DRB1*07:14, DRB1*07:15, DRB1*07:16 andDRB1*07:17. The sequence shown is that of DRB1*07:01Polymorphism: Allele DRB1*07:01 is associated with persistent hepatitis C virus (HCV) infections [MIM:609532]Polymorphism: The following alleles of DRB1-8 are known: DRB1*08:01 (Dw8.1), DRB1*08:02 (Dw8.2; DRB1L), DRB1*08:03(Dw8.3); DRB1*08:04; DRB1*08:05, DRB1*08:06, DRB1*08:07, DRB1*08:08, DRB1*08:09, DRB1*08:10, DRB1*08:11, DRB1*08:12,DRB1*08:13, DRB1*08:14, DRB1*08:15, DRB1*08:16, DRB1*08:17, DRB1*08:18, DRB1*08:19, DRB1*08:20, DRB1*08:21,DRB1*08:22, DRB1*08:23, DRB1*08:24, DRB1*08:25, DRB1*08:26, DRB1*08:27, DRB1*08:28, DRB1*08:29, DRB1*08:30,DRB1*08:31, DRB1*08:32, DRB1*08:33, DRB1*08:34, DRB1*08:35 and DRB1*08:36. The sequence shown is that of DRB1*08:01Polymorphism: The following alleles of DRB1-9 are known: DRB1*09:01, DRB1*09:02, DRB1*09:03, DRB1*09:04, DRB1*09:05,DRB1*09:06, DRB1*09:07 and DRB1*09:08. The sequence shown is that of DRB1*09:01Polymorphism: The following alleles of DRB1-10 are known: DRB1*10:01; DRB1*10:02 and DRB1*10:03. The sequence shown isthat of DRB1*10:01Polymorphism: The following alleles of DRB1-11 are known: DRB1*11:01, DRB1*11:03, DRB1*11:04, DRB1*11:05, DRB1*11:06,DRB1*11:07, DRB1*11:08, DRB1*11:09, DRB1*11:10, DRB1*11:11, DRB1*11:12, DRB1*11:13, DRB1*11:14, DRB1*11:15,DRB1*11:16, DRB1*11:17, DRB1*11:18, DRB1*11:19, DRB1*11:20, DRB1*11:21, DRB1*11:22, DRB1*11:23, DRB1*11:24,DRB1*11:25, DRB1*11:26, DRB1*11:27, DRB1*11:28, DRB1*11:29, DRB1*11:30, DRB1*11:31, DRB1*11:32, DRB1*11:33,DRB1*11:34, DRB1*11:35, DRB1*11:36, DRB1*11:37, DRB1*11:38, DRB1*11:39, DRB1*11:40, DRB1*11:41, DRB1*11:42,DRB1*11:43, DRB1*11:44, DRB1*11:45, DRB1*11:46, DRB1*11:47, DRB1*11:48, DRB1*11:49, DRB1*11:50, DRB1*11:51,DRB1*11:52, DRB1*11:53, DRB1*11:54, DRB1*11:55, DRB1*11:56, DRB1*11:57, DRB1*11:58, DRB1*11:59, DRB1*11:60,DRB1*11:61, DRB1*11:62, DRB1*11:63, DRB1*11:64, DRB1*11:65, DRB1*11:66, DRB1*11:67, DRB1*11:68, DRB1*11:69, DRB1*11:70and DRB1*11:72. The sequence shown is that of DRB1*11:01Polymorphism: Allele DRB1*11:01 is associated with self-limiting hepatitis C virus (HCV) infections [MIM:609532]Polymorphism: The following alleles of DRB1-12 are known: DRB1*12:01, DRB1*12:02, DRB1*12:03, DRB1*12:04, DRB1*12:05,DRB1*12:06, DRB1*12:07, DRB1*12:08, DRB1*12:09, DRB1*12:10, DRB1*12:11, DRB1*12:12, DRB1*12:13, DRB1*12:14,DRB1*12:15, DRB1*12:16, DRB1*12:17, DRB1*12:18 and DRB1*12:19. The sequence shown is that of DRB1*12:01Polymorphism: The following alleles of DRB1-13 are known: DRB1*13:01, DRB1*13:02, DRB1*13:03, DRB1*13:04, DRB1*13:05,DRB1*13:06, DRB1*13:07, DRB1*13:08, DRB1*13:09, DRB1*13:10, DRB1*13:11, DRB1*13:12, DRB1*13:13, DRB1*13:14,DRB1*13:15, DRB1*13:16, DRB1*13:17, DRB1*13:18, DRB1*13:19, DRB1*13:20, DRB1*13:21, DRB1*13:22, DRB1*13:23,DRB1*13:24, DRB1*13:25, DRB1*13:26, DRB1*13:27, DRB1*13:28, DRB1*13:29, DRB1*13:30, DRB1*13:31, DRB1*13:32,DRB1*13:33, DRB1*13:34, DRB1*13:35, DRB1*13:36, DRB1*13:37, DRB1*13:38, DRB1*13:39, DRB1*13:40, DRB1*13:41,DRB1*13:42, DRB1*13:43, DRB1*13:44, DRB1*13:45, DRB1*13:46, DRB1*13:47, DRB1*13:48, DRB1*13:49, DRB1*13:50,DRB1*13:51, DRB1*13:52, DRB1*13:53, DRB1*13:54, DRB1*13:55, DRB1*13:56, DRB1*13:57, DRB1*13:58, DRB1*13:59,DRB1*13:60, DRB1*13:61, DRB1*13:62, DRB1*13:63, DRB1*13:64, DRB1*13:65, DRB1*13:66, DRB1*13:67, DRB1*13:68,DRB1*13:69, DRB1*13:70, DRB1*13:71, DRB1*13:72, DRB1*13:73, DRB1*13:74, DRB1*13:75, DRB1*13:76, DRB1*13:77,DRB1*13:78, DRB1*13:79, DRB1*13:80, DRB1*13:81, DRB1*13:82, DRB1*13:83, DRB1*13:84, DRB1*13:85, DRB1*13:86, DRB1*13:87and DRB1*13:88. The sequence shown is that of DRB1*13:01Polymorphism: The following alleles of DRB1-14 are known: DRB1*14:01, DRB1*14:02, DRB1*14:03, DRB1*14:04, DRB1*14:05,DRB1*14:06, DRB1*14:07, DRB1*14:08, DRB1*14:09, DRB1*14:10, DRB1*14:11, DRB1*14:12, DRB1*14:13, DRB1*14:14,DRB1*14:15, DRB1*14:16, DRB1*14:17, DRB1*14:18, DRB1*14:19, DRB1*14:20, DRB1*14:21, DRB1*14:22, DRB1*14:23,DRB1*14:24, DRB1*14:25, DRB1*14:26, DRB1*14:27, DRB1*14:28, DRB1*14:29, DRB1*14:30, DRB1*14:31, DRB1*14:32,DRB1*14:33, DRB1*14:34, DRB1*14:35, DRB1*14:36, DRB1*14:37, DRB1*14:38, DRB1*14:39, DRB1*14:40, DRB1*14:41,DRB1*14:42, DRB1*14:43, DRB1*14:44, DRB1*14:45, DRB1*14:46, DRB1*14:47, DRB1*14:48, DRB1*14:49, DRB1*14:50,DRB1*14:51, DRB1*14:52, DRB1*14:53, DRB1*14:54, DRB1*14:55, DRB1*14:56, DRB1*14:57, DRB1*14:58, DRB1*14:59,DRB1*14:60, DRB1*14:61, DRB1*14:62, DRB1*14:63, DRB1*14:64, DRB1*14:65, DRB1*14:67, DRB1*14:68, DRB1*14:69,DRB1*14:70, DRB1*14:71, DRB1*14:72, DRB1*14:73, DRB1*14:74, DRB1*14:75, DRB1*14:76, DRB1*14:77, DRB1*14:78,DRB1*14:79, DRB1*14:80, DRB1*14:81, DRB1*14:82, DRB1*14:83, DRB1*14:84 and DRB1*14:85. The sequence shown is that ofDRB1*14:01Polymorphism: The following alleles of DRB1-15 are known: DRB1*15:01, DRB1*15:02, DRB1*15:03, DRB1*15:04, DRB1*15:05,DRB1*15:06, DRB1*15:07, DRB1*15:08, DRB1*15:09, DRB1*15:10, DRB1*15:11, DRB1*15:12, DRB1*15:13, DRB1*15:14,DRB1*15:15, DRB1*15:16, DRB1*15:18, DRB1*15:19, DRB1*15:20, DRB1*15:21, DRB1*15:22, DRB1*15:23, DRB1*15:24,DRB1*15:25, DRB1*15:26, DRB1*15:27, DRB1*15:28, DRB1*15:29, DRB1*15:30, DRB1*15:31 and DRB1*15:32. The sequence shownis that of DRB1*15:01Polymorphism: The following alleles of DRB1-16 are known: DRB1*16:01; DRB1*16:02; DRB1*16:03; DRB1*16:04; DRB1*16:05;DRB1*16:07; DRB1*16:08; DRB1*16:09; DRB1*16:10; DRB1*16:11 and DRB1*16:12. The sequence shown is that of DRB1*16:02
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 6 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for HLA-DRB1 (32546546 - 32557625 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 22 variations for HLA-DRB1 15/20 CNVs (see all 20): 7567 69436 37840 69447 69420 4767 4493 64476 3603 69431 69407 69452 81340 69421 93647 2 Indels: 33807 12831 Human Gene Mutation Database (HGMD): HLA-DRB1
Locus Specific Mutation Databases (LSDB): HLA-DRB1
 | SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases for HLA-DRB1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HLA-DRB1 for disorders About GeneDecksing
OMIM gene information: 142857 OMIM disorders: 181000 126200 180300 UniProtKB/Swiss-Prot: 2B1G_HUMAN, Q29974
Genetic variation in HLA-DRB1 is a cause of susceptibility to sarcoidosis type 1 (SS1) [MIM:181000].Sarcoidosis is an idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas ininvolved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen,eyes and other organs may be involved 20/358 diseases for HLA-DRB1 (see all 358): About MalaCardsvogt-koyanagi-harada disease pure red-cell aplasia sarcoidosis, susceptibility l, 1 kleine-levin syndrome alpha 1-antitrypsin deficiency 21-hydroxylase deficiency graft versus host disease pars planitis adult-onset still's disease porphyria cutanea tarda polymyalgia rheumatica epidermolysis bullosa acquisita relapsing-remitting multiple sclerosis churg-strauss syndrome rhizomelic pseudopolyarthritis avascular necrosis of femoral head paroxysmal nocturnal hemoglobinuria toxic epidermal necrolysis chronic inflammatory demyelinating polyradiculoneuropathy stevens-johnson syndrome
9 diseases from the University of Copenhagen DISEASES database for HLA-DRB1:Hypersensitivity reaction type II disease Rheumatoid arthritis Diabetes mellitus Hyperthyroidism Connective tissue disease Thyroiditis Skin disease Leprosy Multiple sclerosis 10/53 Novoseek disease relationships for HLA-DRB1 gene (see all 53) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| rheumatoid arthritis |
66.3 |
64 |
1416553 (3), 16277691 (2), 16385499 (2), 10765919 (2) (see all 44) |
| genetic susceptibility |
65.2 |
8 |
17055211 (1), 17047287 (1), 17309132 (1), 18004301 (1) (see all 8) |
| polymyalgia rheumatica |
58.1 |
10 |
10225816 (2), 8147928 (2), 9458210 (2), 15305244 (2) (see all 5) |
| diabetes mellitus insulin-dependent |
50.2 |
2 |
10680451 (1), 7817375 (1) |
| autoimmune diseases |
49.3 |
5 |
16362107 (1), 19117368 (1), 16198136 (1), 1617108 (1) (see all 5) |
| vogt-koyanagi-harada disease |
46.6 |
2 |
7906684 (1), 15603876 (1) |
| autoimmunity |
44.1 |
4 |
16385499 (1), 17987563 (1), 15120192 (1), 8675578 (1) |
| hepatitis autoimmune |
44 |
3 |
1350267 (2), 9672174 (1) |
| pemphigus foliaceus |
36.9 |
1 |
9027963 (1) |
| diabetes autoimmune |
35.6 |
2 |
10333055 (1), 18279373 (1) |
Genetic Association Database (GAD): HLA-DRB1 Human Genome Epidemiology (HuGE) Navigator: HLA-DRB1 (1845 documents) Export disorders for HLA-DRB1 gene to outside databases
|
Publications for HLA-DRB1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HLA-DRB1 gene, integrated from 9 sources (see all 2487): (articles sorted by number of sources associating them with HLA-DRB1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- [Determination of HLA-DRB1 gene polymorphism in Luoba ethnic group of Tibet] (PubMed id 15898419)1, 4, 9 Kang L.L....Li S.B. (2005)
- Influence of HLA-DRB1 and TNF microsatellite polymorphisms on the expression of extraarticular manifestations in rheumatoid arthritis patients from northwest Spain. (PubMed id 11791643)1, 4, 9 Mattey D.L....Ollier W.E. (2001)
- [Possible association between HLA-HRB1 and DQB1 genes frequency and susceptibility or resistance to Helicobacter pylori infection in Kunming Yi ethnic group children] (PubMed id 15833172)1, 4, 9 Huang Y.K....Zhou L.F. (2005)
- [Association of HLA-A, B, and DR haplotypes with genotype in Chinese children with systemic lupus erythematosus] (PubMed id 14748996)1, 4, 9 Li C.F....Jiang Z.F. (2003)
- [Polymorphism of length of tetranucleotide repeat from the 5'-side from the myelin basic protein gene in multiple sclerosis in Russians] (PubMed id 14714495)1, 4, 9 Andreevskii T.V....Favorova O.O. (2003)
- HLA-DRB1 and HLA-DQB1 polymorphisms in Pacific Islands populations. (PubMed id 12144623)1, 4, 9 Velickovic Z.M....Carter J.M. (2002)
- Collagenase-1 (MMP-1) and HLA-DRB1 gene polymorphisms in rheumatoid arthritis: a prospective longitudinal study. (PubMed id 11824952)1, 4, 9 Constantin A....Cantagrel A. (2002)
- Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA-DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage-specific type II collagen in early rheumatoid arthritis. (PubMed id 16385499)1, 4, 9 Burkhardt H....Reis A. (2006)
- [Polymorphism of HLA-A,-B and DRB1 in Han population of Shanxi province] (PubMed id 16215957)1, 4, 9 Lan T....Wang G.Q. (2005)
- The impact of HLA-DRB1 genes on extra-articular disease manifestations in rheumatoid arthritis. (PubMed id 16277691)1, 4, 9 Turesson C....Matteson E.L. (2005)
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External Searches for HLA-DRB1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing HLA-DRB1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing HLA-DRB1 gene
(According to HUGE)
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Specialized Databases showing HLA-DRB1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| PharmGKB entry for HLA-DRB1 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for HLA-DRB1 gene: Search GeneIP for patents involving HLA-DRB1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for HLA-DRB1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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