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Aliases for HLA-DRB1 Gene

Aliases for HLA-DRB1 Gene

  • Major Histocompatibility Complex, Class II, DR Beta 1 2 3 3 5
  • HLA Class II Histocompatibility Antigen, DR-1 Beta Chain 3
  • MHC Class II HLA-DR Beta 1 Chain 3
  • Human Leucocyte Antigen DRB1 3
  • MHC Class II Antigen DRB1*10 4
  • MHC Class II Antigen DRB1*11 4
  • MHC Class II Antigen DRB1*12 4
  • MHC Class II Antigen DRB1*13 4
  • MHC Class II Antigen DRB1*14 4
  • MHC Class II Antigen DRB1*15 4
  • MHC Class II Antigen DRB1*16 4
  • MHC Class II Antigen DRB1*1 4
  • MHC Class II Antigen DRB1*3 4
  • MHC Class II Antigen DRB1*4 4
  • MHC Class II Antigen DRB1*7 4
  • MHC Class II Antigen DRB1*8 4
  • MHC Class II Antigen DRB1*9 4
  • Lymphocyte Antigen DRB1 3
  • Clone P2-Beta-3 4
  • DW2.2/DR2.2 4
  • HLA-DR1B 3
  • HLA-DRB2 4
  • HLA-DRB 3
  • DR-12 4
  • DR-13 4
  • DR-14 4
  • DR-16 4
  • DRw10 4
  • DRw11 4
  • DRB1 3
  • DR-1 4
  • DR-4 4
  • DR-5 4
  • DR-7 4
  • DR-8 4
  • DR-9 4
  • DR12 4
  • DR13 4
  • DR14 4
  • DR16 4
  • DRw8 4
  • SS1 3
  • DR1 4
  • DR4 4
  • DR5 4
  • DR7 4
  • DR8 4
  • DR9 4

External Ids for HLA-DRB1 Gene

Previous HGNC Symbols for HLA-DRB1 Gene

  • HLA-DR1B

Previous GeneCards Identifiers for HLA-DRB1 Gene

  • GC06U990049
  • GC06Md32547
  • GC06M032317
  • GC06Md32654
  • GC06M032656
  • GC06M032546
  • GC06M032552

Summaries for HLA-DRB1 Gene

Entrez Gene Summary for HLA-DRB1 Gene

  • 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 by presenting 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 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are 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]

GeneCards Summary for HLA-DRB1 Gene

HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1) is a Protein Coding gene. Diseases associated with HLA-DRB1 include Sarcoidosis 1 and Multiple Sclerosis. Among its related pathways are Rheumatoid arthritis and GPCR Pathway. Gene Ontology (GO) annotations related to this gene include peptide antigen binding and MHC class II receptor activity. An important paralog of this gene is HLA-DRB5.

  • Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading.

  • (Microbial infection) Acts as a receptor for Epstein-Barr virus on lymphocytes.

  • Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.

Gene Wiki entry for HLA-DRB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-DRB1 Gene

Genomics for HLA-DRB1 Gene

GeneHancer (GH) Regulatory Elements for HLA-DRB1 Gene

Promoters and enhancers for HLA-DRB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J032587 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 744.3 +0.7 697 3.4 PKNOX1 SMAD1 IRF3 BACH1 KLF5 RFX5 RELA RFXANK POLR2A ZNF138 HLA-DRB1 HLA-DQA2 HLA-DRB5 HLA-DRB6 C4A HLA-DQB2 HLA-DMA HLA-DQA1 STK19B HLA-DQB1
GH06J032602 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 104.9 -17.3 -17325 10.3 HDGF PKNOX1 ATF1 SMAD1 YY1 ZNF143 FOS ATF7 RUNX3 NFYC HLA-DRB1 HLA-DRB5 HLA-DQA1 HLA-DQA2 HLA-DRB6 C4A HLA-DQB2 HLA-DOB HLA-DQB1 HLA-DMA
GH06J032633 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 72.8 -47.2 -47156 7.2 HDGF SMAD1 FEZF1 GLI4 ZNF2 ZNF121 GLIS2 ZNF416 ZNF143 ATF7 GC06P032637 GC06P032638 HLA-DQA1 HLA-DQB1 HLA-DQA2 HLA-DRB1 HLA-DQB2 HLA-DRB5 PPT2 HLA-DRB6
GH06J032621 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 86.8 -35.4 -35374 8.3 PKNOX1 SMAD1 FEZF1 ZNF2 IRF4 ZNF207 ZNF143 ATF7 RUNX3 JUNB HLA-DRB1 HLA-DQA2 HLA-DRB6 HLA-DQB1 HLA-DRB5 HLA-DQB2 HLA-DQA1 CYP21A1P BRD2 HLA-DQB1-AS1
GH06J032435 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 52.4 +150.4 150410 7.5 HDGF PKNOX1 ATF1 SMAD1 RB1 STAT5A BMI1 BATF KLF5 IRF4 HLA-DRA HLA-DRB1 HLA-DQB1 HLA-DRB5 HLA-DQA2 HLA-DRB6 C4A HLA-DQA1 HLA-DQB1-AS1 PSMB8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HLA-DRB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HLA-DRB1 gene promoter:
  • CUTL1
  • p53
  • AML1a
  • HOXA3
  • YY1
  • CBF-C
  • CBF-B
  • CBF-A
  • CBF(2)
  • CP1A

Genomic Locations for HLA-DRB1 Gene

Genomic Locations for HLA-DRB1 Gene
chr6:32,578,769-32,589,848
(GRCh38/hg38)
Size:
11,080 bases
Orientation:
Minus strand
chr6:32,546,546-32,557,625
(GRCh37/hg19)
Size:
11,080 bases
Orientation:
Minus strand

Genomic View for HLA-DRB1 Gene

Genes around HLA-DRB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-DRB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-DRB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HLA-DRB1 Gene

Proteins for HLA-DRB1 Gene

  • Protein details for HLA-DRB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01911-2B1F_HUMAN
    Recommended name:
    HLA class II histocompatibility antigen, DRB1-15 beta chain
    Protein Accession:
    P01911
    Secondary Accessions:
    • Q29790
    • Q29975
    • Q30142
    • Q30166
    • Q32MY7
    • Q56FN9
    • Q5Y7B0
    • Q5Y7B9

    Protein attributes for HLA-DRB1 Gene

    Size:
    266 amino acids
    Molecular mass:
    29966 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding of antigenic peptides.
    Miscellaneous:
    • The chain shown constituted about 70% of a pool of at least seven similar beta chains.

    Three dimensional structures from OCA and Proteopedia for HLA-DRB1 Gene

neXtProt entry for HLA-DRB1 Gene

Post-translational modifications for HLA-DRB1 Gene

Other Protein References for HLA-DRB1 Gene

Antibody Products

No data available for DME Specific Peptides for HLA-DRB1 Gene

Domains & Families for HLA-DRB1 Gene

Gene Families for HLA-DRB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

P04229

UniProtKB/Swiss-Prot:

2B1D_HUMAN :
  • Belongs to the MHC class II family.
Family:
  • Belongs to the MHC class II family.
genes like me logo Genes that share domains with HLA-DRB1: view

Function for HLA-DRB1 Gene

Molecular function for HLA-DRB1 Gene

UniProtKB/Swiss-Prot Function:
Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route; where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules; and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments; exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides; autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs; other cells of the gastrointestinal tract; such as epithelial cells; express MHC class II molecules and CD74 and act as APCs; which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen; three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs; CD74 undergoes a sequential degradation by various proteases; including CTSS and CTSL; leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells; the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules; increased acidification produces increased proteolysis and efficient peptide loading.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for Epstein-Barr virus on lymphocytes.
UniProtKB/Swiss-Prot Function:
Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.
GENATLAS Biochemistry:
HLA-DR,beta 1 chain,determining DR1,3,4,5 etc

Phenotypes From GWAS Catalog for HLA-DRB1 Gene

Gene Ontology (GO) - Molecular Function for HLA-DRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0005515 protein binding IPI --
GO:0023026 MHC class II protein complex binding HDA 20458337
GO:0032395 MHC class II receptor activity NAS --
GO:0042605 peptide antigen binding IDA 21502329
genes like me logo Genes that share ontologies with HLA-DRB1: view
genes like me logo Genes that share phenotypes with HLA-DRB1: view

Human Phenotype Ontology for HLA-DRB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HLA-DRB1 Gene

Localization for HLA-DRB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-DRB1 Gene

Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HLA-DRB1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
endosome 5
endoplasmic reticulum 4
golgi apparatus 4
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HLA-DRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with HLA-DRB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HLA-DRB1 Gene

Pathways & Interactions for HLA-DRB1 Gene

genes like me logo Genes that share pathways with HLA-DRB1: view

Interacting Proteins for HLA-DRB1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000353099%0d%0a9606.ENSP00000364114%0d%0a9606.ENSP00000378786%0d%0a9606.ENSP00000390020%0d%0a9606.ENSP00000310127%0d%0a9606.ENSP00000397073%0d%0a

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
HLA-DRA

Gene Ontology (GO) - Biological Process for HLA-DRB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
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 IEA --
genes like me logo Genes that share ontologies with HLA-DRB1: view

No data available for SIGNOR curated interactions for HLA-DRB1 Gene

Drugs & Compounds for HLA-DRB1 Gene

(26) Drugs for HLA-DRB1 Gene - From: DrugBank, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glatiramer Acetate Approved, Investigational Pharma Target, binder 101
Allopurinol Approved Pharma 154
atorvastatin Approved Pharma Competitive, Inhibitor 0
Azathioprine Approved Pharma 190
Carbamazepine Approved, Investigational Pharma Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 134

(9) Additional Compounds for HLA-DRB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HLA-DRB1: view

Transcripts for HLA-DRB1 Gene

mRNA/cDNA for HLA-DRB1 Gene

Unigene Clusters for HLA-DRB1 Gene

Major histocompatibility complex, class II, DR beta 1:
Representative Sequences:

Clone Products