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Aliases for HLA-DRB3 Gene

Aliases for HLA-DRB3 Gene

  • Major Histocompatibility Complex, Class II, DR Beta 3 2 3
  • MHC Class II Antigen DRB3 3 4
  • HLA Class II Histocompatibility Antigen, DR Beta 3 Chain 3
  • MHC Class II Antigen DR Beta 3 Chain 3
  • MHC Class II HLA-DR Beta 3 Chain 3
  • Human Leucocyte Antigen DRB3 3
  • HLA-DR1B 3
  • HLA DRB3 3
  • HLA-DR3B 3

External Ids for HLA-DRB3 Gene

Previous HGNC Symbols for HLA-DRB3 Gene

  • HLA-DR3B

Previous GeneCards Identifiers for HLA-DRB3 Gene

  • GC06M032491
  • GC06M032483
  • GC06M032534
  • GC06M032079
  • GC06Mr32571
  • GC06Mf32560
  • GC06Mc32559
  • GC06Mi32479
  • GC06Mj32451
  • GC06M8T3720

Summaries for HLA-DRB3 Gene

Entrez Gene Summary for HLA-DRB3 Gene

  • HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, 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 and its gene contains 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. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB3 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]

GeneCards Summary for HLA-DRB3 Gene

HLA-DRB3 (Major Histocompatibility Complex, Class II, DR Beta 3) is a Protein Coding gene. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and CTLA4 Signaling. GO annotations related to this gene include peptide antigen binding and MHC class II receptor activity.

UniProtKB/Swiss-Prot for HLA-DRB3 Gene

  • 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-DRB3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-DRB3 Gene

Genomics for HLA-DRB3 Gene

Regulatory Elements for HLA-DRB3 Gene

Enhancers for HLA-DRB3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G003834 1.5 Ensembl ENCODE dbSUPER 0.7 +1.8 1834 2.6 FOXA2 ATF1 MLX ARID4B ZNF48 YY1 SLC30A9 SP5 MXD4 MIER2 LOC107987516 HLA-DRB3
GH06G003840 1.5 Ensembl ENCODE dbSUPER 0.4 -5.3 -5255 4.1 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 FOS SP5 LOC107987516 ENSG00000272277 FAM50B HLA-DRB3
GH06G003847 1.4 Ensembl ENCODE dbSUPER 0.4 -11.1 -11106 2.8 ARNT SIN3A BRCA1 ZNF48 YY1 ETS1 ELK1 ZNF143 DEK REST LOC107987516 ENSG00000272277 FAM50B HLA-DRB3
GH06G003831 0.5 Ensembl dbSUPER 0.4 +5.4 5375 0.8 LOC107987516 HLA-DRB3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HLA-DRB3 on UCSC Golden Path with GeneCards custom track

Genomic Location for HLA-DRB3 Gene

Chromosome:
6
Start:
3,824,511 bp from pter
End:
3,837,575 bp from pter
Size:
13,065 bases
Orientation:
Minus strand

Genomic View for HLA-DRB3 Gene

Genes around HLA-DRB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for HLA-DRB3 Gene

Proteins for HLA-DRB3 Gene

  • Protein details for HLA-DRB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P79483-DRB3_HUMAN
    Recommended name:
    HLA class II histocompatibility antigen, DR beta 3 chain
    Protein Accession:
    P79483
    Secondary Accessions:
    • A0ZXY9
    • A7MA46
    • B5AU12
    • B5AU13
    • B5AU14
    • B8YAC6
    • C6H115
    • C6H116
    • O02875
    • O19590
    • O46701
    • O46794
    • O78049
    • O78162
    • P01913
    • P79663
    • Q29721
    • Q29809
    • Q2PPD0
    • Q30144
    • Q507L8
    • Q5SP44
    • Q5STE0
    • Q6YJU6
    • Q70M87
    • Q7YQ62
    • Q860I9
    • Q8SP69
    • Q8WLT7
    • Q8WLT8
    • Q95359
    • Q95HM8
    • Q95IE5
    • Q96H16
    • Q9BCP3
    • Q9BD18
    • Q9MYA4
    • Q9MYH3
    • Q9MYH4
    • Q9TP01
    • Q9TP02
    • Q9TPB5
    • Q9TQ21
    • Q9UIN3
    • Q9UIN5

    Protein attributes for HLA-DRB3 Gene

    Size:
    266 amino acids
    Molecular mass:
    29962 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.

    Three dimensional structures from OCA and Proteopedia for HLA-DRB3 Gene

neXtProt entry for HLA-DRB3 Gene

Post-translational modifications for HLA-DRB3 Gene

  • Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II.
  • Ubiquitination at posLast=254254
  • Glycosylation at posLast=4848
  • Modification sites at PhosphoSitePlus

Other Protein References for HLA-DRB3 Gene

REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for HLA-DRB3

No data available for DME Specific Peptides for HLA-DRB3 Gene

Domains & Families for HLA-DRB3 Gene

Graphical View of Domain Structure for InterPro Entry

P79483

UniProtKB/Swiss-Prot:

DRB3_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-DRB3: view

Function for HLA-DRB3 Gene

Molecular function for HLA-DRB3 Gene

GENATLAS Biochemistry:
HLA-DR,beta 3 chain,determining DRW52;W24,25,26
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.

Gene Ontology (GO) - Molecular Function for HLA-DRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032395 MHC class II receptor activity NAS 6414998
GO:0042605 peptide antigen binding ISS 20356827
genes like me logo Genes that share ontologies with HLA-DRB3: view
genes like me logo Genes that share phenotypes with HLA-DRB3: view

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HLA-DRB3 Gene

Localization for HLA-DRB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-DRB3 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.

Gene Ontology (GO) - Cellular Components for HLA-DRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005765 lysosomal membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 6414998
GO:0012507 ER to Golgi transport vesicle membrane TAS --
genes like me logo Genes that share ontologies with HLA-DRB3: view

No data available for Subcellular locations from COMPARTMENTS for HLA-DRB3 Gene

Pathways & Interactions for HLA-DRB3 Gene

genes like me logo Genes that share pathways with HLA-DRB3: view

Interacting Proteins for HLA-DRB3 Gene

Selected Interacting proteins: P79483-DRB3_HUMAN for HLA-DRB3 Gene via IID

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
ANXA11

Gene Ontology (GO) - Biological Process for HLA-DRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 8775462
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0031295 T cell costimulation TAS --
GO:0050852 T cell receptor signaling pathway TAS --
GO:0060333 interferon-gamma-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with HLA-DRB3: view

No data available for SIGNOR curated interactions for HLA-DRB3 Gene

Drugs & Compounds for HLA-DRB3 Gene

(2) Drugs for HLA-DRB3 Gene - From: PharmGKB and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clozapine Approved Pharma Antagonist Antipsychotic medication 117
1D09C3 Investigational Pharma 0
genes like me logo Genes that share compounds with HLA-DRB3: view

Transcripts for HLA-DRB3 Gene

mRNA/cDNA for HLA-DRB3 Gene

(1) REFSEQ mRNAs :

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-DRB3 Gene

No ASD Table

Relevant External Links for HLA-DRB3 Gene

GeneLoc Exon Structure for
HLA-DRB3
ECgene alternative splicing isoforms for
HLA-DRB3

Expression for HLA-DRB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HLA-DRB3 Gene

Protein differential expression in normal tissues from HIPED for HLA-DRB3 Gene

This gene is overexpressed in Skin (32.8), Lung (6.5), and Lymph node (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HLA-DRB3 Gene



genes like me logo Genes that share expression patterns with HLA-DRB3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HLA-DRB3 Gene

Orthologs for HLA-DRB3 Gene

No data available for Orthologs and Evolution for HLA-DRB3 Gene

Paralogs for HLA-DRB3 Gene

genes like me logo Genes that share paralogs with HLA-DRB3: view

No data available for Paralogs for HLA-DRB3 Gene

Variants for HLA-DRB3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HLA-DRB3 Gene

DRB3_HUMAN-P79483
The following alleles of DRB3 are known: DRB3*01:01, DRB3*01:02, DRB3*01:03, DRB3*01:04, DRB3*01:05, DRB3*01:06, DRB3*01:07, DRB3*01:08, DRB3*01:09, DRB3*01:10, DRB3*01:11, DRB3*01:12, DRB3*01:13, DRB3*01:14, DRB3*02:01, DRB3*02:02, DRB3*02:03, DRB3*02:04, DRB3*02:05, DRB3*02:06, DRB3*02:07, DRB3*02:08, DRB3*02:09, DRB3*02:10, DRB3*02:11, DRB3*02:12, DRB3*02:13, DRB3*02:14, DRB3*02:15, DRB3*02:16, DRB3*02:17, DRB3*02:18, DRB3*02:19, DRB3*02:20, DRB3*02:21, DRB3*02:22, DRB3*02:23, DRB3*02:24, DRB3*02:25, DRB3*03:01, DRB3*03:02 and DRB3*03:03. The sequence shown is that of DRB3*01:01. Allele DRB3*01:01 belongs to an ancestral haplotype and is associated with autoimmune diseases that are linked to antigen presentation. It is found in more than 95% of the homozygous HPA-1B mothers that produce anti-HPA-1A antibodies, this leads to neonatal alloimmune thrombocytopenia (NAIT).

Sequence variations from dbSNP and Humsavar for HLA-DRB3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs200591586 Benign 32,518,080(+) GCCCT(A/G)GGAAA intron-variant
rs201699945 Benign 32,518,079(+) TGCCC(C/T)GGGAA splice-acceptor-variant
rs1000878606 -- 32,522,494(+) CTCCT(C/T)CTGGG intron-variant
rs1001168152 -- 32,523,792(+) TGGGT(A/G)CTGAG intron-variant
rs1001724928 -- 32,517,653(+) CTCTT(A/G)TGGAA utr-variant-3-prime

Relevant External Links for HLA-DRB3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLA-DRB3

No data available for Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for HLA-DRB3 Gene

Disorders for HLA-DRB3 Gene

Relevant External Links for HLA-DRB3

Genetic Association Database (GAD)
HLA-DRB3
Human Genome Epidemiology (HuGE) Navigator
HLA-DRB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HLA-DRB3

No disorders were found for HLA-DRB3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HLA-DRB3 Gene

Publications for HLA-DRB3 Gene

  1. HLA-DRB4 as a genetic risk factor for Churg-Strauss syndrome. (PMID: 17763415) Vaglio A. … Neri T.M. (Arthritis Rheum. 2007) 3 22 46 64
  2. Human leukocyte antigen association in idiopathic thrombotic thrombocytopenic purpura: evidence for an immunogenetic link. (PMID: 19922436) Scully M. … Machin S. (J. Thromb. Haemost. 2010) 3 46 64
  3. Human platelet antigen allele frequencies in different Algerian populations. (PMID: 20149160) Brouk H. … Kaplan C. (Tissue Antigens 2010) 3 46 64
  4. The impact of anti-HY responses on outcome in current and subsequent pregnancies of patients with recurrent pregnancy losses. (PMID: 20307907) Christiansen O.B. … Nielsen H.S. (J. Reprod. Immunol. 2010) 3 46 64
  5. Frequency and impact of obstetric complications prior and subsequent to unexplained secondary recurrent miscarriage. (PMID: 20395221) Nielsen H.S. … Christiansen O.B. (Hum. Reprod. 2010) 3 46 64

Products for HLA-DRB3 Gene

Sources for HLA-DRB3 Gene

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