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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, DRB1-7 Beta Chain 3
  • 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-DR3B 3
  • HLA-DR52 6
  • DR7 3

External Ids for HLA-DRB3 Gene

Previous Symbols for HLA-DRB3 Gene

  • HLA-DR3B

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. Diseases associated with HLA-DRB3 include pityriasis rosea and hiv-1. Among its related pathways are Class I MHC mediated antigen processing and presentation and GPCR Pathway. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-DRB3 Gene

Genomics for HLA-DRB3 Gene

Genomic Location for HLA-DRB3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:

RefSeq DNA sequence for HLA-DRB3 Gene

No data available for Regulatory Elements 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

Proteomics data for HLA-DRB3 Gene at MOPED

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 Lys254
  • Glycosylation at Asn48

Other Protein References for HLA-DRB3 Gene

Reactome Protein details:
REFSEQ proteins:

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

Domains for HLA-DRB3 Gene

Gene Families for HLA-DRB3 Gene

HGNC:
  • C1SET :Immunoglobulin superfamily / C1-set domain containing
  • HLA :Histocompatibility complex

UniProtKB/Swiss-Prot:

DRB3_HUMAN
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.:
    • P79483
Family:
  • Belongs to the MHC class II family.:
    • P79483
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:0005515 protein binding IPI 15795121
GO:0032395 MHC class II receptor activity TAS 11144299
GO:0042605 peptide antigen binding ISS 20356827
genes like me logo Genes that share ontologies with HLA-DRB3: view

Phenotypes for HLA-DRB3 Gene

GenomeRNAi human phenotypes for HLA-DRB3:
genes like me logo Genes that share phenotypes with HLA-DRB3: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HLA-DRB3 Gene COMPARTMENTS Subcellular localization image for HLA-DRB3 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
lysosome 5
plasma membrane 5
vacuole 5
golgi apparatus 4
extracellular 3
mitochondrion 1

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:0009897 external side of plasma membrane IDA 20543955
genes like me logo Genes that share ontologies with HLA-DRB3: view

Pathways 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 I2D

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0002381 immunoglobulin production involved in immunoglobulin mediated immune response IDA 17050030
GO:0002437 inflammatory response to antigenic stimulus IDA 15795121
GO:0002455 humoral immune response mediated by circulating immunoglobulin IDA 17050030
GO:0006955 immune response TAS 10609818
GO:0007165 signal transduction NAS 8775462
genes like me logo Genes that share ontologies 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 for HLA-DRB3 Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for HLA-DRB3 Gene

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

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

P79483-DRB3_HUMAN
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 MAF
rs2157337 -- 32,533,367(-) GTAGC(A/G)TGTGA upstream-variant-2KB
rs7772597 -- 32,533,454(+) atttt(A/T)cttta upstream-variant-2KB
rs11965262 -- 32,533,156(+) TAAGA(C/T)GACTT upstream-variant-2KB
rs11967891 -- 32,533,180(+) ATTTT(A/T)GAATG upstream-variant-2KB
rs11970219 -- 32,533,148(+) GGAAG(A/C)TATAA upstream-variant-2KB

Relevant External Links for HLA-DRB3 Gene

HapMap Linkage Disequilibrium report
HLA-DRB3
Locus Specific Mutation Databases (LSDB)
HLA-DRB3

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

Disorders for HLA-DRB3 Gene

(2) MalaCards Diseases for HLA-DRB3 Gene

Search for HLA-DRB3 Gene in MalaCards »

(1) Novoseek inferred disease relationships for HLA-DRB3 Gene

Disease -log(P) Hits PubMed IDs
graves disease 57.6 4

Relevant External Links for HLA-DRB3

Genetic Association Database (GAD)
HLA-DRB3
Human Genome Epidemiology (HuGE) Navigator
HLA-DRB3
genes like me logo Genes that share disorders with HLA-DRB3: view

No data available for UniProtKB/Swiss-Prot 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 23 49
  2. HLA-DR beta-chain polymorphism. Second domain polymorphism reflects evolutionary relatedness of alleles and may explain public serologic epitopes. (PMID: 2471740) Gorski J. (J. Immunol. 1989) 3 4
  3. Molecular analysis of the genes for human class II antigens of the major histocompatibility complex. (PMID: 6414998) Long E.O. … Mach B. (Hum. Immunol. 1983) 3 4
  4. HLA-DR beta chain residue 86 controls DR alpha beta dimer stability. (PMID: 8500529) Verreck F.A. … Koning F. (Eur. J. Immunol. 1993) 3 23
  5. Polymorphism of human Ia antigens: gene conversion between two DR beta loci results in a new HLA-D/DR specificity. (PMID: 3459965) Gorski J. … Mach B. (Nature 1986) 3 4

Products for HLA-DRB3 Gene

Sources for HLA-DRB3 Gene

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