Homo sapiens Gene: HLA-DRB1
Summary
InnateDB Gene IDBG-80863.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HLA-DRB1
Gene Name major histocompatibility complex, class II, DR beta 1
Synonyms DRB1; DRw10; HLA-DR1B; HLA-DRB; SS1
Species Homo sapiens
Ensembl Gene ENSG00000196126
Encoded Proteins
major histocompatibility complex, class II, DR beta 1
major histocompatibility complex, class II, DR beta 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:32552990-32589848
Strand Reverse strand
Band p21.32
Transcripts
ENST00000360004 ENSP00000353099
ENST00000611060 ENSP00000480667
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 23 [view]
Protein-Protein 23 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0023026 MHC class II protein complex binding
GO:0032395 MHC class II receptor activity
GO:0042605 peptide antigen binding
Biological Process
GO:0002381 immunoglobulin production involved in immunoglobulin mediated immune response
GO:0002437 inflammatory response to antigenic stimulus
GO:0002455 humoral immune response mediated by circulating immunoglobulin
GO:0002506 polysaccharide assembly with MHC class II protein complex
GO:0006955 immune response
GO:0016045 detection of bacterium
GO:0019221 cytokine-mediated signaling pathway
GO:0019882 antigen processing and presentation
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0031295 T cell costimulation
GO:0032673 regulation of interleukin-4 production
GO:0032689 negative regulation of interferon-gamma production
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0042088 T-helper 1 type immune response
GO:0042130 negative regulation of T cell proliferation
GO:0050852 T cell receptor signaling pathway
GO:0051262 protein tetramerization
GO:0060333 interferon-gamma-mediated signaling pathway
GO:2001179 regulation of interleukin-10 secretion
Cellular Component
GO:0000139 Golgi membrane
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0030658 transport vesicle membrane
GO:0030666 endocytic vesicle membrane
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0031902 late endosome membrane
GO:0032588 trans-Golgi network membrane
GO:0042613 MHC class II protein complex
GO:0070062 extracellular vesicular exosome
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
MHC class II antigen presentation pathway
Downstream TCR signaling pathway
Generation of second messenger molecules pathway
Translocation of ZAP-70 to Immunological synapse pathway
Phosphorylation of CD3 and TCR zeta chains pathway
Interferon gamma signaling pathway
PD-1 signaling pathway
Costimulation by the CD28 family pathway
TCR signaling pathway
Cytokine Signaling in Immune system pathway
Interferon Signaling pathway
Adaptive Immune System pathway
Immune System pathway
KEGG
Hematopoietic cell lineage pathway
Cell adhesion molecules (CAMs) pathway
Antigen processing and presentation pathway
Type I diabetes mellitus pathway
Allograft rejection pathway
Autoimmune thyroid disease pathway
Systemic lupus erythematosus pathway
Graft-versus-host disease pathway
Asthma pathway
Intestinal immune network for IgA production pathway
Viral myocarditis pathway
Leishmaniasis pathway
Staphylococcus aureus infection pathway
Toxoplasmosis pathway
Phagosome pathway
INOH
CD4 T cell receptor signaling pathway
PID NCI
CXCR4-mediated signaling events
TCR signaling in naïve CD4+ T cells
IL12-mediated signaling events
IL12 signaling mediated by STAT4
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_002124
HUGO
OMIM
CCDS CCDS47409
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas