HLA-DRB1 major histocompatibility complex, class II, DR beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HLA-DRB1provided by HGNC
Official Full Name: major histocompatibility complex, class II, DR beta 1provided by HGNC
Primary source: HGNC:HGNC:4948
See related: Ensembl:ENSG00000196126 MIM:142857; AllianceGenome:HGNC:4948
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SS1; DRB1; HLA-DRB; HLA-DR1B
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. 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 some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Orthologs: all
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Genomic context

Location:: 6p21.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (32578775..32589848, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (32408987..32422414, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (32546552..32557625, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigating Associations between HLA-DR Genotype, H. pylori Infection, and Anti-CagA IgA Seropositivity in a Turkish Gastritis Cohort.
Title: Investigating Associations between HLA-DR Genotype, H. pylori Infection, and Anti-CagA IgA Seropositivity in a Turkish Gastritis Cohort.
High-resolution HLA genotyping in inclusion body myositis refines 8.1 ancestral haplotype association to DRB1*03:01:01 and highlights pathogenic role of arginine-74 of DRbeta1 chain.
Title: High-resolution HLA genotyping in inclusion body myositis refines 8.1 ancestral haplotype association to DRB1*03:01:01 and highlights pathogenic role of arginine-74 of DRβ1 chain.
The rare DRB1*04:08-DQ8 haplotype is the main HLA class II genetic driver and discriminative factor of Early-onset Type 1 diabetes in the Portuguese population.
Title: The rare DRB1*04:08-DQ8 haplotype is the main HLA class II genetic driver and discriminative factor of Early-onset Type 1 diabetes in the Portuguese population.
Human leucocyte antigens and Japanese patients with polymyalgia rheumatica: the protective effect of DRB1*09:01.
Title: Human leucocyte antigens and Japanese patients with polymyalgia rheumatica: the protective effect of DRB1*09:01.
Chronic HIV-1 Tat action induces HLA-DR downregulation in B cells: A mechanism for lymphoma immune escape in people living with HIV.
Title: Chronic HIV-1 Tat action induces HLA-DR downregulation in B cells: A mechanism for lymphoma immune escape in people living with HIV.
HLA-DRB1*15:01 and the MERTK Gene Interact to Selectively Influence the Profile of MERTK-Expressing Monocytes in Both Health and MS.
Title: HLA-DRB1*15:01 and the MERTK Gene Interact to Selectively Influence the Profile of MERTK-Expressing Monocytes in Both Health and MS.
Association of HLA-DRB1 alleles with anti-D alloimmunization in RhD negative pregnant women in India.
Title: Association of HLA-DRB1 alleles with anti-D alloimmunization in RhD negative pregnant women in India.
Autoimmune Diabetes From Childhood to Adulthood: The Role of Pancreatic Autoantibodies and HLA-DRB1 Genotype.
Title: Autoimmune Diabetes From Childhood to Adulthood: The Role of Pancreatic Autoantibodies and HLA-DRB1 Genotype.
Epigenome-wide methylation haplotype association analysis identified HLA-DRB1, HLA-DRB5 and HLA-DQB1 as risk factors for rheumatoid arthritis.
Title: Epigenome-wide methylation haplotype association analysis identified HLA-DRB1, HLA-DRB5 and HLA-DQB1 as risk factors for rheumatoid arthritis.
[Association between HLA-DRB1 gene polymorphisms and genetic susceptibility of early-onset severe preeclampsia].
Title: [Association between HLA-DRB1 gene polymorphisms and genetic susceptibility of early-onset severe preeclampsia].

Submit: New GeneRIF Correction See all GeneRIFs (1283)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Multiple sclerosis, susceptibility to MedGen: C1868685 OMIM: 126200 GeneReviews: Not available	Compare labs
Sarcoidosis, susceptibility to, 1 MedGen: C2697310 OMIM: 181000 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sj&#x000c3;&#x000b6;gren's syndrome at 7q11.23. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury. EBI GWAS Catalog EBI GWAS CatalogPubMed
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at CD40 and other loci confer risk of rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies susceptibility loci for IgA nephropathy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of susceptibility loci for cervical cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers. EBI GWAS Catalog EBI GWAS CatalogPubMed
HLA-Cw1202-B5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel associations for hypothyroidism include known autoimmune risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles. EBI GWAS Catalog EBI GWAS CatalogPubMed
Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-&#x003b2; therapy in multiple sclerosis patients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. EBI GWAS Catalog EBI GWAS CatalogPubMed
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variation at HLA-DRB1 is associated with resistance to enteric fever. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Clinical trophoblast microparticle samples from HIV-1 infected patients upregulates HLA-DR (MHC-II) expression on dendritic cells upon exposure	PubMed
HIV-1 infection upregulates HLA-DR (MHC-II) and CD38 on CD4+ and CD8+ T cells in clinical, patient samples	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	CD4-mediated endocytosis of HIV-1 gp120 results in MHC-II (HLA-DR) presentation to CD4+ T cells	PubMed
	env	Inhibition of CpG-B-induced maturation of plasmacytoid dendritic cells by HIV-1 gp120 results in downregulation of CD40, CD83, CCR7, and HLA-DR expression	PubMed
	env	CD4+ T cells infected with CCR5-tropic HIV-1 have significantly higher levels of activation-marker expression (e.g. CD25, CD71 and HLA-DR) than CD4+ T lymphocytes infected with CXCR4-tropic HIV-1	PubMed
	env	Amino acid residues 42-49 in the V1 region of CD4 are involved in the interaction between HIV-1 gp120 and class II major histocompatibility complex molecules	PubMed
	env	Genetic variability in HIV-1 gp120 affects its interactions with HLA-DR molecules and T cell receptor	PubMed
	env	HIV envelope protein gp120 can specifically inhibit CD4-dependent class II MHC-restricted T cell response to Ag	PubMed
Envelope surface glycoprotein gp160, precursor	env	Antibodies against cell surface molecules LFA-1, ICAM-1, HLA-DR, and CD28 inhibit the HIV-1 gp160-induced B cell differentiation response; gp160 also induces IL-6R and CD23 molecule expression on B cells	PubMed
	env	Processing of HIV-1 gp160 to gp120 and gp41 is necessary for the association of HIV-1 envelope glycoproteins with class II MHC	PubMed
Envelope transmembrane glycoprotein gp41	env	Soluble HIV-1 gp41 enhancement effects on MHC class I and II antigen expression can be inhibited by soluble gp41-binding proteins of 45, 49 and 62 kD from human B cells	PubMed
	env	Soluble HIV-1 gp41 can selectively enhance MHC class I and II expression on human B cells, but does not increase expression of other cell surface antigens such as CD21 and CD54 (ICAM-1)	PubMed
	env	A 43-amino-acid sequence between amino acids 708 and 750 in the HIV-1 gp41(TM) cytoplasmic tail is required for efficient incorporation of HLA class II proteins into virions	PubMed
Nef	nef	HIV-1 Nef cloned from subjects with early/acute progressive HIV infection downregulates HLA-DR in 721.221 cells to a greater extent relative to HIV-1 Nef cloned from subjects with chronic progressive infection	PubMed
	nef	HIV-1 Nef impairs IL-4/GM-CSF-stimulated THP-1 differentiation towards immature DCs, which leads to the lower levels of CD11C, CD40, and HLA-DR protein expression from the cell surface	PubMed
	nef	Nef-triggered MHCII endocytosis requires Rab5 activity and lyst function, whereas lysosomal trafficking of internalized MHCII molecules requires Rab7 activity	PubMed
	nef	HIV-1 Nef-pulsed mDCs downregulate HLA-DR expression and upregulate CD25 and CCR7 expression in NK cells	PubMed
	nef	Four large regions (residues 1-36, 66-97, 117-147, and 182-205) of HIV-1 Nef bind efficiently to eight HLA-DR molecules	PubMed
	nef	Monoclonal antibodies to the cell surface molecule human lymphocyte antigen-DR inhibit the Nef-induced B-cell differentiation response, suggesting an interaction between Nef and human lymphocyte antigen-DR	PubMed
Pr55(Gag)	gag	The number of HIV-1 Gag epitopes recognized by HLA-DRB1 are significantly different between HIV-1 infected non-progressors and progressors	PubMed
	gag	Expression of CD80, CD83, CD86, and HLA-DR molecules are significantly downregulated in mature dendritic cells after transduction with ubiquitinated Gag compared to unubiquitinated Gag constructs	PubMed
	gag	Two peptides of the CA domain of HIV-1 Gag, VDRFYKTLRAEQASQ and DRFYKLTRAEQASQ, are presented on MHC II molecules of dendritic cells and have similar sensitivity for antigen-specific T cells	PubMed
	gag	Expression of MARCH-8 inhibits HLA-DR-mediated enhancement of mature Gag products internalization by downregulating cell surface HLA-DR	PubMed
	gag	The Gag late-budding domain PTAP motif and the cytosolic tails of the HLA-DR alpha and beta chains are required for HLA-DR-mediated Gag accumulation in late endosomal/multivesicular bodies (LE/MVB)	PubMed
	gag	Dynamin-dependent endocytosis is required for intracellular accumulation of HIV-1 Gag in presence of HLA-DR	PubMed
	gag	HIV-1 Gag virus-like particle-induced monocyte activation is shown by upregulation of molecules involved in antigen presentation (MHC II, CD80, CD86) and cell adhesion (CD54)	PubMed
	gag	HIV-1 Gag virus-like particles efficiently activate human monocyte-derived dendritic cells (MDDC) and induce MDDC maturation with an associated increase in the surface expression of CD80, CD86 and MHC classes I and II	PubMed
	gag	Human Leukocyte Antigen DR (HLA-DR), Major Histocompatibility Complex class II molecules (MHC-II) induce a relocation of Gag to late endosomal/multivesicular bodies (LE/MVB) and increase the accumulation of viral particles assembling intracellularly	PubMed
	gag	HIV-1 Gag expression is able to induce HLA-DR cell-surface localization in H78-C10.0 cells	PubMed
	gag	In human macrophages, HIV-1 Gag proteins co-localize with MHC II (HLA-DR), CD63, and Lamp1 in MHC II compartments	PubMed
Tat	tat	Treatment of PBMCs with HIV-1 Tat significantly enhances the generation of monocytic myeloid-derived suppressor cells expressing no or very low levels of HLA-DR	PubMed
	tat	HIV-1 Tat downregulates expression of MHC class II genes in antigen-presenting cells (APC) by inhibiting the transactivator of MHC class II genes, CIITA	PubMed
	tat	HIV-1 Tat upregulates HLA-DR expression in monocyte-derived dendritic cells and T cells, thereby driving T cell-mediated immune responses and activation	PubMed
Vif	vif	The number of HIV-1 Vif epitopes recognized by HLA-DRB1 are significantly different between HIV-1 infected non-progressors and progressors	PubMed
Vpu	vpu	HIV-1 Vpu interacts with CD74 and modulates MHC II in HIV-1-infected cells	PubMed
capsid	gag	HIV-1 CA co-localizes with HLA-DR in human monocyte-derived dendritic cells	PubMed
	gag	HIV-1 Capsid (p24) inhibits interferon gamma induced increases in HLA-DR and cytochrome B heavy chain mRNA levels in the human monocyte-like cell line THP1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93154 (e-PCR)
- UniSTS:88832

GDB:177509 (e-PCR)
- UniSTS:154904

RH69063 (e-PCR)
- UniSTS:91672

RH69092 (e-PCR)
- UniSTS:86556

RH80065 (e-PCR)
- UniSTS:88606

RH69107 (e-PCR)
- UniSTS:85025

GDB:458708 (e-PCR)
- UniSTS:157486

RH46825 (e-PCR)
- UniSTS:24120

M2_2_36 (e-PCR)
- UniSTS:239161

STS-V00522 (e-PCR)
- UniSTS:68941

RH69085 (e-PCR)
- UniSTS:42062

NoName (e-PCR)
- UniSTS:487006

STS-H52245 (e-PCR)
- UniSTS:50278

RH79846 (e-PCR)
- UniSTS:85123

RH46799 (e-PCR)
- UniSTS:54689

RH80804 (e-PCR)
- UniSTS:85967

RH76259 (e-PCR)
- UniSTS:83922

RH15772 (e-PCR)
- UniSTS:7126

SHGC-35283 (e-PCR)
- UniSTS:20708

RH69091 (e-PCR)
- UniSTS:25841

RH80800 (e-PCR)
- UniSTS:92913

RH70404 (e-PCR)
- UniSTS:86775

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CD4 receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables MHC class II protein complex binding	HDA more info	PubMed
enables MHC class II protein complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables MHC class II receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables MHC class II receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables MHC class II receptor activity	TAS Traceable Author Statement more info	PubMed
enables T cell receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables peptide antigen binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptide antigen binding	IDA Inferred from Direct Assay more info	PubMed
enables polysaccharide binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in T-helper 1 type immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class II	IDA Inferred from Direct Assay more info	PubMed
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II	IBA Inferred from Biological aspect of Ancestor more info
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II	IDA Inferred from Direct Assay more info	PubMed
involved_in cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in detection of bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in humoral immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in inflammatory response to antigenic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in macrophage differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in myeloid dendritic cell antigen processing and presentation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of inflammatory response to antigenic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptide antigen assembly with MHC class II protein complex	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptide antigen assembly with MHC class II protein complex	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of CD4-positive, alpha-beta T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of T cell mediated cytotoxicity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell mediated immune response to tumor cell	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of memory T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of monocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of viral entry into host cell	IDA Inferred from Direct Assay more info	PubMed
involved_in protein tetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of T-helper cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of interleukin-10 production	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of interleukin-4 production	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
located_in Golgi membrane	TAS Traceable Author Statement more info
part_of MHC class II protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MHC class II protein complex	IDA Inferred from Direct Assay more info	PubMed
part_of MHC class II protein complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in autolysosome membrane	IEA Inferred from Electronic Annotation more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in immunological synapse	IDA Inferred from Direct Assay more info	PubMed
located_in intermediate filament	TAS Traceable Author Statement more info	PubMed
is_active_in late endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lumenal side of endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in trans-Golgi network membrane	TAS Traceable Author Statement more info
located_in transport vesicle membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: major histocompatibility complex, class II, DR beta 1 precursor

Names: HLA class II histocompatibility antigen, DR-1 beta chain; MHC class II HLA-DR beta 1 chain; human leucocyte antigen DRB1; lymphocyte antigen DRB1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029921.1 RefSeqGene

Range

5001..18403

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001243965.1 → NP_001230894.1 major histocompatibility complex, class II, DR beta 1 precursor

See identical proteins and their annotated locations for NP_001230894.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the DRB1*03:01:01 allele of the HLA-DRB1 gene, as represented in the alternate locus groups ALT_REF_LOCI_2 and ALT_REF_LOCI_6 of the reference genome.

Source sequence(s)

BM671866, DB246210, X00699

UniProtKB/TrEMBL

A0A098GK79, A0A0A1IBA8, A0A0A8LFF3, A0A7G2CTJ8, A0A7R8NBZ3, A0A7R8NBZ9, A0A7R8NC96, A0A7R8ND07, A0A8F6GU52, A8K634, Q56FP5, Q5Y7D1

Conserved Domains (2) summary

pfam00969
Location:42 → 116

MHC_II_beta; Class II histocompatibility antigen, beta domain

cd21000
Location:123 → 218

IgC1_MHC_II_beta_HLA-DR; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain of histocompatibility antigen (HLA) DR; member of the C1-set of Ig superfamily (IgSF) domains
NM_001359193.1 → NP_001346122.1 major histocompatibility complex, class II, DR beta 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the DRB1*07:01:01 allele of the HLA-DRB1 gene, as represented in the alternate locus groups ALT_REF_LOCI_3 and ALT_REF_LOCI_4 of the reference genome.

Source sequence(s)

BC018832

UniProtKB/TrEMBL

A0A7S4PRB8, A0A7S4U9P6, D7RIG5, Q5XKU0

Conserved Domains (2) summary

pfam00969
Location:44 → 116

MHC_II_beta; Class II histocompatibility antigen, beta domain

cd21000
Location:123 → 218

IgC1_MHC_II_beta_HLA-DR; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain of histocompatibility antigen (HLA) DR; member of the C1-set of Ig superfamily (IgSF) domains
NM_001359194.1 → NP_001346123.1 major histocompatibility complex, class II, DR beta 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) represents the DRB1*04:03:01 allele of the HLA-DRB1 gene, as represented in the alternate locus group ALT_REF_LOCI_7 of the reference genome.

Source sequence(s)

BX296568

UniProtKB/TrEMBL

A0A455R0R3, A0A7S4V2F4, A2BFX2, Q56FN8, Q70Q10, X5CF47

Conserved Domains (2) summary

pfam00969
Location:43 → 116

MHC_II_beta; Class II histocompatibility antigen, beta domain

cd21000
Location:123 → 218

IgC1_MHC_II_beta_HLA-DR; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain of histocompatibility antigen (HLA) DR; member of the C1-set of Ig superfamily (IgSF) domains
NM_002124.4 → NP_002115.2 major histocompatibility complex, class II, DR beta 1 precursor

See identical proteins and their annotated locations for NP_002115.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the DRB1*15:01:01 allele of the HLA-DRB1 gene, as represented in the assembled chromosome 6 in the primary assembly of the reference genome and the CHM1_1.1 genome.

Source sequence(s)

AK291987, AL713966, BC033827

Consensus CDS

CCDS47409.1

UniProtKB/Swiss-Prot

A0MWF2, A0N0W1, A2ICT1, A2TGX3, A4F5N0, A4ZXA5, A4ZXA6, A4ZY86, A5H000, A5HKN8, A7DZP9, A7LA26, A7UHG2, A7X5B1, A7X5B7, A7X5E0, A7X5E6, A7X5H8, A7X5J4, A7X5K7, A8K098, A8YQE9, A9JPG0, B0BK85, B0LUZ6, B0UYW1, B1GWE7, B2CR03, B2LVF9, B2NJ29, B2ZCY1, B3VTP8, B3VTQ3, B5A8Y2, B5A8Y3, B5B8U0, B5B9V5, B5B9V6, B5LZ25, B5QSK8, B6VCX2, B6VEL9, B7UDB2, B9VRA4, B9X248, C0LAB5, O02876, O02930, O19585, O19717, O19718, O19739, O19788, O46699, O46793, O46872, O62869, O62889, O77969, O78047, O78210, O98212, P01911, P01912, P01914, P04229, P13758, P13759, P13760, P13761, P20039, P79545, Q06662, Q0PGR5, Q0PQ39, Q14280, Q14QT2, Q155F7, Q19AF2, Q19K86, Q1AP33, Q1G0Z9, Q1JRP3, Q1KLJ6, Q27PR6, Q27PR7, Q29673, Q29720, Q29722, Q29734, Q29770, Q29771, Q29772, Q29790, Q29792, Q29800, Q29806, Q29833, Q29874, Q29875, Q29886, Q29968, Q29974, Q29975, Q2A120, Q2HZE5, Q2L9H4, Q2LE76, Q2MF40, Q2MJA6, Q2MZ92, Q2VQU1, Q2YHQ2, Q30006, Q30108, Q30112, Q30115, Q30116, Q30117, Q30120, Q30134, Q30142, Q30145, Q30149, Q30159, Q30166, Q30167, Q30200, Q307W5, Q31636, Q32MY7, Q3HUP9, Q3KTM1, Q3LA84, Q3LA87, Q3LA88, Q3LA89, Q3LA90, Q3LA91, Q3LA92, Q3LA93, Q3LA94, Q3LA95, Q3LA96, Q3LA97, Q3LA98, Q3LA99, Q3LAA0, Q3LAA1, Q3LAA2, Q3MQ60, Q3T919, Q4PRC3, Q4PRC5, Q4VZY7, Q53IG1, Q56FN9, Q56FP1, Q56FP2, Q56FP3, Q58F52, Q5BM92, Q5EER6, Q5K3W2, Q5NDB9, Q5U9W6, Q5UBA2, Q5UT58, Q5W3L4, Q5Y7A7, Q5Y7B0, Q5Y7B9, Q5Y7E9, Q5Y7G0, Q683P7, Q6REE2, Q6T865, Q6U387, Q701T1, Q70GL2, Q70Q85, Q768U2, Q768U4, Q7M2H4, Q7YNY9, Q7YP03, Q7YP04, Q7YQ26, Q7YQA3, Q7YQA5, Q860D8, Q860D9, Q860E5, Q860H8, Q860S0, Q860Z3, Q861G6, Q861H0, Q861H4, Q861H5, Q861H7, Q861H8, Q8HWQ6, Q8MH59, Q8MH60, Q8WLU3, Q8WMA0, Q95348, Q95383, Q95389, Q95461, Q95HK1, Q95HL0, Q95HL1, Q95IE3, Q95IG2, Q95IT6, Q96HZ9, Q9BCL7, Q9BCP0, Q9BCP1, Q9BCP2, Q9BCP5, Q9BD21, Q9BD33, Q9BD40, Q9GIK5, Q9GIL5, Q9GIL6, Q9GIP3, Q9GIX8, Q9GIX9, Q9GIY0, Q9GIY1, Q9GIY2, Q9GIY3, Q9GIY4, Q9GJ25, Q9GJ56, Q9GJ57, Q9GJ58, Q9GJ60, Q9GJF8, Q9GJF9, Q9GJG0, Q9MXZ0, Q9MXZ5, Q9MY13, Q9MY45, Q9MY56, Q9MYF5, Q9TPB6, Q9TPW1, Q9TPW3, Q9TPW9, Q9TPX4, Q9TQ37, Q9TQ91, Q9TQE0, Q9UBY1, Q9UIM9, Q9UIN0, Q9XRX1, Q9XRY4, Q9XRY5, Q9Y453, Q9Y4H7

UniProtKB/TrEMBL

A0A0A8LDX0, A0A224MKH6, A0A455QYV7, A0A6C0NSJ1, A0A6V7B690, A0A6V7B8E1, D7RIH8, G0YWD3, S6B225, X5DNQ0

Related

ENSP00000353099.5, ENST00000360004.6

Conserved Domains (2) summary

pfam00969
Location:43 → 116

MHC_II_beta; Class II histocompatibility antigen, beta domain

cd21000
Location:123 → 218

IgC1_MHC_II_beta_HLA-DR; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain of histocompatibility antigen (HLA) DR; member of the C1-set of Ig superfamily (IgSF) domains

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

32578775..32589848 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

Range

3998045..4011447 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

Range

3814543..3830112 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

Range

3988951..4004510 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

Range

3779010..3792428 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047443024.1 → XP_047298980.1 major histocompatibility complex, class II, DR beta 1 precursor isoform X2

UniProtKB/TrEMBL

Q5Y7D1
XM_024452553.2 → XP_024308321.1 major histocompatibility complex, class II, DR beta 1 precursor isoform X1

UniProtKB/TrEMBL

A0A098GK79, A0A0A1IBA8, A0A0A8LFF3, A0A7G2CTJ8, A0A7R8NBZ3, A0A7R8NBZ9, A0A7R8NC96, A0A7R8ND07, A0A8F6GU52, A8K634, Q56FP5

Conserved Domains (2) summary

pfam00969
Location:55 → 129

MHC_II_beta; Class II histocompatibility antigen, beta domain

cl11960
Location:139 → 232

Ig; Immunoglobulin domain