Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HLA-DRB1 (major histocompatibility complex, class II, DR beta 1)

Identity

Other namesDRB1
DRw10
HLA-DR1B
HLA-DRB
SS1
HGNC (Hugo) HLA-DRB1
LocusID (NCBI) 3123
Location 6p21.32
Location_base_pair Starts at 32546547 and ends at 32557613 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)HLA-DRB1   4948
Cards
Entrez_Gene (NCBI)HLA-DRB1  3123  major histocompatibility complex, class II, DR beta 1
GeneCards (Weizmann)HLA-DRB1
Ensembl hg19 (Hinxton)ENSG00000196126 [Gene_View]  chr6:32546547-32557613 [Contig_View]  HLA-DRB1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000196126 [Gene_View]  chr6:32546547-32557613 [Contig_View]  HLA-DRB1 [Vega]
ICGC DataPortalENSG00000196126
cBioPortalHLA-DRB1
AceView (NCBI)HLA-DRB1
Genatlas (Paris)HLA-DRB1
WikiGenes3123
SOURCE (Princeton)HLA-DRB1
Genomic and cartography
GoldenPath hg19 (UCSC)HLA-DRB1  -     chr6:32546547-32557613 -  6p21.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HLA-DRB1  -     6p21.32   [Description]    (hg38-Dec_2013)
EnsemblHLA-DRB1 - 6p21.32 [CytoView hg19]  HLA-DRB1 - 6p21.32 [CytoView hg38]
Mapping of homologs : NCBIHLA-DRB1 [Mapview hg19]  HLA-DRB1 [Mapview hg38]
OMIM126200   142857   180300   181000   
Gene and transcription
Genbank (Entrez)AF010142 AF017440 AF017441 AF291675 AF436097
RefSeq transcript (Entrez)NM_001243965 NM_002124
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_002392 NG_002432 NG_002433 NG_029921 NT_007592 NT_113891 NT_167245 NT_167246 NT_167248 NT_167249 NW_001841135 NW_004929326
Consensus coding sequences : CCDS (NCBI)HLA-DRB1
Cluster EST : UnigeneHs.736560 [ NCBI ]
CGAP (NCI)Hs.736560
Alternative Splicing : Fast-db (Paris)GSHG0026500
Alternative Splicing GalleryENSG00000196126
Gene ExpressionHLA-DRB1 [ NCBI-GEO ]     HLA-DRB1 [ SEEK ]   HLA-DRB1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9TQE0 (Uniprot)
NextProtQ9TQE0  [Medical]
With graphics : InterProQ9TQE0
Splice isoforms : SwissVarQ9TQE0 (Swissvar)
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    IG_MHC (PS00290)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig/MHC_CS    Ig_C1-set    MHC_I/II-like_Ag-recog    MHC_II_a/b_N    MHC_II_b_N   
Related proteins : CluSTrQ9TQE0
Domain families : Pfam (Sanger)C1-set (PF07654)    MHC_II_beta (PF00969)   
Domain families : Pfam (NCBI)pfam07654    pfam00969   
Domain families : Smart (EMBL)IGc1 (SM00407)  MHC_II_beta (SM00921)  
Domain structure : Prodom (Prabi Lyon)MHC_II_b_N (PD000328)   
DMDM Disease mutations3123
Blocks (Seattle)Q9TQE0
Human Protein AtlasENSG00000196126
Peptide AtlasQ9TQE0
HPRD08349
IPIIPI00465279   IPI00639888   
Protein Interaction databases
DIP (DOE-UCLA)Q9TQE0
IntAct (EBI)Q9TQE0
FunCoupENSG00000196126
BioGRIDHLA-DRB1
IntegromeDBHLA-DRB1
STRING (EMBL)HLA-DRB1
Ontologies - Pathways
QuickGOQ9TQE0
Ontology : AmiGOGolgi membrane  immunoglobulin production involved in immunoglobulin mediated immune response  immunoglobulin production involved in immunoglobulin mediated immune response  inflammatory response to antigenic stimulus  humoral immune response mediated by circulating immunoglobulin  humoral immune response mediated by circulating immunoglobulin  peptide antigen assembly with MHC class II protein complex  polysaccharide assembly with MHC class II protein complex  lysosomal membrane  lysosomal membrane  plasma membrane  integral component of plasma membrane  immune response  immune response  external side of plasma membrane  cell surface  ER to Golgi transport vesicle membrane  membrane  membrane  detection of bacterium  cytokine-mediated signaling pathway  antigen processing and presentation of exogenous peptide antigen via MHC class II  MHC class II protein complex binding  transport vesicle membrane  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  T cell costimulation  late endosome membrane  MHC class II receptor activity  MHC class II receptor activity  trans-Golgi network membrane  regulation of interleukin-4 production  negative regulation of interferon-gamma production  positive regulation of insulin secretion involved in cellular response to glucose stimulus  T-helper 1 type immune response  negative regulation of T cell proliferation  peptide antigen binding  peptide antigen binding  MHC class II protein complex  MHC class II protein complex  MHC class II protein complex  T cell receptor signaling pathway  protein tetramerization  interferon-gamma-mediated signaling pathway  extracellular vesicular exosome  integral component of lumenal side of endoplasmic reticulum membrane  regulation of interleukin-10 secretion  
Ontology : EGO-EBIGolgi membrane  immunoglobulin production involved in immunoglobulin mediated immune response  immunoglobulin production involved in immunoglobulin mediated immune response  inflammatory response to antigenic stimulus  humoral immune response mediated by circulating immunoglobulin  humoral immune response mediated by circulating immunoglobulin  peptide antigen assembly with MHC class II protein complex  polysaccharide assembly with MHC class II protein complex  lysosomal membrane  lysosomal membrane  plasma membrane  integral component of plasma membrane  immune response  immune response  external side of plasma membrane  cell surface  ER to Golgi transport vesicle membrane  membrane  membrane  detection of bacterium  cytokine-mediated signaling pathway  antigen processing and presentation of exogenous peptide antigen via MHC class II  MHC class II protein complex binding  transport vesicle membrane  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  T cell costimulation  late endosome membrane  MHC class II receptor activity  MHC class II receptor activity  trans-Golgi network membrane  regulation of interleukin-4 production  negative regulation of interferon-gamma production  positive regulation of insulin secretion involved in cellular response to glucose stimulus  T-helper 1 type immune response  negative regulation of T cell proliferation  peptide antigen binding  peptide antigen binding  MHC class II protein complex  MHC class II protein complex  MHC class II protein complex  T cell receptor signaling pathway  protein tetramerization  interferon-gamma-mediated signaling pathway  extracellular vesicular exosome  integral component of lumenal side of endoplasmic reticulum membrane  regulation of interleukin-10 secretion  
Pathways : BIOCARTABystander B Cell Activation [Genes]    Lck and Fyn tyrosine kinases in initiation of TCR Activation [Genes]    The Co-Stimulatory Signal During T-cell Activation [Genes]    Cytokines and Inflammatory Response [Genes]    Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor [Genes]    IL 5 Signaling Pathway [Genes]    Th1/Th2 Differentiation [Genes]    Antigen Dependent B Cell Activation [Genes]    B Lymphocyte Cell Surface Molecules [Genes]    The Role of Eosinophils in the Chemokine Network of Allergy [Genes]    Antigen Processing and Presentation [Genes]   
Pathways : KEGGPhagosome    Cell adhesion molecules (CAMs)    Antigen processing and presentation    Hematopoietic cell lineage    Intestinal immune network for IgA production    Type I diabetes mellitus    Leishmaniasis    Toxoplasmosis    Staphylococcus aureus infection    Tuberculosis    Influenza A    HTLV-I infection    Herpes simplex infection    Epstein-Barr virus infection    Asthma    Autoimmune thyroid disease    Inflammatory bowel disease (IBD)    Systemic lupus erythematosus    Rheumatoid arthritis    Allograft rejection    Graft-versus-host disease    Viral myocarditis   
Protein Interaction DatabaseHLA-DRB1
DoCM (Curated mutations)HLA-DRB1
Wikipedia pathwaysHLA-DRB1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerHLA-DRB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HLA-DRB1
dbVarHLA-DRB1
ClinVarHLA-DRB1
1000_GenomesHLA-DRB1 
Exome Variant ServerHLA-DRB1
SNP (GeneSNP Utah)HLA-DRB1
SNP : HGBaseHLA-DRB1
Genetic variants : HAPMAPHLA-DRB1
Genomic VariantsHLA-DRB1  HLA-DRB1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000196126 
Somatic Mutations in Cancer : COSMICHLA-DRB1 
CONAN: Copy Number AnalysisHLA-DRB1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:32546547-32557613
Mutations and Diseases : HGMDHLA-DRB1
OMIM126200    142857    180300    181000   
MedgenHLA-DRB1
NextProtQ9TQE0 [Medical]
GENETestsHLA-DRB1
Disease Genetic AssociationHLA-DRB1
Huge Navigator HLA-DRB1 [HugePedia]  HLA-DRB1 [HugeCancerGEM]
snp3D : Map Gene to Disease3123
DGIdb (Drug Gene Interaction db)HLA-DRB1
General knowledge
Homologs : HomoloGeneHLA-DRB1
Homology/Alignments : Family Browser (UCSC)HLA-DRB1
Phylogenetic Trees/Animal Genes : TreeFamHLA-DRB1
Chemical/Protein Interactions : CTD3123
Chemical/Pharm GKB GenePA35072
Clinical trialHLA-DRB1
Cancer Resource (Charite)ENSG00000196126
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineHLA-DRB1
GoPubMedHLA-DRB1
iHOPHLA-DRB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 22:01:07 CET 2014
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