Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3123
Gene name Gene Name - the full gene name approved by the HGNC.
Major histocompatibility complex, class II, DR beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HLA-DRB1
Synonyms (NCBI Gene) Gene synonyms aliases
DRB1, HLA-DR1B, HLA-DRB, SS1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.32
Summary Summary of gene provided in NCBI Entrez Gene.
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 derive
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT646417 hsa-miR-5692a HITS-CLIP 23824327
MIRT646416 hsa-miR-141-5p HITS-CLIP 23824327
MIRT646415 hsa-miR-1250-3p HITS-CLIP 23824327
MIRT646414 hsa-miR-153-5p HITS-CLIP 23824327
MIRT646413 hsa-miR-6832-3p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
CIITA Unknown 10886240
ILF3 Unknown 7651394
RFX5 Unknown 11258423;18723135
RFXANK Unknown 11258423
RFXAP Unknown 11258423;18723135
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001772 Component Immunological synapse IDA 15322540, 29884618
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IDA 29884618
GO:0001934 Process Positive regulation of protein phosphorylation IDA 24942581
GO:0002250 Process Adaptive immune response IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
142857 4948 ENSG00000196126
Protein
UniProt ID P01911
Protein name HLA class II histocompatibility antigen, DRB1 beta chain (Human leukocyte antigen DRB1) (HLA-DRB1)
Protein function A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T c
PDB 1A6A , 1AQD , 1BX2 , 1D5M , 1D5X , 1D5Z , 1D6E , 1DLH , 1FYT , 1HXY , 1J8H , 1JWM , 1JWS , 1JWU , 1KG0 , 1KLG , 1KLU , 1LO5 , 1PYW , 1R5I , 1SEB , 1SJE , 1SJH , 1T5W , 1T5X , 1YMM , 2FSE , 2G9H , 2IAM , 2IAN , 2ICW , 2IPK , 2OJE , 2SEB , 2WBJ , 2XN9 , 3L6F , 3O6F , 3PDO , 3PGC , 3PGD , 3QXA , 3QXD , 3S4S , 3S5L , 3T0E , 4AEN , 4AH2 , 4C56 , 4E41 , 4FQX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00969 MHC_II_beta 42 116 Class II histocompatibility antigen, beta domain Domain
PF07654 C1-set 128 209 Immunoglobulin C1-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in professional APCs: monocyte/macrophages, dendritic cells and B cells (at protein level) (PubMed:19830726, PubMed:23783831, PubMed:31495665). Expressed in thymic epithelial cells (at protein level) (PubMed:23783831). {ECO:0
Sequence
MVCLKLPGGSCMTALTVTLMVLSSPLALSGDTRPRFLWQPKRECHFFNGTERVRFLDRYF
YNQEESVRFDSDVGEFRAVTELGRPDAEYWNSQKDILEQARAAVDTYCRHNYGVVE
SFTV
QRRVQPKVTVYPSKTQPLQHHNLLVCSVSGFYPGSIEVRWFLNGQEEKAGMVSTGLIQNG
DWTFQTLVMLETVPRSGEVYTCQVEHPSV
TSPLTVEWRARSESAQSKMLSGVGGFVLGLL
FLGAGLFIYFRNQKGHSGLQPTGFLS
Sequence length 266
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Phagosome
Cell adhesion molecules
Antigen processing and presentation
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
Intestinal immune network for IgA production
Type I diabetes mellitus
Leishmaniasis
Toxoplasmosis
Staphylococcus aureus infection
Tuberculosis
Influenza A
Human T-cell leukemia virus 1 infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Asthma
Autoimmune thyroid disease
Inflammatory bowel disease
Systemic lupus erythematosus
Rheumatoid arthritis
Allograft rejection
Graft-versus-host disease
Viral myocarditis
  Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
MHC class II antigen presentation
PD-1 signaling
Interferon gamma signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Systemic lupus erythematosus systemic lupus erythematosus N/A N/A GenCC