Gene Gene information from NCBI Gene database.
Entrez ID 3106
Gene name Major histocompatibility complex, class I, B
Gene symbol HLA-B
Synonyms (NCBI Gene)
ASB-4901HLAB
Chromosome 6
Chromosome location 6p21.33
Summary HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the
miRNA miRNA information provided by mirtarbase database.
258
miRTarBase ID miRNA Experiments Reference
MIRT039965 hsa-miR-615-3p CLASH 23622248
MIRT716701 hsa-miR-1306-5p HITS-CLIP 19536157
MIRT716700 hsa-miR-6845-3p HITS-CLIP 19536157
MIRT716699 hsa-miR-626 HITS-CLIP 19536157
MIRT716698 hsa-miR-6876-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
CIITA Activation 11053628
HIVEP2 Unknown 1409593
MYC Activation 8206526
MYCN Unknown 8895520
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
60
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IBA
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IDA 2420472
GO:0002250 Process Adaptive immune response IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142830 4932 ENSG00000234745
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01889
Protein name HLA class I histocompatibility antigen, B alpha chain (Human leukocyte antigen B) (HLA-B)
Protein function Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (
PDB 1A1M , 1A1N , 1A1O , 1A9B , 1A9E , 1AGB , 1AGC , 1AGD , 1AGE , 1AGF , 1CG9 , 1E27 , 1E28 , 1HSA , 1JGD , 1JGE , 1K5N , 1M05 , 1M6O , 1MI5 , 1N2R , 1OF2 , 1OGT , 1SYS , 1SYV , 1UXS , 1UXW , 1W0V , 1W0W , 1XH3 , 1XR8 , 1XR9 , 1ZHK , 1ZHL , 1ZSD , 2A83 , 2AK4 , 2AXF , 2AXG , 2BSR , 2BSS , 2BST , 2BVO , 2BVP , 2BVQ , 2H6P , 2HJL , 2NW3 , 2NX5 , 2RFX , 2YPK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00129 MHC_I 25 203 Class I Histocompatibility antigen, domains alpha 1 and 2 Domain
PF07654 C1-set 211 290 Immunoglobulin C1-set domain Domain
PF06623 MHC_I_C 337 362 MHC_I C-terminus Family
Sequence
Sequence length 362
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis
Phagosome
Cellular senescence
Cell adhesion molecules
Antigen processing and presentation
Natural killer cell mediated cytotoxicity
Type I diabetes mellitus
Human cytomegalovirus infection
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Viral carcinogenesis
Autoimmune thyroid disease
Allograft rejection
Graft-versus-host disease
Viral myocarditis
  ER-Phagosome pathway
Endosomal/Vacuolar pathway
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
DAP12 interactions
Neutrophil degranulation
Interferon gamma signaling
Interferon alpha/beta signaling
Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Pathogenic rs1369055141 RCV004560305
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HLA-B-related disorder Benign; Likely benign rs1140412, rs2596492, rs766450595, rs749557905, rs4997052, rs1131204, rs750527298, rs576010607, rs3180380, rs200488894, rs375356947, rs66473235, rs9266183 RCV003974583
RCV003974709
RCV003974304
RCV003984705
RCV003982453
RCV003982545
RCV003977295
RCV003979086
RCV003979260
RCV003981878
RCV003976513
RCV003976681
RCV003972149