Gene Gene information from NCBI Gene database.
Entrez ID 3105
Gene name Major histocompatibility complex, class I, A
Gene symbol HLA-A
Synonyms (NCBI Gene)
HLAA
Chromosome 6
Chromosome location 6p22.1
Summary HLA-A 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1061235 A>T Risk-factor 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
303
miRTarBase ID miRNA Experiments Reference
MIRT019424 hsa-miR-148b-3p Microarray 17612493
MIRT021411 hsa-miR-9-5p Microarray 17612493
MIRT022132 hsa-miR-124-3p Microarray 18668037
MIRT025003 hsa-miR-183-5p Sequencing 20371350
MIRT040433 hsa-miR-615-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
CIITA Activation 10329350
HIVEP2 Unknown 1409593
IRF1 Activation 19428110
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.
79
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001913 Process T cell mediated cytotoxicity IDA 7504010
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IBA
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IDA 2420472, 8805302, 22031944, 25631937
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142800 4931 ENSG00000206503
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04439
Protein name HLA class I histocompatibility antigen, A alpha chain (Human leukocyte antigen A) (HLA-A)
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 1AKJ , 1AO7 , 1AQD , 1B0G , 1B0R , 1BD2 , 1DUY , 1DUZ , 1EEY , 1EEZ , 1HHG , 1HHH , 1HHI , 1HHJ , 1HHK , 1HLA , 1HSB , 1I1F , 1I1Y , 1I4F , 1I7R , 1I7T , 1I7U , 1IM3 , 1JF1 , 1JHT , 1LP9 , 1OGA , 1P7Q , 1Q94 , 1QEW , 1QR1 , 1QRN , 1QSE , 1QSF , 1QVO , 1S8D , 1S9W , 1S9X , 1S9Y , 1T1W , 1T1X , 1T1Y , 1T1Z , 1T20 , 1T21 , 1T22 , 1TMC , 1TVB , 1TVH , 1W72
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 210 290 Immunoglobulin C1-set domain Domain
PF06623 MHC_I_C 337 364 MHC_I C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000305}.
Sequence
Sequence length 365
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
Nef mediated downregulation of MHC class I complex cell surface expression
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Neutrophil degranulation
Interferon gamma signaling
E3 ubiquitin ligases ubiquitinate target proteins
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.
58
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs2231004, rs1136689, rs1136690, rs9260138, rs9260139, rs9260140, rs1136691, rs1136695, rs1136700, rs1059488, rs3173420, rs1059506, rs1059517, rs1059536, rs9256983
View all (27 more)
-
Abnormality of neuronal migration Benign rs199474493, rs281864764 RCV000201367
RCV000201406
Acute myeloid leukemia - rs1137110 RCV005931795
Adrenocortical carcinoma, hereditary - rs1137110 RCV005931796