Gene Gene information from NCBI Gene database.
Entrez ID 3107
Gene name Major histocompatibility complex, class I, C
Gene symbol HLA-C
Synonyms (NCBI Gene)
D6S204HLA-JY3HLACHLC-CMHCPSORS1
Chromosome 6
Chromosome location 6p21.33
Summary HLA-C 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.
243
miRTarBase ID miRNA Experiments Reference
MIRT051644 hsa-let-7e-5p CLASH 23622248
MIRT042611 hsa-miR-423-3p CLASH 23622248
MIRT041720 hsa-miR-484 CLASH 23622248
MIRT487939 hsa-miR-6854-5p PAR-CLIP 23592263
MIRT487938 hsa-miR-148a-3p PAR-CLIP 23592263
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.
51
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:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142840 4933 ENSG00000204525
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10321
Protein name HLA class I histocompatibility antigen, C alpha chain (HLA-C) (HLA-Cw) (Human leukocyte antigen C)
Protein function Antigen-presenting major histocompatibility complex class I (MHCI) molecule with an important role in reproduction and antiviral immunity (PubMed:11172028, PubMed:20104487, PubMed:20439706, PubMed:20972337, PubMed:24091323, PubMed:28649982, PubM
PDB 1EFX , 1IM9 , 1QQD , 3BZF , 4NT6 , 5VGD , 5VGE , 5W67 , 5W69 , 5W6A , 6JTO , 6PA1 , 6PAG
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 338 365 MHC_I C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in fetal extravillous trophoblasts in the decidua basalis (at protein level). {ECO:0000269|PubMed:20972337}.
Sequence
Sequence length 366
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
52
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, PSORIATIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 25860853
★☆☆☆☆
Found in Text Mining only
ACTH Deficiency, Isolated ACTH Deficiency BEFREE 31468541
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 6150234
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 26456260, 9753057
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 31598144
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 29885883
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 2820223
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 26456260
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 19081173
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 20819442
★☆☆☆☆
Found in Text Mining only