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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 immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. About 6000 HLA-C alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]
HLA-C (Major Histocompatibility Complex, Class I, C) is a Protein Coding gene. Diseases associated with HLA-C include Psoriasis 1 and Human Immunodeficiency Virus Type 1. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and Measles. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and TAP binding. An important paralog of this gene is HLA-B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 18322206 |
GO:0042605 | peptide antigen binding | IDA | 22031944 |
GO:0046977 | TAP binding | IDA | 8617941 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 20946353 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005794 | Golgi apparatus | IDA | 20946353 |
GO:0005886 | plasma membrane | IEA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Allograft rejection |
CTL Mediated Apoptosis
.38
|
|
2 | Antigen processing-Cross presentation |
Immune response Antigen presentation by MHC class I
.51
|
|
3 | Human cytomegalovirus infection | ||
4 | Innate Immune System |
.61
|
|
5 | Immune response Role of DAP12 receptors in NK cells |
Immune response Role of DAP12 receptors in NK cells
.32
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I | TAS | -- |
GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | TAS | -- |
GO:0002480 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Allopurinol | Approved | Pharma | 182 | |||
Carbamazepine | Approved, Investigational | Pharma | Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant | 107 | ||
Carboplatin | Approved | Pharma | Antitumor agent that forms platinum-DNA adducts., Platinum | 2753 | ||
Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2568 | ||
Methazolamide | Approved | Pharma | Carbonic anhydrase inhibitor | 8 |
This gene was present in the common ancestor of human and chimp.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PATR-C 30 31 |
|
OneToOne |