HLA-C
Sign in to saveAlso known as D6S204, HLA-JY3, HLC-C, PSORS1, HLAC, major histocompatibility complex, class I, C, MHC
HLA-C (Human Leukocyte Antigen-C) belongs to the MHC class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin. The mature C chain is anchored in the membrane. MHC Class I molecules, like HLA-C, are expressed in nearly all cells, and present small peptides to the immune system which surveys for non-self peptides.
Gene data
HLA-C- Name
- major histocompatibility complex, class I, C
- Type
- protein-coding
- Position
- 31,268,749–31,272,130 (−)
- Aliases
- D6S204, HLA-JY3, HLAC, HLC-C, MHC, PSORS1
- Ensembl
- ENSG00000204525
- RefSeq RNA
- NM_001243042.1, NM_002117.6
- RefSeq protein
- NP_001229971.1, NP_002108.4
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
major histocompatibility complex, class I, C
- Symbol
- HLA-C
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 6:31,268,746-31,272,171
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- HLA-C.png
Show 6 more facts
- HomoloGene ID
- 133080
- genomic start
- 31268749
- exact match
- identifiers.org/ncbigene/3107
- genomic end
- 31239907
- cytogenetic location
- 6p21.33
- Commons category
- HLA-C
via Wikidata · CC0
~2 min read
Article
9 sectionsContents
- Disease associations
- By [[serotype]]
- By [[allele]]
- Nomenclature
- Common haplotype
- Interactions
- References
- Further reading
- External links
HLA-C (Human Leukocyte Antigen-C) belongs to the MHC class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin. The mature C chain is anchored in the membrane. MHC Class I molecules, like HLA-C, are expressed in nearly all cells, and present small peptides to the immune system which surveys for non-self peptides.
HLA-C is a locus on chromosome 6, which encodes for many HLA-C alleles that are Class-I MHC receptors. HLA-C, localized proximal to the HLA-B locus, is located on the distal end of the HLA region. Most HLA-C:B haplotypes are in strong linkage disequilibrium and many are as ancient as the human species itself.