HLA-C

HLA-C
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesHLA-C, D6S204, HLA-JY3, HLC-C, PSORS1, major histocompatibility complex, class I, C, MHC
External IDsOMIM: 142840 HomoloGene: 133080 GeneCards: HLA-C
Gene location (Human)
Chr.Chromosome 6 (human)[1]
BandNo data availableStart31,268,749 bp[1]
End31,272,130 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

3107

n/a

Ensembl

n/a

UniProt

n/a

RefSeq (mRNA)

NM_002117
NM_001243042

n/a

RefSeq (protein)

NP_001229971
NP_002108

n/a

Location (UCSC)Chr 6: 31.27 – 31.27 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

HLA-C belongs to the MHC (human = HLA) 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 a large number of 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.

Disease associations

By serotype

Cw1: multinodular goiters[3]

By allele

C*16: B chronic lymphocytic leukemia[4]

Nomenclature

C*01


C*02


C*03


C*04


C*05


C*06


C*08


Others

Common haplotype

Cw4-B35 (Western Africa to Native Americans) Cw7-B7 (Western Eurasia, South Africa) Cw7-B8 (Western Eurasia) Cw1-B46 (China, Indochina) Cw5-B44 (Western Eurasia)

Interactions

HLA-C has been shown to interact with:

References

  1. 1 2 3 ENSG00000233841, ENSG00000228299, ENSG00000225691, ENSG00000206435, ENSG00000237022, ENSG00000206452 GRCh38: Ensembl release 89: ENSG00000204525, ENSG00000233841, ENSG00000228299, ENSG00000225691, ENSG00000206435, ENSG00000237022, ENSG00000206452 - Ensembl, May 2017
  2. ↑ "Human PubMed Reference:".
  3. ↑ Ríos A, Rodríguez JM, Moya MR, Galindo PJ, Canteras M, Alvarez MR, Parrilla P (2006). "Associations of HLA-C alleles with multinodular goiters: study in a population from southeastern Spain.". Arch Surg. 141 (2): 123–8. PMID 16490887. doi:10.1001/archsurg.141.2.123.
  4. ↑ Montes-Ares O, Moya-Quiles MR, Montes-Casado M, Guerra-Pérez N, Campillo JA, González C, López-Bermejo A, Tamayo M, Majado MJ, Parrado A, Muro M, Marín L, Alvarez-López MR (2006). "Human leucocyte antigen-C in B chronic lymphocytic leukaemia.". Br J Haematol. 135 (4): 517–9. PMID 17054674. doi:10.1111/j.1365-2141.2006.06334.x.
  5. ↑ Boyson JE, Erskine R, Whitman MC, Chiu M, Lau JM, Koopman LA, Valter MM, Angelisova P, Horejsi V, Strominger JL (December 2002). "Disulfide bond-mediated dimerization of HLA-G on the cell surface". Proc. Natl. Acad. Sci. U.S.A. 99 (25): 16180–5. PMC 138585 Freely accessible. PMID 12454284. doi:10.1073/pnas.212643199.
  6. ↑ Baba E, Erskine R, Boyson JE, Cohen GB, Davis DM, Malik P, Mandelboim O, Reyburn HT, Strominger JL (December 2000). "N-linked carbohydrate on human leukocyte antigen-C and recognition by natural killer cell inhibitory receptors". Hum. Immunol. 61 (12): 1202–18. PMID 11163076. doi:10.1016/s0198-8859(00)00184-1.
  7. ↑ Valés-Gómez M, Reyburn HT, Mandelboim M, Strominger JL (September 1998). "Kinetics of interaction of HLA-C ligands with natural killer cell inhibitory receptors". Immunity. 9 (3): 337–44. PMID 9768753. doi:10.1016/s1074-7613(00)80616-0.
  8. ↑ Fan QR, Long EO, Wiley DC (May 2001). "Crystal structure of the human natural killer cell inhibitory receptor KIR2DL1-HLA-Cw4 complex". Nat. Immunol. 2 (5): 452–60. PMID 11323700. doi:10.1038/87766.
  9. ↑ Jones DC, Kosmoliaptsis V, Apps R, Lapaque N, Smith I, Kono A, Chang C, Boyle LH, Taylor CJ, Trowsdale J, Allen RL (March 2011). "HLA class I allelic sequence and conformation regulate leukocyte Ig-like receptor binding". J. Immunol. 186 (5): 2990–7. PMID 21270408. doi:10.4049/jimmunol.1003078.

Further reading

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