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
Orthologs
SpeciesHumanMouse
Entrez

3107

n/a

Ensembl

n/a

UniProt

P10321

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 (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.

Disease associations

By serotype

Cw1: multinodular goiters[3]

By allele

C*16: B-cell chronic lymphocytic leukemia[4]

Nomenclature

C*01

  • Cw1 serotype: C*01:02 and C*01:09
  • Cw11
  • C*01:04 to *01:08


C*02

  • Cw2 serotype: C*02:02 and *02:08
  • C*02:03 to *02:07, and 02:09


C*03

  • Cw9 serotype: C*03:03
  • Cw10 serotype: C*03:02, *03:04, and *03:06
  • Cw3 serotype: C*03:07
  • C*03:05 and 03:08


C*04

  • Cw4 serotype: C*0401, *0407, and *0410


C*05

  • Cw5 serotype: C*05:01 and *05:02
  • C*05:03 to *05:06 and *05:08 to *05:10


C*06

  • Cw6 serotype: C*06:02 and *06:05
  • C*06:03, *06:04 and *06:06 to *06:11


C*07

  • Cw7 serotype: C*07:01 to *07:06, *07:12, *07:14, *07:16
  • C*07:07 to *07:11, *07:13, *07:15, and *07:17 to *07:29


C*08

  • Cw8 serotype: C*08:01, *08:02 and *08:03
  • C*08:05 to *08:12


Others

  • C*12:02 to *12:15
  • C*14:02 to *14:05
  • C*15:01 to *15:11
  • C*16:01 to *16:06
  • C*17:01 to *17:03
  • C*18:01 and *18:02

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:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. doi:10.1001/archsurg.141.2.123. PMID 16490887.
  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. doi:10.1111/j.1365-2141.2006.06334.x. PMID 17054674. S2CID 23018830.
  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. Bibcode:2002PNAS...9916180B. doi:10.1073/pnas.212643199. PMC 138585. PMID 12454284.
  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. doi:10.1016/s0198-8859(00)00184-1. PMID 11163076.
  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. doi:10.1016/s1074-7613(00)80616-0. PMID 9768753.
  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. doi:10.1038/87766. PMID 11323700. S2CID 24707532.
  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. doi:10.4049/jimmunol.1003078. PMID 21270408.

Further reading

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