HLA-CW*01:02

HLA-C

HLA-C

Protein-coding gene in the species Homo sapiens

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.

Quick Facts Available structures, PDB ...

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]
    ENSG00000233841, ENSG00000228299, ENSG00000225691, ENSG00000206435, ENSG00000237022, ENSG00000206452 GRCh38: Ensembl release 89: ENSG00000204525, ENSG00000233841, ENSG00000228299, ENSG00000225691, ENSG00000206435, ENSG00000237022, ENSG00000206452 – Ensembl, May 2017
  2. [2]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. [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. [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. [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. [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. [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. [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. [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.

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