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general/hla-c-alleles

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HLA-C

Protein-coding gene in the species Homo sapiens


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.

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

By [[allele]]

C*16: B-cell chronic lymphocytic leukemia

Nomenclature

C*01

  • Cw1 serotype: C01:02 and C01:09
  • Cw11
  • C*01:04 to 01:08 C02
  • Cw2 serotype: C*02:02 and *02:08
  • C*02:03 to 02:07, and 02:09 C03
  • Cw9 serotype: C*03:03
  • Cw10 serotype: C*03:02, *03:04, and *03:06
  • Cw3 serotype: C*03:07
  • C03:05 and 03:08 C04
  • Cw4 serotype: C*0401, *0407, and 0410 C05
  • Cw5 serotype: C*05:01 and *05:02
  • C*05:03 to *05:06 and *05:08 to 05:10 C06
  • Cw6 serotype: C*06:02 and *06:05
  • C*06:03, *06:04 and *06:06 to 06:11 C07
  • 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 C08
  • 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:

  • KIR2DL1,
  • Leukocyte immunoglobulin-like receptor family:
    • particularly the activating receptor LILRA1
    • LILRA3

References

References

  1. (2006). "Associations of HLA-C alleles with multinodular goiters: study in a population from southeastern Spain.". Arch Surg.
  2. (2006). "Human leucocyte antigen-C in B chronic lymphocytic leukaemia.". Br J Haematol.
  3. (December 2002). "Disulfide bond-mediated dimerization of HLA-G on the cell surface". Proc. Natl. Acad. Sci. U.S.A..
  4. (December 2000). "N-linked carbohydrate on human leukocyte antigen-C and recognition by natural killer cell inhibitory receptors". Hum. Immunol..
  5. (September 1998). "Kinetics of interaction of HLA-C ligands with natural killer cell inhibitory receptors". Immunity.
  6. (May 2001). "Crystal structure of the human natural killer cell inhibitory receptor KIR2DL1-HLA-Cw4 complex". Nat. Immunol..
  7. (March 2011). "HLA class I allelic sequence and conformation regulate leukocyte Ig-like receptor binding". J. Immunol..
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