HLA-C

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Major histocompatibility complex, class I, C

Illustration of an HLA-C showing the HLA-B 'alpha' chain, ?2-Microglobulin, and the end of a peptide bound in the binding cleft.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols HLA-C ; D6S204; HLA-JY3; HLC-C; PSORS1
External IDs OMIM142840 HomoloGene133080 GeneCards: HLA-C Gene
RNA expression pattern
PBB GE HLA-C 209140 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3107 14964
Ensembl ENSG00000204525 ENSMUSG00000073411
UniProt P10321 P01899
RefSeq (mRNA) NM_001243042 NM_010380.3
RefSeq (protein) NP_001229971 NP_034510.3
Location (UCSC) Chr 6:
31.24 – 31.24 Mb
Chr 17:
35.26 – 35.27 Mb
PubMed search [1] [2]

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 Cw:B haplotypes are in strong linkage disequilibrium and many are as ancient as the human species itself.

Disease Associations[edit]

By Serotype[edit]

Cw1: Multinodular goiters[1]

By Allele[edit]

Cw*16: B chronic lymphocytic leukemia[2]

Nomenclature[edit]

Cw*01

  • Cw1 Serotype: Cw*0102 and Cw*0109
  • Cw11 ?
  • Cw*0104 to *0108


Cw*02

  • Cw2 Serotype: Cw*0202 and *0208
  • Cw*0203 to *0207, and 0209


Cw*03

  • Cw9 Serotype: Cw*0303
  • Cw10 Serotype: Cw*0302, *0304, and *0306
  • Cw3 Serotype: Cw*0307
  • Cw*0305 and 0308


Cw*04

  • Cw4 Serotype: Cw*0401, *0407, and *0410


Cw*05

  • Cw5 Serotype: Cw*0501 and *0502
  • Cw*0503 to *506 and *0508 to *0510


Cw*06

  • Cw6 Serotype: Cw*0602 and *0605
  • Cw6*0603, *0604 and *0606 to *0611
  • Cw7 Serotype: Cw*0701 to *0706, *0712, *0714, *0716
  • Cw*0707 to *0711, *0713, *0715, and *0717 to *0729


Cw*08

  • Cw8 Serotype: Cw*0801, *0802 and *0803
  • Cw*805 to *0812


Cw*1202 to *1215

Cw*1402 to *1405

Cw*1501 to *1511

Cw*1601 to *1606

Cw*1701 to *1703

Cw*1801 and *1802

Common Haplotype[edit]

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[edit]

HLA-C has been shown to interact with KIR2DL1.[3][4][5][6] and with various members of the Leukocyte immunoglobulin-like receptor family, particularly the activating receptors LILRA1 and LILRA3 [7]

References[edit]

  1. ^ Ríos A, Rodríguez J, Moya M, Galindo P, Canteras M, Alvarez M, 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. 
  2. ^ Montes-Ares O, Moya-Quiles M, Montes-Casado M, Guerra-Pérez N, Campillo J, González C, López-Bermejo A, Tamayo M, Majado M, Parrado A, Muro M, Marín L, Alvarez-López M (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. 
  3. ^ Boyson, Jonathan E; Erskine Robert, Whitman Mary C, Chiu Michael, Lau Julie M, Koopman Louise A, Valter Markus M, Angelisova Pavla, Horejsi Vaclav, Strominger Jack L (December 2002). "Disulfide bond-mediated dimerization of HLA-G on the cell surface". Proc. Natl. Acad. Sci. U.S.A. (United States) 99 (25): 16180–5. doi:10.1073/pnas.212643199. ISSN 0027-8424. PMC 138585. PMID 12454284. 
  4. ^ Baba, E; Erskine R, Boyson J E, Cohen G B, Davis D M, Malik P, Mandelboim O, Reyburn H T, Strominger J L (December 2000). "N-linked carbohydrate on human leukocyte antigen-C and recognition by natural killer cell inhibitory receptors". Hum. Immunol. (United States) 61 (12): 1202–18. doi:10.1016/S0198-8859(00)00184-1. ISSN 0198-8859. PMID 11163076. 
  5. ^ Valés-Gómez, M; Reyburn H T, Mandelboim M, Strominger J L (September 1998). "Kinetics of interaction of HLA-C ligands with natural killer cell inhibitory receptors". Immunity (UNITED STATES) 9 (3): 337–44. doi:10.1016/S1074-7613(00)80616-0. ISSN 1074-7613. PMID 9768753. 
  6. ^ Fan, Q R; Long E O, Wiley D C (May 2001). "Crystal structure of the human natural killer cell inhibitory receptor KIR2DL1-HLA-Cw4 complex". Nat. Immunol. (United States) 2 (5): 452–60. doi:10.1038/87766. ISSN 1529-2908. PMID 11323700. 
  7. ^ 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[edit]

External links[edit]