HLA-C

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Major histocompatibility complex, class I, C
HLA-C.png
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 C: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]

C*16: B chronic lymphocytic leukemia[2]

Nomenclature[edit]

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
  • 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


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[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]