HLA-C

Major histocompatibility complex, class I, C
Illustation 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 1IM9, 1QQD, 3BZF
Identifiers
Symbols	HLA-C; D6S204; FLJ27082; HLA-JY3; HLC-C; PSORS1
External IDs	OMIM: 142840 HomoloGene: 110784 GeneCards: HLA-C Gene
Gene Ontology Molecular function • MHC class I receptor activity Cellular component • extracellular region • plasma membrane • plasma membrane • integral to plasma membrane • membrane • integral to membrane • MHC class I protein complex Biological process • antigen processing and presentation of peptide antigen via MHC class I • immune response • immune response • cytokine-mediated signaling pathway • antigen processing and presentation • interspecies interaction between organisms • regulation of immune response • interferon-gamma-mediated signaling pathway • type I interferon-mediated signaling pathway Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3107	14964
Ensembl	ENSG00000204525	ENSMUSG00000073411
UniProt	P10321	n/a
RefSeq (mRNA)	NM_002117.4	NM_010380.3
RefSeq (protein)	NP_002108.4	NP_034510.3
Location (UCSC)	Chr 6: 31.34 – 31.35 Mb	Chr 17: 35.4 – 35.4 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 is 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

By Serotype

Cw1: Multinodular goiters^[1]

By Allele

Cw*16: B chronic lymphocytic leukemia^[2]

Nomenclature

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

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.^[3][4][5][6] and with various members of the Leukocyte immunoglobulin-like receptor family, particularly the activating receptors LILRA1 and LILRA3 ^[7]

References

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 (Dec. 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=138585. 
4. ^ Baba, E; Erskine R, Boyson J E, Cohen G B, Davis D M, Malik P, Mandelboim O, Reyburn H T, Strominger J L (Dec. 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 (Sep. 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 (Mar 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

• Geyer M, Fackler OT, Peterlin BM (2001). "Structure--function relationships in HIV-1 Nef.". EMBO Rep. 2 (7): 580–5. doi:10.1093/embo-reports/kve141. PMC 1083955. PMID 11463741. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1083955. 
• Greenway AL, Holloway G, McPhee DA, et al. (2004). "HIV-1 Nef control of cell signalling molecules: multiple strategies to promote virus replication.". J. Biosci. 28 (3): 323–35. doi:10.1007/BF02970151. PMID 12734410. 
• Bénichou S, Benmerah A (2003). "[The HIV nef and the Kaposi-sarcoma-associated virus K3/K5 proteins: "parasites"of the endocytosis pathway]". Med Sci (Paris) 19 (1): 100–6. doi:10.1051/medsci/2003191100. PMID 12836198. 
• Leavitt SA, SchOn A, Klein JC, et al. (2004). "Interactions of HIV-1 proteins gp120 and Nef with cellular partners define a novel allosteric paradigm.". Curr. Protein Pept. Sci. 5 (1): 1–8. doi:10.2174/1389203043486955. PMID 14965316. 
• Tolstrup M, Ostergaard L, Laursen AL, et al. (2004). "HIV/SIV escape from immune surveillance: focus on Nef.". Curr. HIV Res. 2 (2): 141–51. doi:10.2174/1570162043484924. PMID 15078178. 
• Joseph AM, Kumar M, Mitra D (2005). "Nef: "necessary and enforcing factor" in HIV infection.". Curr. HIV Res. 3 (1): 87–94. doi:10.2174/1570162052773013. PMID 15638726. 
• Anderson JL, Hope TJ (2005). "HIV accessory proteins and surviving the host cell.". Current HIV/AIDS reports 1 (1): 47–53. doi:10.1007/s11904-004-0007-x. PMID 16091223. 

External links

• Molecular Anthropology Yahoo Group
• HLA Allele and Haplotype Frequency Database