
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
HLA-C
Introduction
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
Disease associations
By serotype
Cw1: multinodular goiters[1]
By allele
C*16: B chronic lymphocytic leukemia[2]
Nomenclature
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
- 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
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)
References
References
- ↑ RÃos A, RodrÃguez 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.
- ↑ 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, MarÃn 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.
- ↑ 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. doi:10.1073/pnas.212643199. PMC 138585. PMID 12454284.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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
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.
- Greenway AL, Holloway G, McPhee DA, Ellis P, Cornall A, Lidman M (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, Manjappara U, Chaiken IM, Freire E (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, Pedersen SF, Duch M (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.
