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HLA-C

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

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{{cite journal |vauthors=Ríos A, Rodríguez JM, Moya MR, Galindo PJ, Canteras M, Alvarez MR, Parrilla P | title = Associations of HLA-C alleles with multinodular goiters: study in a population from southeastern Spain. | journal = Arch Surg | volume = 141 | issue = 2 | pages = 123–8 | year = 2006 | pmid = 16490887 | doi = 10.1001/archsurg.141.2.123 | doi-access = free }}

= By [[allele]] =

C*16: B-cell chronic lymphocytic leukemia{{cite journal |vauthors=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, Marín L, Alvarez-López MR | title = Human leucocyte antigen-C in B chronic lymphocytic leukaemia. | journal = Br J Haematol | volume = 135 | issue = 4 | pages = 517–9 | year = 2006 | pmid = 17054674 | doi = 10.1111/j.1365-2141.2006.06334.x | s2cid = 23018830 }}

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


C*07

  • 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

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,{{cite journal |vauthors=Boyson JE, Erskine R, Whitman MC, Chiu M, Lau JM, Koopman LA, Valter MM, Angelisova P, Horejsi V, Strominger JL | title = Disulfide bond-mediated dimerization of HLA-G on the cell surface | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 99 | issue = 25 | pages = 16180–5 | date = December 2002 | pmid = 12454284 | pmc = 138585 | doi = 10.1073/pnas.212643199 | bibcode = 2002PNAS...9916180B | doi-access = free }}{{cite journal |vauthors=Baba E, Erskine R, Boyson JE, Cohen GB, Davis DM, Malik P, Mandelboim O, Reyburn HT, Strominger JL | title = N-linked carbohydrate on human leukocyte antigen-C and recognition by natural killer cell inhibitory receptors | journal = Hum. Immunol. | volume = 61 | issue = 12 | pages = 1202–18 | date = December 2000 | pmid = 11163076 | doi = 10.1016/s0198-8859(00)00184-1}}{{cite journal |vauthors=Valés-Gómez M, Reyburn HT, Mandelboim M, Strominger JL | title = Kinetics of interaction of HLA-C ligands with natural killer cell inhibitory receptors | journal = Immunity | volume = 9 | issue = 3 | pages = 337–44 | date = September 1998 | pmid = 9768753 | doi = 10.1016/s1074-7613(00)80616-0| doi-access = free }}{{cite journal |vauthors=Fan QR, Long EO, Wiley DC | title = Crystal structure of the human natural killer cell inhibitory receptor KIR2DL1-HLA-Cw4 complex | journal = Nat. Immunol. | volume = 2 | issue = 5 | pages = 452–60 | date = May 2001 | pmid = 11323700 | doi = 10.1038/87766 | s2cid = 24707532 }}
  • Leukocyte immunoglobulin-like receptor family:
  • particularly the activating receptor LILRA1
  • LILRA3{{cite journal |vauthors=Jones DC, Kosmoliaptsis V, Apps R, Lapaque N, Smith I, Kono A, Chang C, Boyle LH, Taylor CJ, Trowsdale J, Allen RL | title = HLA class I allelic sequence and conformation regulate leukocyte Ig-like receptor binding | journal = J. Immunol. | volume = 186 | issue = 5 | pages = 2990–7 | date = March 2011 | pmid = 21270408 | doi = 10.4049/jimmunol.1003078 | doi-access = free }}

References

{{reflist|2}}

Further reading

{{refbegin|2}}

  • {{cite journal |vauthors=Geyer M, Fackler OT, Peterlin BM | title = Structure--function relationships in HIV-1 Nef. | journal = EMBO Rep. | volume = 2 | issue = 7 | pages = 580–5 | year = 2001 | pmid = 11463741 | pmc = 1083955 | doi = 10.1093/embo-reports/kve141 }}
  • {{cite journal |vauthors=Greenway AL, Holloway G, McPhee DA, Ellis P, Cornall A, Lidman M | title = HIV-1 Nef control of cell signalling molecules: multiple strategies to promote virus replication. | journal = J. Biosci. | volume = 28 | issue = 3 | pages = 323–35 | year = 2004 | pmid = 12734410 | doi = 10.1007/BF02970151 | s2cid = 33749514 }}
  • {{cite journal |vauthors=Bénichou S, Benmerah A | title = [The HIV nef and the Kaposi-sarcoma-associated virus K3/K5 proteins: "parasites"of the endocytosis pathway] | journal = Med Sci (Paris) | volume = 19 | issue = 1 | pages = 100–6 | year = 2003 | pmid = 12836198 | doi = 10.1051/medsci/2003191100 | doi-access = free }}
  • {{cite journal |vauthors=Leavitt SA, SchOn A, Klein JC, Manjappara U, Chaiken IM, Freire E | title = Interactions of HIV-1 proteins gp120 and Nef with cellular partners define a novel allosteric paradigm. | journal = Curr. Protein Pept. Sci. | volume = 5 | issue = 1 | pages = 1–8 | year = 2004 | pmid = 14965316 | doi = 10.2174/1389203043486955 }}
  • {{cite journal |vauthors=Tolstrup M, Ostergaard L, Laursen AL, Pedersen SF, Duch M | title = HIV/SIV escape from immune surveillance: focus on Nef. | journal = Curr. HIV Res. | volume = 2 | issue = 2 | pages = 141–51 | year = 2004 | pmid = 15078178 | doi = 10.2174/1570162043484924 }}
  • {{cite journal |vauthors=Joseph AM, Kumar M, Mitra D | title = Nef: "necessary and enforcing factor" in HIV infection. | journal = Curr. HIV Res. | volume = 3 | issue = 1 | pages = 87–94 | year = 2005 | pmid = 15638726 | doi = 10.2174/1570162052773013 }}
  • {{cite journal |vauthors=Anderson JL, Hope TJ | title = HIV accessory proteins and surviving the host cell. | journal = Current HIV/AIDS Reports | volume = 1 | issue = 1 | pages = 47–53 | year = 2005 | pmid = 16091223 | doi = 10.1007/s11904-004-0007-x | s2cid = 34731265 }}

{{refend}}

{{PDB Gallery|geneid=3107}}

External links

  • [https://archive.today/20130105095908/http://tech.groups.yahoo.com/group/DNAanthro/ Molecular Anthropology Yahoo Group]
  • [http://www.allelefrequencies.net HLA Allele and Haplotype Frequency Database]

{{Surface antigens}}

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