HLA-C

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
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 3BZF,%%s4NT6,%%s1EFX,%%s1IM9, 1QQD
Identifiers
Aliases	HLA-C, D6S204, HLA-JY3, HLC-C, PSORS1, major histocompatibility complex, class I, C, MHC
External IDs	OMIM: 142840 HomoloGene: 133080 GeneCards: HLA-C
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p21.33 Start 31,268,749 bp[1] End 31,272,130 bp[1]
RNA expression pattern More reference expression data
Gene ontology Molecular function • peptide antigen binding • GO:0001948 protein binding Cellular component • integral component of membrane • phagocytic vesicle membrane • Golgi apparatus • early endosome membrane • membrane • Golgi membrane • cell membrane • cell surface • endoplasmic reticulum • MHC class I protein complex • ER to Golgi transport vesicle membrane • integral component of lumenal side of endoplasmic reticulum membrane • extracellular exosome • secretory granule membrane • recycling endosome membrane Biological process • antigen processing and presentation • antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent • immune system process • interferon-gamma-mediated signaling pathway • antigen processing and presentation of peptide antigen via MHC class I • antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent • type I interferon signaling pathway • immune response • regulation of immune response • GO:0022415 viral process • neutrophil degranulation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3107	n/a
Ensembl	ENSG00000204525 ENSG00000233841 ENSG00000228299 ENSG00000225691 ENSG00000206435 ENSG00000237022 ENSG00000206452	n/a
UniProt	P10321	n/a
RefSeq (mRNA)	NM_002117 NM_001243042	n/a
RefSeq (protein)	NP_001229971 NP_002108	n/a
Location (UCSC)	Chr 6: 31.27 – 31.27 Mb	n/a
PubMed search	[2]	n/a
Wikidata
View/Edit Human

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[3]

By allele

C*16: B chronic lymphocytic leukemia[4]

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

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,[5][6][7][8]
• LILRA3 [9]
• Leukocyte immunoglobulin-like receptor family, particularly the activating receptor LILRA1

References

1. ENSG00000233841, ENSG00000228299, ENSG00000225691, ENSG00000206435, ENSG00000237022, ENSG00000206452 GRCh38: Ensembl release 89: ENSG00000204525, ENSG00000233841, ENSG00000228299, ENSG00000225691, ENSG00000206435, ENSG00000237022, ENSG00000206452 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Ríos A, Rodríguez 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.
4. 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 (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.
5. 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.
6. 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.
7. 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.
8. 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.
9. 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

• 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.

External links

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