HLA-C

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; OMA:HLA-C - orthologs
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 Bgee Human Mouse (ortholog) Top expressed in blood right lung spleen granulocyte right uterine tube appendix bone marrow upper lobe of left lung lymph node bone marrow cells n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function peptide antigen binding protein binding Cellular component integral component of membrane phagocytic vesicle membrane Golgi apparatus early endosome membrane membrane Golgi membrane plasma 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 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 (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^[3]

By allele

C*16: B-cell 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

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

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. S2CID 23018830.
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. Bibcode:2002PNAS...9916180B. 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. S2CID 24707532.
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. S2CID 33749514.
• 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. S2CID 34731265.

External links

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