HLA-C

Available structures

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

Genetically Related Diseases

chronic obstructive pulmonary disease, psoriatic arthritis^[1]

Gene ontology
Molecular function	• peptide antigen binding • antigen binding • TAP 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 • integral component of plasma membrane • extracellular region
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 • antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent • innate immune response
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


3107


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Ensembl


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UniProt

P10321 Q29963 Q95604 Q07000 P30508
Q29960 P30499 Q9TNN7 Q29865 P30510 P30505 P04222 P30501 P30504


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RefSeq (mRNA)


NM_002117 NM_001243042


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RefSeq (protein)


NP_002108.4


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Location (UCSC)

Chr 6: 31.27 – 31.27 Mb

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PubMed search

^[2]

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Wikidata

View/Edit Human

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

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

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] with various members of the
LILRA3 ^[9] and
Leukocyte immunoglobulin-like receptor family, particularly the activating receptors LILRA1 and

References

↑ "Diseases that are genetically associated with HLA-C view/edit references on wikidata".
↑ "Human PubMed Reference:".
↑ 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.
↑ 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.
↑ 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.

External links

Surface antigens

Major histocompatibility complex/
Human leukocyte antigen

MHC class I	HLA-A HLA-B HLA-C HLA-E HLA-F HLA-G

MHC class II	HLA-DM α β HLA-DO α β HLA-DP α1 β1 HLA-DQ α1 α2 β1 β2 β3 HLA-DR α β1 β3 β4 β5 Minor histocompatibility antigen

Other

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