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)
End	31,272,130 bp
RNA expression pattern
	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
	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
	3107
	n/a
ENSG00000204525; ENSG00000233841; ENSG00000228299; ENSG00000225691; ENSG00000206435;
	ENSG00000237022; ENSG00000206452
	n/a
	P10321
	n/a
	NM_002117; NM_001243042
	n/a
	NP_001229971; NP_002108
	n/a
	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 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

^ ^a ^b ^c ENSG00000233841, ENSG00000228299, ENSG00000225691, ENSG00000206435, ENSG00000237022, ENSG00000206452 GRCh38: Ensembl release 89: ENSG00000204525, ENSG00000233841, ENSG00000228299, ENSG00000225691, ENSG00000206435, ENSG00000237022, ENSG00000206452 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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

[refGRCh38Ensembl-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.

[pmid12454284-5] 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.

[pmid11163076-6] 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.

[pmid9768753-7] 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.

[pmid11323700-8] 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.

[pmid21270408-9] 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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

v t e Major histocompatibility complex classes
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
Other	Human leukocyte antigen Minor histocompatibility antigen Blood transfusion Arrestin Calgranulin Human blood group systems Cell adhesion molecules Cluster of differentiation