HLA-C

Major histocompatibility complex, class I, C
250px Illustration of an HLA-C showing the HLA-B 'alpha' chain, ?2-Microglobulin, and the end of a peptide bound in the binding cleft.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 3BZF
Identifiers
Symbols	HLA-C ; D6S204; HLA-JY3; HLC-C; PSORS1
External IDs	OMIM: 142840 HomoloGene: 133080 GeneCards: HLA-C Gene
Gene ontology Molecular function • peptide antigen binding • TAP binding Cellular component • Golgi membrane • extracellular region • endoplasmic reticulum • Golgi apparatus • plasma membrane • integral component of plasma membrane • cell surface • ER to Golgi transport vesicle membrane • phagocytic vesicle membrane • early endosome membrane • MHC class I protein complex • extracellular exosome • integral component of lumenal side of endoplasmic reticulum membrane Biological process • antigen processing and presentation of peptide antigen via MHC class I • antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent • antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent • antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent • immune response • viral process • cytokine-mediated signaling pathway • antigen processing and presentation of exogenous peptide antigen via MHC class I • innate immune response • regulation of immune response • interferon-gamma-mediated signaling pathway • type I interferon signaling pathway Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE HLA-C 209140 x at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3107	14964
Ensembl	ENSG00000204525	ENSMUSG00000073411
UniProt	P10321	P01899
RefSeq (mRNA)	NM_001243042	NM_010380.3
RefSeq (protein)	NP_001229971	NP_034510.3
Location (UCSC)	Chr 6: 31.27 – 31.36 Mb	Chr 17: 35.26 – 35.27 Mb
PubMed search	[1]	[2]

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

By allele

C*16: B chronic lymphocytic leukemia

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, with various members of the
• LILRA3 and
• Leukocyte immunoglobulin-like receptor family, particularly the activating receptors LILRA1 and

External links

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