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HLA-C major histocompatibility complex, class I, C [Homo sapiens (human)]

Summary
mRNA and Protein
Pathway
Homologues
Gene Ontology
Links to Other Databases

Gene Symbol	HLA-C
Entrez Gene ID	3107
Full Name	major histocompatibility complex, class I, C
Synonyms	D6S204, FLJ27082, HLA-Cw, HLA-JY3, HLC-C, PSORS1
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:6 Map Location:6p21.3
Summary	HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq].
Disorder	MIM: 142840 {Psoriasis susceptibility 1}, 177900 (3); {HIV-1

mRNA	NM_002117, 52630341
Protein	NP_002108, 52630342
Product	HLA class I histocompatibility antigen, Cw-1 alpha chain precursor
RefSeq Status	REVIEWED

KEGG

hsa04612	Antigen processing and presentation
hsa05416	Viral myocarditis
hsa04144	Endocytosis
hsa05320	Autoimmune thyroid disease
hsa05330	Allograft rejection
hsa04145	Phagosome
hsa05332	Graft-versus-host disease
hsa04650	Natural killer cell mediated cytotoxicity
hsa04514	Cell adhesion molecules (CAMs)
hsa04940	Type I diabetes mellitus

WikiPathways

Proteasome Degradation

Reactome

REACT_25078	Interferon gamma signaling
REACT_11152	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
REACT_6900	Signaling in Immune system
REACT_25229	Interferon Signaling
REACT_25162	Interferon alpha/beta signaling

Process

ID	Name	Evidence
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IEA
GO:0006955	immune response	IEA
GO:0006955	immune response	NAS
GO:0019221	cytokine-mediated signaling pathway	TAS
GO:0019882	antigen processing and presentation	IEA
GO:0044419	interspecies interaction between organisms	IEA
GO:0050776	regulation of immune response	TAS
GO:0060333	interferon-gamma-mediated signaling pathway	TAS
GO:0060337	type I interferon-mediated signaling pathway	TAS

Component

ID	Name	Evidence
GO:0005576	extracellular region	IEA
GO:0005886	plasma membrane	IEA
GO:0005886	plasma membrane	TAS
GO:0005887	integral to plasma membrane	NAS
GO:0016020	membrane	IEA
GO:0016021	integral to membrane	IEA
GO:0042612	MHC class I protein complex	IEA

Function

ID	Name	Evidence
GO:0032393	MHC class I receptor activity	NAS

GeneCards	HLA-C
PDB	3BZF
UniProt	P30508, Q9TNN7, Q6R739, Q5QT33, E7ERM1, Q29963, A2BF25, B0UY14, Q95HC2, P10321, A2BF24, Q5RIP0, B0UY15
MIM	142840
Ensembl	ENSG00000204525
HGNC	4933
HPRD	00829

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