InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: HLA-C

Summary

InnateDB Gene

IDBG-77290.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HLA-C

Gene Name

major histocompatibility complex, class I, C

Synonyms

D6S204; HLA-JY3; HLC-C; PSORS1

Species

Homo sapiens

Ensembl Gene

ENSG00000204525

Encoded Proteins

IDBP-77292

major histocompatibility complex, class I, C

IDBP-77361

major histocompatibility complex, class I, C

IDBP-124896

major histocompatibility complex, class I, C

IDBP-370775

major histocompatibility complex, class I, C

IDBP-811043

major histocompatibility complex, class I, C

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 6:31268749-31357158

Strand

Reverse strand

Band

p21.33

Transcripts

ENST00000376237	ENSP00000365412
ENST00000376228	ENSP00000365402
ENST00000383329	ENSP00000372819
ENST00000415537	ENSP00000400410
ENST00000487245
ENST00000470363
ENST00000466892
ENST00000495835
ENST00000484378
ENST00000620806	ENSP00000480331

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.

Experimentally validated
Total	29 [view]
Protein-Protein	29 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0042605	peptide antigen binding

Biological Process

GO:0001916	positive regulation of T cell mediated cytotoxicity
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent
GO:0006955	immune response
GO:0016032	viral process
GO:0019221	cytokine-mediated signaling pathway
GO:0019882	antigen processing and presentation
GO:0042590	antigen processing and presentation of exogenous peptide antigen via MHC class I
GO:0045087	innate immune response
GO:0050776	regulation of immune response
GO:0060333	interferon-gamma-mediated signaling pathway
GO:0060337	type I interferon signaling pathway

Cellular Component

GO:0000139	Golgi membrane
GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0009986	cell surface
GO:0012507	ER to Golgi transport vesicle membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030670	phagocytic vesicle membrane
GO:0031901	early endosome membrane
GO:0042612	MHC class I protein complex
GO:0070062	extracellular vesicular exosome
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane