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
major histocompatibility complex, class I, C
major histocompatibility complex, class I, C
major histocompatibility complex, class I, C
major histocompatibility complex, class I, C
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
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Interferon alpha/beta signaling pathway
Antigen Presentation: Folding, assembly and peptide loading of class I MHC pathway
Cytokine Signaling in Immune system pathway
Endosomal/Vacuolar pathway pathway
ER-Phagosome pathway pathway
Interferon Signaling pathway
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell pathway
Antigen processing-Cross presentation pathway
Adaptive Immune System pathway
Immune System pathway
Interferon gamma signaling pathway
Class I MHC mediated antigen processing & presentation pathway
KEGG
Endocytosis pathway
Phagosome pathway
Cell adhesion molecules (CAMs) pathway
Antigen processing and presentation pathway
Natural killer cell mediated cytotoxicity pathway
Type I diabetes mellitus pathway
Autoimmune thyroid disease pathway
Allograft rejection pathway
Graft-versus-host disease pathway
Viral myocarditis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.732433
RefSeq NM_002117
HUGO
OMIM
CCDS CCDS34393
HPRD 00829
IMGT
EMBL
GenPept
RNA Seq Atlas