Homo sapiens Gene: HLA-C

Summary
InnateDB Gene IDBG-77290.5
Last Modified 2012-02-14   [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-237893 major histocompatibility complex, class I, C
IDBP-370775 major histocompatibility complex, class I, C
IDBP-589654 major histocompatibility complex, class I, C
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: 31236526-31239907
Strand Reverse strand
Band p21.33
Transcripts
ENST00000376237  ENSP00000365412
ENST00000376228  ENSP00000365402
ENST00000383329  ENSP00000372819
ENST00000396254  ENSP00000379553
ENST00000458701 
ENST00000415537  ENSP00000400410
ENST00000487245 
ENST00000470363 
ENST00000466892 
ENST00000495835 
ENST00000484378 
ENST00000539307  ENSP00000440406
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
Experimentally validated
Total 15 [view]
Protein‑Protein  15
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0005515 protein binding
Biological Process
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:0019048 virus-host interaction
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:0050776 regulation of immune response
GO:0060333 interferon-gamma-mediated signaling pathway
GO:0060337 type I interferon-mediated signaling pathway
Cellular Component
GO:0000139 Golgi membrane
GO:0005886 plasma membrane
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0016021 integral to membrane
GO:0030670 phagocytic vesicle membrane
GO:0031901 early endosome membrane
GO:0042612 MHC class I protein complex
GO:0071556 integral to lumenal side of endoplasmic reticulum membrane
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
REACT_75795 Antigen Presentation: Folding, assembly and peptide loading of class I MHC
REACT_111178 ER-Phagosome pathway
REACT_111168 Endosomal/Vacuolar pathway
REACT_11152 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
REACT_25162 Interferon alpha/beta signaling
REACT_25078 Interferon gamma signaling
KEGG
hsa05330  Allograft rejection
hsa04612  Antigen processing and presentation
hsa05320  Autoimmune thyroid disease
hsa04514  Cell adhesion molecules (CAMs)
hsa04144  Endocytosis
hsa05332  Graft-versus-host disease
hsa04650  Natural killer cell mediated cytotoxicity
hsa04145  Phagosome
hsa04940  Type I diabetes mellitus
hsa05416  Viral myocarditis
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P10321 
TrEMBL A2AEA2 A2AEA4 B0JF23 B1PQ27 B4DVY0 B5BLP2 B8Y6A8 B9WPN5 C0KJZ4 C5IZU6 C5IZU8 C5J031 C6JSX9 C6K4M5 C6K4N7 C6K4N9 C6K4P2 C7C4Z5 C7EDP3 C7FDT6 C7FDU2 C7FDU3 C8CH96 C8CHA9 C9WER2 C9WER5 C9WER9 C9WES3 C9WEU1 C9WEV1 C9WEV2 D2DKH1 D3U3P6 D3U3P8 D3U733 D3U748 D3U749 D5FZM4 D5FZR1 D5M8B1 D6C6C3 D6C6D4 D6C6D5 D6C6F9 D6MJH9 D6MJI1 D6MJJ2 D6MKV1 D6ML93 D6MLD2 D6MLE9 D7NP34 D7NQZ6 D7RJ45 D9UAZ7 E0WBV8 E0WBV9 E0X9L4 E0YTN9 E0YTP0 E1U661 E1Y7F7 E2DHB8 E2GJH5 E2GJI9 E3Q1I6 E3SGA4 E3SGA7 E3SGA8 E3SWK0 F1CCJ3 F1CCK3 F1CCL2 F2VNQ1 F2VNQ5 F2VNR5 F2VNS0 F4YU76 F4YU88 F5GXA6 F6IQJ9 F6IQK1 F6IQK2 F6IQK3 F6IQK4 F6IQK5 F6IQK7 F6IQL2 F6IQL4 F6IQL6 F6IQL8 F6KRW3 F6KRW4 F6KRX3 F6KRX9 F6KRY0 F6KRY2 F6KRY5 F6KS07 F6KS09 F6KS10 F6KS12 F6KVT8 F8R1B3 F8R8K2 F8SKY8 F8SKZ4 F8SKZ5 F8SKZ7 F8SL01 F8SL02 F8SY67 F8W9Z8 G0WVC4 G0X8S7 G0ZMJ9 G0ZMM1 G1EMQ7 G1EMR0 G1EMR4 G1EMR6 G1EMR7 G1EMS2 G1EMS4 G1EMT2 G1EMT3 G1EMT7 G1EMT8 G1EMU5 G1EMU8 G1ENT0 G1ENT1 G1ENT3 G1ENT7 G1ENT9 G1ENV2 G1ENV3 G1ENV4 G1ENW0 G1ENW1 G1ENX1 G1ENX4 G1ENX7 G1EQ55 G1EQ80 G1EQD5 G1EQH0 G1EQI3 G1EQI7 G3D6E6 G3D6F5 G3D6F7 G3D6G8 G3D6H6 G9HW51 G9HW96 G9HWA8 G9HWA9 G9I2N2 G9I2N5 G9I2N8 G9I2P1 H2BE96 H2DMJ8 H2DMK4 H6A2G1 H6V083 H9BQ94 H9BQ96 I2GUK7 I6M569 I6M570 I6MHJ6 I6NN86 I6NS49 I6NXH6 I6NXM6 I6SJ94 I6TF01 I6TN19 I6TRX6 I6TRY5 I7A4F1 I7APJ0 J7JHR0 J7JWN4 J7K040 O19579 Q0MT77 Q29752 Q5C9P9 Q6R739 Q8HWG1 Q8HWM5 Q95HC2 Q9MY32 Q9TNT2
UniProt Splice Variant
Entrez Gene 3107 
UniGene Hs.732433
RefSeq NM_002117 
HUGO 4933 
OMIM 142840
CCDS CCDS34393 
HPRD 00829
IMGT