HLA-C

GENE INFORMATION

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Gene name

HLA-C (HGNC Symbol)

Synonyms

D6S204, HLA-JY3

Description

Major histocompatibility complex, class I, C (HGNC Symbol)

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]

Chromosome

6

Cytoband

p21.33

Chromosome location (bp)

31236526 - 31239907

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000204525 (version 75.37)

Entrez gene

3107

UniProt

P10321 (UniProt - Evidence at protein level)

neXtProt

NX_P10321

Antibodypedia

HLA-C antibodies
 

PROTEIN VIEW

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HLA-C-001
 
HLA-C-002
 
HLA-C-006
 
HLA-C-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HLA-C-001 ENSP00000365402
ENST00000376228
P10321
Show all »
Show » Show » 366 40.6 Yes 1
HLA-C-002 ENSP00000372819
ENST00000383329
A2AEA2
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Show » Show » 372 41.3 Yes 1
HLA-C-006 ENSP00000365412
ENST00000376237
F8W9Z8
Show all »
Show » Show » 131 15.1 Yes 0
HLA-C-007 ENSP00000400410
ENST00000415537
B8Y6A8
Show all »
Show » Show » 261 29.4 Yes 0