CST3

GENE INFORMATION

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Gene name

CST3

Synonyms

Description

Cystatin C (HGNC Symbol)

Entrez gene summary

The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Dec 2013]

Chromosome

20

Cytoband

p11.21

Chromosome location (bp)

23608534 - 23619110

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000101439 (version 75.37)

Entrez gene

1471

UniProt

P01034 (UniProt - Evidence at protein level)

neXtProt

NX_P01034

Antibodypedia

CST3 antibodies
 

PROTEIN VIEW

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CST3-001
 
CST3-002
 
CST3-003
 
 
 
 
 

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)

CST3-001 ENSP00000366124
ENST00000376925
P01034
Show all »
Show » Show » 146 15.8 Yes 0
CST3-002 ENSP00000381448
ENST00000398411
P01034
Show all »
Show » Show » 146 15.8 Yes 0
CST3-003 ENSP00000381446
ENST00000398409
P01034
Show all »
Show » Show » 146 15.8 Yes 0