Homo sapiens Gene: CST3
Summary
InnateDB Gene IDBG-60095.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CST3
Gene Name cystatin C
Synonyms ARMD11;
Species Homo sapiens
Ensembl Gene ENSG00000101439
Encoded Proteins
cystatin C
cystatin C
cystatin C
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:23626706-23638473
Strand Reverse strand
Band p11.21
Transcripts
ENST00000376925 ENSP00000366124
ENST00000398411 ENSP00000381448
ENST00000398409 ENSP00000381446
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001540 beta-amyloid binding
GO:0002020 protease binding
GO:0004866 endopeptidase inhibitor activity
GO:0004869 cysteine-type endopeptidase inhibitor activity
GO:0005515 protein binding
Biological Process
GO:0006952 defense response
GO:0010466 negative regulation of peptidase activity
GO:0010711 negative regulation of collagen catabolic process
GO:0010716 negative regulation of extracellular matrix disassembly
GO:0010951 negative regulation of endopeptidase activity
GO:0034103 regulation of tissue remodeling
GO:0043206 extracellular fibril organization
GO:0045861 negative regulation of proteolysis
GO:0060311 negative regulation of elastin catabolic process
GO:0060313 negative regulation of blood vessel remodeling
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Amyloids pathway
Disease pathway
KEGG
Salivary secretion pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P01034
TrEMBL E9RH26
UniProt Splice Variant
Entrez Gene 1471
UniGene Hs.304682 Hs.712867
RefSeq NM_000099 NM_001288614
HUGO HGNC:2475
OMIM 604312
CCDS CCDS13158
HPRD 05056
IMGT
EMBL AB587083 AK312213 AL121894 BC013083 BC110305 BT006839 CH471133 CR541988 CR542018 M27889 M27890 M27891 X05607 X52255 X61681 X61682 X61683
GenPept AAA52164 AAH13083 AAI10306 AAP35485 BAG35146 BAJ83816 CAA29096 CAA36497 CAA43856 CAC05424 CAG46785 CAG46815 EAX10137 EAX10138
RNA Seq Atlas 1471