Version 5.4
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
IDBP-60097
cystatin C
IDBP-233123
cystatin C
IDBP-233125
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
ENSMUSG00000027447
View Gene Order
ENSBTAG00000000598
Not yet available
Pathways
NETPATH
REACTOME
REACT_75925
Amyloids pathway
REACT_116125
Disease pathway
KEGG
hsa04970
Salivary secretion pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.304682 Hs.712867
RefSeq NM_000099 NM_001288614
HUGO
OMIM
CCDS CCDS13158
HPRD 05056
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca