Homo sapiens Gene: CST3 | |||||||||||||||||||||||
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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
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Protein Structure |
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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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 20:23626706-23638473 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | p11.21 | ||||||||||||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Method
Confidence
Comments
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Amyloids pathway
Disease pathway
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KEGG |
Salivary secretion pathway
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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 | ||||||||||||||||||||||