InnateDB: Systems Biology of the Innate Immune Response

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

Method

Confidence

Comments

ENSMUSG00000027447

View Gene Order

Ortholuge

SSD Ortholog

Ortholog supports species divergence

ENSBTAG00000000598

Not yet available

Ortholuge

SSD Ortholog

Ortholog supports species divergence

Pathways

NETPATH

REACTOME

REACT_75925

Amyloids pathway

REACT_116125

Disease pathway

KEGG

hsa04970

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