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CST3 cystatin C [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000099 Homo sapiens cystatin C (CST3), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10
NM_001288614 Homo sapiens cystatin C (CST3), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $299.00 14

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Gene Symbol CST3
Entrez Gene ID 1471
Full Name cystatin C
Synonyms ARMD11
General protein information
Preferred Names
cystatin-C
Names
cystatin-C
cystatin 3
cystatin-3
gamma-trace
post-gamma-globulin
bA218C14.4 (cystatin C)
neuroendocrine basic polypeptide
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

20

20p11.21

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].
Disorder

MIM: 604312

Cerebral amyloid angiopathy, 105150 (3); Macular degeneration,

mRNA Protein Product Sequence Price Select
NM_000099, 568599816 NP_000090, 4503107 cystatin-C precursor ORF Sequence $99.00
NM_001288614, 568599831 NP_001275543, 568599832 cystatin-C precursor ORF Sequence $150.00
KEGG
hsa04970Salivary secretion
WikiPathways
WP2377Integrated Pancreatic Cancer Pathway
Reactome
REACT_75925Amyloids
REACT_116125Disease
Homo sapiens (human)CST3NP_000090.1
Pan troglodytes (chimpanzee)CST3XP_001146702.2
Macaca mulatta (Rhesus monkey)CST3NP_001028096.1
Canis lupus familiaris (dog)LOC607874XP_003639869.1
Bos taurus (cattle)CST3NP_776454.1
Mus musculus (house mouse)Cst3NP_034106.2
Rattus norvegicus (Norway rat)Cst3NP_036969.1
Gallus gallus (chicken)CST3NP_990831.2
Xenopus (Silurana) tropicalis (western clawed frog)LOC100485774XP_002934915.1
Process
IDNameEvidence
GO:0006952defense responseIDA
GO:0010466negative regulation of peptidase activityIDA
GO:0010711negative regulation of collagen catabolic processIEP
GO:0010716negative regulation of extracellular matrix disassemblyIC
GO:0010716negative regulation of extracellular matrix disassemblyIEP
GO:0010951negative regulation of endopeptidase activityIDA
GO:0010951negative regulation of endopeptidase activityIEA
GO:0034103regulation of tissue remodelingIEP
GO:0043206extracellular fibril organizationIGI
GO:0045861negative regulation of proteolysisIDA
GO:0060311negative regulation of elastin catabolic processIMP
GO:0060313negative regulation of blood vessel remodelingIEP
Component
IDNameEvidence
GO:0005576extracellular regionIMP
GO:0005576extracellular regionTAS
GO:0005615extracellular spaceIDA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0001540beta-amyloid bindingIPI
GO:0002020protease bindingIPI
GO:0004866endopeptidase inhibitor activityIDA
GO:0004869cysteine-type endopeptidase inhibitor activityIDA
GO:0005515protein bindingIPI
GeneCards CST3
PDB 1G96, 3NX0, 1TIJ, 3S67, 3PS8, 3QRD, 3GAX, 3SVA, 1R4C
UniProt P01034
Vega OTTHUMG00000032080
MIM 604312
Ensembl ENSG00000101439
HGNC 2475
HPRD 05056

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the CST3 gene?

The CST3 gene provides instructions for making a protein called cystatin C. This protein is part of a family of proteins called cysteine protease inhibitors that help control several types of chemical reactions by blocking (inhibiting) the activity of certain enzymes. Cystatin C inhibits the activity of enzymes called cathepsins that cut apart other proteins in order to break them down.

Cystatin C is found in biological fluids, such as blood. Its levels are especially high in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF).

Interactant

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