CST3
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. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
cystatin C | MIM:604312 | Ensembl:ENSG00000101439 | HGNC:HGNC:2475 | PA26976 | 20p11.21 |
GO terms in CST3
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IPI | GO:0001540 | amyloid-beta binding |
MF | IPI | GO:0002020 | protease binding |
MF | IDA | GO:0004866 | endopeptidase inhibitor activity |
MF | IDA | GO:0004869 | cysteine-type endopeptidase inhibitor activity |
MF | IPI | GO:0005515 | protein binding |
MF | IPI | GO:0042802 | identical protein binding |
CC | IMP | GO:0005576 | extracellular region |
CC | TAS | GO:0005576 | extracellular region |
CC | IEA | GO:0005604 | basement membrane |
CC | HDA | GO:0005615 | extracellular space |
CC | IBA | GO:0005615 | extracellular space |
CC | IDA | GO:0005615 | extracellular space |
CC | IEA | GO:0005764 | lysosome |
CC | IEA | GO:0005771 | multivesicular body |
CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
CC | IEA | GO:0030424 | axon |
CC | IEA | GO:0031965 | nuclear membrane |
CC | IEA | GO:0043025 | neuronal cell body |
CC | IEA | GO:0043292 | contractile fiber |
CC | IEA | GO:0048471 | perinuclear region of cytoplasm |
CC | HDA | GO:0070062 | extracellular exosome |
CC | TAS | GO:1904724 | tertiary granule lumen |
CC | TAS | GO:1904813 | ficolin-1-rich granule lumen |
BP | IEA | GO:0001654 | eye development |
BP | IEA | GO:0001666 | response to hypoxia |
BP | IEA | GO:0006915 | apoptotic process |
BP | IDA | GO:0006952 | defense response |
BP | IEA | GO:0007420 | brain development |
BP | IEA | GO:0007431 | salivary gland development |
BP | IEA | GO:0007566 | embryo implantation |
BP | IEA | GO:0008284 | positive regulation of cell proliferation |
BP | IEA | GO:0009743 | response to carbohydrate |
BP | IDA | GO:0010466 | negative regulation of peptidase activity |
BP | IEP | GO:0010711 | negative regulation of collagen catabolic process |
BP | IC | GO:0010716 | negative regulation of extracellular matrix disassembly |
BP | IEP | GO:0010716 | negative regulation of extracellular matrix disassembly |
BP | IEA | GO:0031667 | response to nutrient levels |
BP | IEA | GO:0032355 | response to estradiol |
BP | IEP | GO:0034103 | regulation of tissue remodeling |
BP | IEA | GO:0042747 | circadian sleep/wake cycle, REM sleep |
BP | IEA | GO:0043067 | regulation of programmed cell death |
BP | TAS | GO:0043312 | neutrophil degranulation |
BP | TAS | GO:0043687 | post-translational protein modification |
BP | TAS | GO:0044267 | cellular protein metabolic process |
BP | IEA | GO:0045740 | positive regulation of DNA replication |
BP | IDA | GO:0045861 | negative regulation of proteolysis |
BP | IEA | GO:0048678 | response to axon injury |
BP | IEA | GO:0060009 | Sertoli cell development |
BP | IMP | GO:0060311 | negative regulation of elastin catabolic process |
BP | IEP | GO:0060313 | negative regulation of blood vessel remodeling |
BP | IEA | GO:0060548 | negative regulation of cell death |
BP | IEA | GO:0070301 | cellular response to hydrogen peroxide |
BP | IGI | GO:0097435 | supramolecular fiber organization |
Gene expression in normal tissue: CST3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CST3
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-168249 | Innate Immune System |
reactome | R-HSA-168256 | Immune System |
reactome | R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
reactome | R-HSA-392499 | Metabolism of proteins |
reactome | R-HSA-597592 | Post-translational protein modification |
reactome | R-HSA-6798695 | Neutrophil degranulation |
reactome | R-HSA-8957275 | Post-translational protein phosphorylation |
reactome | R-HSA-977225 | Amyloid fiber formation |
kegg | hsa04970 | Salivary secretion - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CST3