CST3 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
CST3
Official Name
cystatin C [Source:HGNC Symbol;Acc:HGNC:2475]
Ensembl ID
ENSG00000101439
Bio databases IDs NCBI: 1471 Ensembl: ENSG00000101439
Aliases cystatin C
Synonyms ARMD11, CYSC, cystatin C, gamma-TRACE, HEL-S-2, γ-TRACE
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CST3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • endopeptidase inhibitor
  • CY
  • cysteine protease inhibitor activity
  • protease binding
  • protease inhibitor
  • protein binding
  • beta-amyloid binding
  • identical protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • pain
  • Waldenström macroglobulinemia
  • prostate cancer
  • cognitive impairment
  • organismal death
  • rheumatoid arthritis
  • Sjögren syndrome
  • abdominal aortic aneurysm
  • androgenic alopecia
  • renal tubular disorder
regulated by
  • dexamethasone
  • lipopolysaccharide
  • EGFR
  • progesterone
  • TGFB1
  • PAX3
  • Immunoglobulin
  • losartan potassium
  • CSTB
  • Ebna3c
regulates
role in cell
  • migration
  • expression in
  • production in
  • cell death
  • degradation in
  • formation
  • differentiation
  • motility
  • cell viability
  • chemotaxis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • ficolin-1-rich granule lumen
  • organelle lumens
  • Plasma Membrane
  • vesicles
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • endoplasmic reticulum lumen
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CST3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of elastin catabolic process
  • negative regulation of extracellular matrix disassembly
  • regulation of tissue remodeling
  • negative regulation of proteolysis
  • negative regulation of collagen catabolic process
  • defense response
  • negative regulation of cysteine-type endopeptidase activity
  • negative regulation of blood vessel remodeling
  • negative regulation of peptidase activity

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum lumen
  • extracellular space
  • extracellular vesicular exosome
  • cytoplasm
  • vesicle
  • endoplasmic reticulum
  • Golgi apparatus
  • extracellular region
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • peptidase inhibitor activity
  • identical protein binding
  • endopeptidase inhibitor activity
  • protein binding
  • cysteine-type endopeptidase inhibitor activity
  • protease binding
  • beta-amyloid binding

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