InnateDB Protein
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IDBP-233123.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CST3
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Protein Name
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cystatin C
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Synonyms
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ARMD11;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000381448
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InnateDB Gene
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IDBG-60095 (CST3)
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Protein Structure
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Function |
As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity.
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Subcellular Localization |
Secreted {ECO:0000269PubMed:20189825}.
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Disease Associations |
Amyloidosis 6 (AMYL6) [MIM:105150]: A hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low. {ECO:0000269PubMed:1352269, ECO:0000269PubMed:2541223}. Note=The disease is caused by mutations affecting the gene represented in this entry.Macular degeneration, age-related, 11 (ARMD11) [MIM:611953]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269PubMed:11815350}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in various body fluids, such as the cerebrospinal fluid and plasma. Expressed in highest levels in the epididymis, vas deferens, brain, thymus, and ovary and the lowest in the submandibular gland. {ECO:0000269PubMed:15274116, ECO:0000269PubMed:20189825}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
7
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
GO:0006952
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defense response
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GO:0010466
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negative regulation of peptidase activity
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GO:0010711
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negative regulation of collagen catabolic process
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GO:0010716
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negative regulation of extracellular matrix disassembly
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GO:0010951
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negative regulation of endopeptidase activity
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GO:0034103
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regulation of tissue remodeling
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GO:0043206
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extracellular fibril organization
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GO:0045861
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negative regulation of proteolysis
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GO:0060311
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negative regulation of elastin catabolic process
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GO:0060313
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negative regulation of blood vessel remodeling
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Cellular Component |
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PDB ID |
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InterPro |
IPR000010
Proteinase inhibitor I25, cystatin
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PFAM |
PF00031
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PRINTS |
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PIRSF |
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SMART |
SM00043
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TIGRFAMs |
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Modification |
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SwissProt |
P01034
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PhosphoSite |
PhosphoSite-
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TrEMBL |
E9RH26
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UniProt Splice Variant |
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Entrez Gene |
1471
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UniGene |
Hs.712867
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RefSeq |
NP_001275543
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HUGO |
HGNC:2475
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OMIM |
604312
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CCDS |
CCDS13158
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HPRD |
05056
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IMGT |
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EMBL |
AB587083
AK312213
AL121894
BC013083
BC110305
BT006839
CH471133
CR541988
CR542018
M27889
M27890
M27891
X05607
X52255
X61681
X61682
X61683
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GenPept |
AAA52164
AAH13083
AAI10306
AAP35485
BAG35146
BAJ83816
CAA29096
CAA36497
CAA43856
CAC05424
CAG46785
CAG46815
EAX10137
EAX10138
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