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MGP000710

UniProt Annotations

Entry Information
Gene Namecystatin C
Protein EntryCYTC_HUMAN
UniProt IDP01034
SpeciesHuman
Comments
Comment typeDescription
DiseaseAmyloidosis 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:0000269|PubMed:1352269, ECO:0000269|PubMed:2541223}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMacular 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:0000269|PubMed:11815350}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
FunctionAs an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity.
Mass SpectrometryMass=13334.5829; Mass_error=0.0140; Method=Electrospray; Range=27-146; Evidence={ECO:0000269|PubMed:20189825};
MiscellaneousPotential cerebrospinal fluid marker for the diagnosis of Creutzfeldt-Jakob disease.
PtmThe Thr-25 variant is O-glycosylated with a core 1 or possibly core 8 glycan. The signal peptide of the O-glycosylated Thr-25 variant is cleaved between Ala-20 and Val-21. {ECO:0000269|PubMed:19838169}.
SimilarityBelongs to the cystatin family. {ECO:0000305}.
Subcellular LocationSecreted {ECO:0000269|PubMed:20189825}.
SubunitHomodimer.
Tissue SpecificityExpressed 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:0000269|PubMed:15274116, ECO:0000269|PubMed:20189825}.
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