CST3
entrez
1471
canonical
uniprot
P01034
canonical
ensembl
ENSG00000101439
resolver
ensp
ENSP00000366124
resolver
ensp
ENSP00000381446
resolver
ensp
ENSP00000381448
resolver
ensp
ENSP00000549237
resolver
enst
ENST00000376925
resolver
enst
ENST00000398409
resolver
enst
ENST00000398411
resolver
enst
ENST00000879178
resolver
genesymbol
CST3
resolver
genesymbol
HEL-S-2
resolver
hgnc
HGNC:2475
resolver
uniprot
A0A0K0K1J1
resolver
uniprot
B2R5J9
resolver
uniprot
D3DW42
resolver
uniprot
Q6FGW9
resolver
uniprot_entry
A0A0K0K1J1_HUMAN
resolver
uniprot_entry
CYTC_HUMAN
resolver
uniprot_sec
B2R5J9
resolver
uniprot_sec
D3DW42
resolver
uniprot_sec
Q6FGW9
resolver
amino_acid_sequence
MAGPLRAPLLLLAILAVALAVSPAAGSSPGKPPRLVGGPMDASVEEEGVRRALDFAVGEYNKASNDMYHSRALQVVRARKQIVAGVNYFLDVELGRTTCTKTQPNLDNCPFHDQPHLKRKAFCSFQIYAVPWQGTMTLSKSTCQDA
uniprot
proteins
disease_involvement
DISEASE: Cerebral amyloid angiopathy, CST3-related (CAA-CST3) [MIM:105150]: An autosomal dominant disorder characterized by cystatin C amyloid accumulation 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 intracranial 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 variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:11815350, ECO:0000269|PubMed:19838169, ECO:0000269|PubMed:2764935}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy (ADLDWA) [MIM:621214]: An autosomal dominant, adult-onset disorder characterized by recurrent episodes of hemiplegic migraine associated with transient unilateral focal deficits, slowly progressing motor symptoms and cognitive decline, and brain anomalies affecting the deep cerebral white matter, posterior limb of the internal capsule, middle cerebellar peduncles, cerebral peduncles, and globus pallidus. Histopathologic analysis shows micro- to macrocystic degeneration of the white matter, and absence of cerebral amyloid angiopathy or amyloid deposition. Some patients show acute clinical deterioration and prolonged episodes with reduced consciousness and even early death. {ECO:0000269|PubMed:38489591, ECO:0000269|PubMed:38729262}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
15799
uniprot
proteins
mutagenesis
MUTAGEN 25; /note="A->S: Shows a dual distribution to the Golgi apparatus and to the mitochondria."; /evidence="ECO:0000269|PubMed:16635487
uniprot
proteins
post_translational_modification
PTM: The 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}.
uniprot
proteins
protein_family
Cystatin family
uniprot
proteins
pubmed
11276250
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
11815350
uniprot
proteins
pubmed
1352269
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15274116
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16170782
uniprot
proteins
pubmed
16635487
uniprot
proteins
pubmed
19838169
uniprot
proteins
pubmed
20189825
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22905912
uniprot
proteins
pubmed
2363674
uniprot
proteins
pubmed
2541223
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26091039
uniprot
proteins
pubmed
2764935
uniprot
proteins
pubmed
3495457
uniprot
proteins
pubmed
38489591
uniprot
proteins
pubmed
38729262
uniprot
proteins
pubmed
6283552
uniprot
proteins
pubmed
6365094
uniprot
proteins
pubmed
6662498
uniprot
proteins
sequence_length
146
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:20189825}.
uniprot
proteins