CSTA
entrez
1475
canonical
uniprot
P01040
canonical
ensembl
ENSG00000121552
resolver
ensp
ENSP00000264474
resolver
enst
ENST00000264474
resolver
genesymbol
CSTA
resolver
genesymbol_syn
STF1
resolver
genesymbol_syn
STFA
resolver
hgnc
HGNC:2481
resolver
uniprot
Q6IB90
resolver
uniprot_entry
CYTA_HUMAN
resolver
uniprot_sec
Q6IB90
resolver
amino_acid_sequence
MIPGGLSEAKPATPEIQEIVDKVKPQLEEKTNETYGKLEAVQYKTQVVAGTNYYIKVRAGDNKYMHLKVFKSLPGQNEDLVLTGYQVDKNKDDELTGF
uniprot
proteins
disease_involvement
DISEASE: Peeling skin syndrome 4 (PSS4) [MIM:607936]: A genodermatosis characterized by congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. PSS4 presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of non-erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes. {ECO:0000269|PubMed:21944047}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis. {ECO:0000269|PubMed:21944047}.
uniprot
proteins
mass_dalton
11006
uniprot
proteins
protein_family
Cystatin family
uniprot
proteins
pubmed
1286667
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1940442
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21944047
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2442723
uniprot
proteins
pubmed
2768224
uniprot
proteins
pubmed
6689312
uniprot
proteins
pubmed
7578072
uniprot
proteins
pubmed
7869384
uniprot
proteins
pubmed
9522124
uniprot
proteins
pubmed
9651321
uniprot
proteins
sequence_length
98
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21944047}.
uniprot
proteins