CST6
entrez
1474
canonical
uniprot
Q15828
canonical
ensembl
ENSG00000175315
resolver
ensp
ENSP00000311313
resolver
enst
ENST00000312134
resolver
genesymbol
CST6
resolver
hgnc
HGNC:2478
resolver
uniprot
Q540N7
resolver
uniprot_entry
CYTM_HUMAN
resolver
uniprot_sec
Q540N7
resolver
amino_acid_sequence
MARSNLPLALGLALVAFCLLALPRDARARPQERMVGELRDLSPDDPQVQKAAQAAVASYNMGSNSIYYFRDTHIIKAQSQLVAGIKYFLTMEMGSTDCRKTRVTGDHVDLTTCPLAAGAQQEKLRCDFEVLVVPWQNSSQLLKHNCVQM
uniprot
proteins
disease_involvement
DISEASE: Ectodermal dysplasia 15, hypohidrotic/hair type (ECTD15) [MIM:618535]: A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD15 is an autosomal recessive form characterized by hypotrichosis and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia. {ECO:0000269|PubMed:30425301}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: High affinity inhibitor for cathepsin L, cathepsin L2 (cathepsin V), and legumain (PubMed:30425301). Involved in the regulation of epidermal cornification, and hair follicle morphogenesis and maintenance (PubMed:30425301). {ECO:0000269|PubMed:30425301}.
uniprot
proteins
mass_dalton
16511
uniprot
proteins
post_translational_modification
PTM: Substrate for transglutaminases. Acts as an acyl acceptor but not as an acyl donor.
uniprot
proteins
protein_family
Cystatin family
uniprot
proteins
pubmed
11348457
uniprot
proteins
pubmed
12839564
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
30425301
uniprot
proteins
pubmed
8995380
uniprot
proteins
pubmed
9099741
uniprot
proteins
sequence_length
149
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins