PCSK1
entrez
5122
canonical
uniprot
P29120
canonical
ensembl
ENSG00000175426
resolver
ensp
ENSP00000308024
resolver
ensp
ENSP00000421600
resolver
genesymbol
PCSK1
resolver
genesymbol_syn
NEC1
resolver
hgnc
HGNC:8743
resolver
uniprot
B7Z8T7
resolver
uniprot
E9PHA1
resolver
uniprot
P78478
resolver
uniprot
Q92532
resolver
uniprot_entry
NEC1_HUMAN
resolver
uniprot_sec
B7Z8T7
resolver
uniprot_sec
E9PHA1
resolver
uniprot_sec
P78478
resolver
uniprot_sec
Q92532
resolver
amino_acid_sequence
MERRAWSLQCTAFVLFCAWCALNSAKAKRQFVNEWAAEIPGGPEAASAIAEELGYDLLGQIGSLENHYLFKHKNHPRRSRRSAFHITKRLSDDDRVIWAEQQYEKERSKRSALRDSALNLFNDPMWNQQWYLQDTRMTAALPKLDLHVIPVWQKGITGKGVVITVLDDGLEWNHTDIYANYDPEASYDFNDNDHDPFPRYDPTNENKHGTRCAGEIAMQANNHKCGVGVAYNSKVGGIRMLDGIVTDAIEASSIGFNPGHVDIYSASWGPNDDGKTVEGPGRLAQKAFEYGVKQGRQGKGSIFVWASGNGGRQGDNCDCDGYTDSIYTISISSASQQGLSPWYAEKCSSTLATSYSSGDYTDQRITSADLHNDCTETHTGTSASAPLAAGIFALALEANPNLTWRDMQHLVVWTSEYDPLANNPGWKKNGAGLMVNSRFGFGLLNAKALVDLADPRTWRSVPEKKECVVKDNDFEPRALKANGEVIIEIPTRACEGQENAIKSLEHVQFEATIEYSRRGDLHVTLTSAAGTSTVLLAERERDTSPNGFKNWDFMSVHTWGENPIGTWTLRITDMSGRIQNEGRIVNWKLILHGTSSQPEHMKQPRVYTSYNTVQNDRRGVEKMVDPGEEQPTQENPKENTLVSKSPSSSSVGGRRDELEEGAPSQAMLRLLQSAFSKNSPPKQSPKKSPSAKLNIPYENFYEALEKLNKPSQLKDSEDSLYNDYVDVFYNTKPYKHRDDRLLQALVDILNEEN
uniprot
proteins
disease_involvement
DISEASE: Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]: Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones. {ECO:0000269|PubMed:14617756, ECO:0000269|PubMed:17595246, ECO:0000269|PubMed:9207799}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.21.93
uniprot
proteins
function
FUNCTION: Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, oxytocin, vasopressin, enkephalin, dynorphin, somatostatin, insulin and AGRP. {ECO:0000250|UniProtKB:P63239}.
uniprot
proteins
mass_dalton
84152
uniprot
proteins
post_translational_modification
PTM: O-glycosylated. {ECO:0000269|PubMed:23234360}.
uniprot
proteins
protein_family
Furin subfamily
uniprot
proteins
protein_family
Peptidase S8 family
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
14617756
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
1547893
uniprot
proteins
pubmed
1605851
uniprot
proteins
pubmed
17595246
uniprot
proteins
pubmed
18604207
uniprot
proteins
pubmed
23234360
uniprot
proteins
pubmed
7797529
uniprot
proteins
pubmed
8666140
uniprot
proteins
pubmed
9207799
uniprot
proteins
sequence_length
753
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle. Note=Localized in the secretion granules.
uniprot
proteins