CAPNS1
entrez
826
canonical
uniprot
P04632
canonical
ensembl
ENSG00000126247
resolver
ensp
ENSP00000246533
resolver
ensp
ENSP00000464849
resolver
ensp
ENSP00000464903
resolver
ensp
ENSP00000468041
resolver
ensp
ENSP00000526097
resolver
ensp
ENSP00000610735
resolver
ensp
ENSP00000610736
resolver
ensp
ENSP00000629992
resolver
ensp
ENSP00000629993
resolver
enst
ENST00000246533
resolver
enst
ENST00000587718
resolver
enst
ENST00000588815
resolver
enst
ENST00000856038
resolver
enst
ENST00000940676
resolver
enst
ENST00000940677
resolver
enst
ENST00000959933
resolver
enst
ENST00000959934
resolver
genesymbol
CAPNS1
resolver
genesymbol_syn
CAPN4
resolver
genesymbol_syn
CAPNS
resolver
hgnc
HGNC:1481
resolver
uniprot
A0A0C4DGQ5
resolver
uniprot
A0A384N6G2
resolver
uniprot
A8K0P1
resolver
uniprot
Q8WTX3
resolver
uniprot
Q96EW0
resolver
uniprot_entry
A0A0C4DGQ5_HUMAN
resolver
uniprot_entry
A0A384N6G2_HUMAN
resolver
uniprot_entry
CPNS1_HUMAN
resolver
uniprot_sec
A8K0P1
resolver
uniprot_sec
Q8WTX3
resolver
uniprot_sec
Q96EW0
resolver
amino_acid_sequence
MFLVNSFLKGGGGGGGGGGGLGGGLGNVLGGLISGAGGGGGGGGGGGGGGGGGGGGTAMRILGGVISAISEAAAQYNPEPPPPRTHYSNIEANESEEVRQFRRLFAQLAGDDMEVSATELMNILNKVVTRHPDLKTDGFGIDTCRSMVAVMDSDTTGKLGFEEFKYLWNNIKRWQAIYKQFDTDRSGTICSSELPGAFEAAGFHLNEHLYNMIIRRYSDESGNMDFDNFISCLVRLDAMFRAFKSLDKDGTGQIQVNIQEWLQLTMYS
uniprot
proteins
disease_involvement
DISEASE: Pulmonary hypertension, primary, 6 (PPH6) [MIM:620777]: A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH6 is an autosomal recessive form. {ECO:0000269|PubMed:38230350}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Essential for embryonic development (By similarity). {ECO:0000250|UniProtKB:O88456}.
uniprot
proteins
mass_dalton
28316
uniprot
proteins
pubmed
10639123
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3016651
uniprot
proteins
pubmed
3024120
uniprot
proteins
pubmed
38230350
uniprot
proteins
sequence_length
268
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Translocates to the plasma membrane upon calcium binding. {ECO:0000250}.
uniprot
proteins