CASP14
entrez
23581
canonical
uniprot
P31944
canonical
ensembl
ENSG00000105141
resolver
ensp
ENSP00000393417
resolver
enst
ENST00000427043
resolver
genesymbol
CASP14
resolver
hgnc
HGNC:1502
resolver
uniprot
B2CIS9
resolver
uniprot
O95823
resolver
uniprot
Q3SYC9
resolver
uniprot_entry
B2CIS9_HUMAN
resolver
uniprot_entry
CASPE_HUMAN
resolver
uniprot_sec
O95823
resolver
uniprot_sec
Q3SYC9
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by caspase-1 inhibitor YVAD-FMK and the pan-caspase inhibitor VAD-FMK. {ECO:0000269|PubMed:19960512}.
uniprot
proteins
amino_acid_sequence
MSNPRSLEEEKYDMSGARLALILCVTKAREGSEEDLDALEHMFRQLRFESTMKRDPTAEQFQEELEKFQQAIDSREDPVSCAFVVLMAHGREGFLKGEDGEMVKLENLFEALNNKNCQALRAKPKVYIIQACRGEQRDPGETVGGDEIVMVIKDSPQTIPTYTDALHVYSTVEGYIAYRHDQKGSCFIQTLVDVFTKRKGHILELLTEVTRRMAEAELVQEGKARKTNPEIQSTLRKRLYLQ
uniprot
proteins
disease_involvement
DISEASE: Ichthyosis, congenital, autosomal recessive 12 (ARCI12) [MIM:617320]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269|PubMed:27494380}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.22.-
uniprot
proteins
function
FUNCTION: Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum (PubMed:15556625). Seems to play a role in keratinocyte differentiation and is required for cornification. Regulates maturation of the epidermis by proteolytically processing filaggrin (By similarity). In vitro has a preference for the substrate [WY]-X-X-D motif and is active on the synthetic caspase substrate WEHD-ACF (PubMed:16854378, PubMed:19960512). Involved in processing of prosaposin in the epidermis (By similarity). May be involved in retinal pigment epithelium cell barrier function (PubMed:25121097). Involved in DNA degradation in differentiated keratinocytes probably by cleaving DFFA/ICAD leading to liberation of DFFB/CAD (PubMed:24743736). {ECO:0000250|UniProtKB:O89094, ECO:0000269|PubMed:15301553, ECO:0000269|PubMed:15556625, ECO:0000269|PubMed:16854378, ECO:0000269|PubMed:19960512, ECO:0000269|PubMed:22825846, ECO:0000269|PubMed:24743736, ECO:0000305|PubMed:25121097}.
uniprot
proteins
mass_dalton
27680
uniprot
proteins
post_translational_modification
PTM: Maturation by proteolytic processing appears to be a two-step process. The precursor is processed by KLK7 to yield the p20/p8 intermediate form which acts on the precursor to yield the p17/p10 mature form (PubMed:22825846). Initially, cleavage between Ile-152 and Lys-153 has been proposed to yield the large and small subunits of the active enzyme (PubMed:12200134). {ECO:0000269|PubMed:19960512, ECO:0000269|PubMed:22825846, ECO:0000305|PubMed:12200134}.
uniprot
proteins
protein_family
Peptidase C14A family
uniprot
proteins
pubmed
11062009
uniprot
proteins
pubmed
11175259
uniprot
proteins
pubmed
12181750
uniprot
proteins
pubmed
12200134
uniprot
proteins
pubmed
1286667
uniprot
proteins
pubmed
15301553
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15556625
uniprot
proteins
pubmed
16854378
uniprot
proteins
pubmed
19960512
uniprot
proteins
pubmed
22825846
uniprot
proteins
pubmed
24743736
uniprot
proteins
pubmed
25121097
uniprot
proteins
pubmed
27494380
uniprot
proteins
sequence_length
242
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11175259, ECO:0000269|PubMed:12200134, ECO:0000269|PubMed:22825846}. Nucleus {ECO:0000269|PubMed:11175259}.
uniprot
proteins