Entity Details

Primary name CASPE_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP31944
EntryNameCASPE_HUMAN
FullNameCaspase-14
TaxID9606
Evidenceevidence at protein level
Length242
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesCASP14

GO terms

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GOName
GO:0004197 cysteine-type endopeptidase activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0008544 epidermis development
GO:0031424 keratinization
GO:0045095 keratin filament
GO:0070268 cornification
GO:0097200 cysteine-type endopeptidase activity involved in execution phase of apoptosis

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR001309 Peptidase C14, p20 domainDomainDomain
IPR002138 Peptidase C14, caspase non-catalytic subunit p10DomainDomain
IPR002398 Peptidase C14 familyFamilyFamily
IPR015917 Peptidase C14A, caspase catalytic domainDomainDomain
IPR029030 Caspase-like domain superfamilyFamilyHomologous superfamily
IPR033139 Peptidase family C14A, cysteine active siteSiteActive site
IPR033174 Caspase-14FamilyFamily

Diseases

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Disease IDSourceNameDescription
617320 OMIMIchthyosis, congenital, autosomal recessive 12 (ARCI12)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. The disease is caused by variants affecting the gene represented in this entry.