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MGP006762

UniProt Annotations

Entry Information
Gene Nameceramide synthase 3
Protein EntryCERS3_HUMAN
UniProt IDQ8IU89
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityAcyl-CoA + dihydrosphingosine = CoA + N- acyldihydrosphingosine.
Catalytic ActivityAcyl-CoA + sphingosine = CoA + N- acylsphingosine.
DiseaseIchthyosis, congenital, autosomal recessive 9 (ARCI9) [MIM:615023]: 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:23754960}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionHas (dihydro)ceramide synthesis activity with relatively broad substrate specificity, but a preference for C18:0 and other middle- to long-chain fatty acyl-CoAs (By similarity). It is crucial for the synthesis of very long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation. {ECO:0000250, ECO:0000269|PubMed:23754960}.
SimilarityContains 1 homeobox DNA-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00108}.
SimilarityContains 1 TLC (TRAM/LAG1/CLN8) domain. {ECO:0000255|PROSITE-ProRule:PRU00205}.
Subcellular LocationNucleus membrane {ECO:0000255|PROSITE- ProRule:PRU00108}; Multi-pass membrane protein {ECO:0000305}.
Tissue SpecificityExpressed in the epidermis, where it localizes at the interface between the stratum granulosum and the stratum corneum (at protein level). {ECO:0000269|PubMed:23754960}.
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