InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CERS3

Summary

InnateDB Protein

IDBP-588217.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CERS3

Protein Name

ceramide synthase 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000437640

InnateDB Gene

IDBG-32008 (CERS3)

Protein Structure

UniProt Annotation

Function

Has (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:0000269PubMed:23754960}.

Subcellular Localization

Nucleus membrane {ECO:0000255PROSITE- ProRule:PRU00108}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Ichthyosis, 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:0000269PubMed:23754960}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the epidermis, where it localizes at the interface between the stratum granulosum and the stratum corneum (at protein level). {ECO:0000269PubMed:23754960}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	0
Protein-DNA	0
Protein-RNA	0
DNA-DNA	3 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0043565	sequence-specific DNA binding
GO:0050291	sphingosine N-acyltransferase activity

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0006665	sphingolipid metabolic process
GO:0030148	sphingolipid biosynthetic process
GO:0030216	keratinocyte differentiation
GO:0044281	small molecule metabolic process
GO:0046513	ceramide biosynthetic process