CERS3
entrez
204219
canonical
uniprot
Q8IU89
canonical
ensembl
ENSG00000154227
resolver
ensp
ENSP00000284382
resolver
ensp
ENSP00000377672
resolver
ensp
ENSP00000437640
resolver
ensp
ENSP00000506641
resolver
enst
ENST00000284382
resolver
enst
ENST00000394113
resolver
enst
ENST00000538112
resolver
enst
ENST00000679737
resolver
genesymbol
CERS3
resolver
genesymbol_syn
LASS3
resolver
hgnc
HGNC:23752
resolver
uniprot
Q8NE64
resolver
uniprot
Q8NEN6
resolver
uniprot_entry
CERS3_HUMAN
resolver
uniprot_sec
Q8NE64
resolver
uniprot_sec
Q8NEN6
resolver
amino_acid_sequence
MFWTFKEWFWLERFWLPPTIKWSDLEDHDGLVFVKPSHLYVTIPYAFLLLIIRRVFEKFVASPLAKSFGIKETVRKVTPNTVLENFFKHSTRQPLQTDIYGLAKKCNLTERQVERWFRSRRNQERPSRLKKFQEACWRFAFYLMITVAGIAFLYDKPWLYDLWEVWNGYPKQPLLPSQYWYYILEMSFYWSLLFRLGFDVKRKDFLAHIIHHLAAISLMSFSWCANYIRSGTLVMIVHDVADIWLESAKMFSYAGWTQTCNTLFFIFSTIFFISRLIVFPFWILYCTLILPMYHLEPFFSYIFLNLQLMILQVLHLYWGYYILKMLNRCIFMKSIQDVRSDDEDYEEEEEEEEEEATKGKEMDCLKNGLRAERHLIPNGQHGH
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:23754960}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.24
uniprot
proteins
ec_number
2.3.1.297
uniprot
proteins
ec_number
2.3.1.298
uniprot
proteins
function
FUNCTION: Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very- and ultra-long-chain fatty acyl-CoA (chain length greater than C22) (PubMed:17977534, PubMed:22038835, PubMed:26887952). N-acylates sphinganine and sphingosine bases to form dihydroceramides and ceramides in de novo synthesis and salvage pathways, respectively (PubMed:17977534, PubMed:22038835, PubMed:26887952). It is crucial for the synthesis of ultra-long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation (PubMed:23754960). {ECO:0000269|PubMed:17977534, ECO:0000269|PubMed:22038835, ECO:0000269|PubMed:23754960, ECO:0000269|PubMed:26887952}.
uniprot
proteins
mass_dalton
46316
uniprot
proteins
mutagenesis
MUTAGEN 340; /note="S->A: Decreased phosphorylation."; /evidence="ECO:0000269|PubMed:26887952
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; sphingolipid metabolism. {ECO:0000269|PubMed:17977534, ECO:0000269|PubMed:22038835, ECO:0000269|PubMed:26887952}.
uniprot
proteins
protein_family
Sphingosine N-acyltransferase family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17977534
uniprot
proteins
pubmed
22038835
uniprot
proteins
pubmed
23754960
uniprot
proteins
pubmed
26887952
uniprot
proteins
sequence_length
383
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q1A3B0}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 32..52; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 139..159; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 174..194; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 205..225; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 264..284; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 298..318; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins