LIPID MAPS

LMPD ID

LMP012383

Gene ID

204219

Species

Homo sapiens (Human)

Gene Name

ceramide synthase 3

Gene Symbol

CERS3

Synonyms

ARCI9; LASS3;

Chromosome

15

Map Location

15q26.3

EC Number

2.3.1.24

ceramide synthase 3 isoform 1
Refseq ID	NP_001277270
Protein GI	594140617
UniProt ID	Q8IU89
mRNA ID	NM_001290341
Length	394
MLHTTARRAARMFWTFKEWFWLERFWLPPTIKWSDLEDHDGLVFVKPSHLYVTIPYAFLLLIIRRVFEKFVASPLAKSFGIKETVRKVTPNTVLENFFKHSTRQPLQTDIYGLAKKCNLTERQVERWFRSRRNQERPSRLKKFQEACWRFAFYLMITVAGIAFLYDKPWLYDLWEVWNGYPKQPLLPSQYWYYILEMSFYWSLLFRLGFDVKRKDFLAHIIHHLAAISLMSFSWCANYIRSGTLVMIVHDVADIWLESAKMFSYAGWTQTCNTLFFIFSTIFFISRLIVFPFWILYCTLILPMYHLEPFFSYIFLNLQLMILQVLHLYWGYYILKMLNRCIFMKSIQDVRSDDEDYEEEEEEEEEEATKGKEMDCLKNGLRAERHLIPNGQHGH

ceramide synthase 3 isoform 2
Refseq ID	NP_849164
Protein GI	116235446
UniProt ID	Q8IU89
mRNA ID	NM_178842
Length	383
MFWTFKEWFWLERFWLPPTIKWSDLEDHDGLVFVKPSHLYVTIPYAFLLLIIRRVFEKFVASPLAKSFGIKETVRKVTPNTVLENFFKHSTRQPLQTDIYGLAKKCNLTERQVERWFRSRRNQERPSRLKKFQEACWRFAFYLMITVAGIAFLYDKPWLYDLWEVWNGYPKQPLLPSQYWYYILEMSFYWSLLFRLGFDVKRKDFLAHIIHHLAAISLMSFSWCANYIRSGTLVMIVHDVADIWLESAKMFSYAGWTQTCNTLFFIFSTIFFISRLIVFPFWILYCTLILPMYHLEPFFSYIFLNLQLMILQVLHLYWGYYILKMLNRCIFMKSIQDVRSDDEDYEEEEEEEEEEATKGKEMDCLKNGLRAERHLIPNGQHGH

ceramide synthase 3 isoform 2
Refseq ID	NP_001277272
Protein GI	594140662
UniProt ID	Q8IU89
mRNA ID	NM_001290343
Length	383
Protein sequence is identical to GI:116235446 (mRNA isoform)

ceramide synthase 3 isoform 2
Refseq ID	NP_001277271
Protein GI	594140636
UniProt ID	Q8IU89
mRNA ID	NM_001290342
Length	383
Protein sequence is identical to GI:116235446 (mRNA isoform)

Entrez Gene ID

204219

Gene Name

ceramide synthase 3

Gene Symbol

CERS3

Species

Homo sapiens

Gene Ontology (GO Annotations)

GO ID	Source	Type	Description
GO:0005789	TAS:Reactome	C	endoplasmic reticulum membrane
GO:0016021	IEA:UniProtKB-KW	C	integral component of membrane
GO:0005634	IEA:UniProtKB-KW	C	nucleus
GO:0003677	IEA:UniProtKB-KW	F	DNA binding
GO:0050291	IEA:UniProtKB-EC	F	sphingosine N-acyltransferase activity
GO:0046513	IMP:UniProtKB	P	ceramide biosynthetic process
GO:0030216	IMP:UniProtKB	P	keratinocyte differentiation
GO:0044281	TAS:Reactome	P	small molecule metabolic process
GO:0030148	TAS:Reactome	P	sphingolipid biosynthetic process
GO:0006665	TAS:Reactome	P	sphingolipid metabolic process

KEGG Pathway Links

KEGG Pathway ID	Description
M00094	Ceramide biosynthesis
hsa01100	Metabolic pathways
hsa00600	Sphingolipid metabolism
ko00600	Sphingolipid metabolism
M00099	Sphingosine biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID	Description
REACT_111217	Metabolism
REACT_22258	Metabolism of lipids and lipoproteins
REACT_115810	Sphingolipid de novo biosynthesis
REACT_19323	Sphingolipid metabolism

InterPro Annotations

Accession	Description
IPR001356	Homeobox domain
IPR009057	Homeodomain-like
IPR016439	Longevity assurance, LAG1/LAC1
IPR006634	TRAM/LAG1/CLN8 homology domain

Entry Information

Gene Name

ceramide synthase 3

Protein Entry

CERS3_HUMAN

UniProt ID

Q8IU89

Species

Human

Comments

Comment Type	Description
Catalytic Activity	Acyl-CoA + dihydrosphingosine = CoA + N- acyldihydrosphingosine.
Catalytic Activity	Acyl-CoA + sphingosine = CoA + N- acylsphingosine.
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 Note=The disease is caused by mutations affecting the gene represented in this entry.
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
Similarity	Contains 1 TLC (TRAM/LAG1/CLN8) domain
Similarity	Contains 1 homeobox DNA-binding domain
Subcellular Location	Nucleus membrane {ECO:0000255\|PROSITE- ProRule:PRU00108}; Multi-pass membrane protein
Tissue Specificity	Expressed in the epidermis, where it localizes at the interface between the stratum granulosum and the stratum corneum (at protein level)