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ceramide synthase 3

Summary

Gene Symbol

CERS3

Aliases

MGC27091

Organism

Homo sapiens (human)

External Links

NCBI Gene

204219

HGNC

23752

KEGG Gene ID

hsa:204219

PubChem

204219

Alliance of Genome Resources

HGNC:23752

JoGo

CERS3

TogoVar

CERS3

Annotation

Keyword

Endoplasmic reticulum
Ichthyosis
Lipid biosynthesis
Phosphoprotein
Proteomics identification
Reference proteome
Transferase
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q8IU89	Dihydroceramide synthase 3 LAG1 longevity assurance homolog 3 Sphingosine N-acyltransferase CERS3 Ultra-long-chain ceramide synthase CERS3 Very-long-chain ceramide synthase CERS3

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
sphingolipid metabolic process	IEA
epidermis development	ISS
epidermis development	IEA
sphingolipid biosynthetic process	TAS
keratinocyte differentiation	IMP

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

sphingolipid metabolic process

ceramide metabolic process [inference]

ceramide biosynthetic process

sphingolipid biosynthetic process

ceramide biosynthetic process

lipid biosynthetic process [inference]

sphingolipid biosynthetic process

ceramide biosynthetic process

cell death [inference]

programmed cell death [inference]

cornification

cellular developmental process [inference]

cell differentiation [inference]

epithelial cell differentiation [inference]

epidermal cell differentiation [inference]

keratinocyte differentiation

developmental process [inference]

anatomical structure development [inference]

tissue development [inference]

epidermis development

cellular developmental process [inference]

cell differentiation [inference]

epithelial cell differentiation [inference]

epidermal cell differentiation [inference]

keratinocyte differentiation

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GO Term	Evidence Code	PMID
nucleoplasm	IDA
endoplasmic reticulum	ISS
endoplasmic reticulum	IBA
endoplasmic reticulum	IEA
endoplasmic reticulum membrane	ISS

GO Hierarchy

cellular component

cellular anatomical structure [inference]

nucleoplasm

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

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GO Term	Evidence Code	PMID
DNA binding	IEA
protein binding	IPI
sphingosine N-acyltransferase activity	ISS
sphingosine N-acyltransferase activity	TAS
sphingosine N-acyltransferase activity	IDA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

acyltransferase activity [inference]

acyltransferase activity, transferring groups other than amino-acyl groups [inference]

N-acyltransferase activity [inference]

sphingosine N-acyltransferase activity

binding [inference]

nucleic acid binding [inference]

DNA binding

protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000154227

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K24622

Name

very-long-chain ceramide synthase / ultra-long-chain ceramide synthase [EC:2.3.1.297 2.3.1.298]

References

16753040

Rhea

RHEA:61480

a very long-chain fatty acyl-CoA + a sphingoid base

an N-(very-long-chain fatty acyl)-sphingoid base + H⁺ + CoA

Enzyme

2.3.1.297

PMID

RHEA:61492

an ultra-long-chain fatty acyl-CoA + a sphingoid base

an N-(ultra-long-chain-acyl)-sphingoid base + H⁺ + CoA

Enzyme

2.3.1.298

PMID

RHEA:23768

sphing-4-enine + a fatty acyl-CoA

H⁺ + an N-acylsphing-4-enine + CoA

Enzyme

2.3.1.24

PMID

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0060718	autosomal recessive congenital ichthyosis 9	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000365	Hearing impairment
HP:0000491	Keratitis
HP:0000656	Ectropion
HP:0000962	Hyperkeratosis
HP:0000966	Hypohidrosis
HP:0000982	Palmoplantar keratoderma
HP:0000989	Pruritus
HP:0001019	Erythroderma
HP:0001508	Failure to thrive