Cers3 ceramide synthase 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cers3provided by MGI
Official Full Name: ceramide synthase 3provided by MGI
Primary source: MGI:MGI:2681008
See related: Ensembl:ENSMUSG00000030510 AllianceGenome:MGI:2681008
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: T3L; Gm488; Lass3; mCerS3; 4930550L11Rik
Summary: Enables sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process and cornification. Acts upstream of or within sphingolipid biosynthetic process. Located in endoplasmic reticulum. Is expressed in epidermis; epidermis granular layer; epidermis spinous layer; face skin; and skin. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 9. Orthologous to human CERS3 (ceramide synthase 3). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in bladder adult (RPKM 14.7), testis adult (RPKM 13.6) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 C; 7 36.15 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (66382864..66473440)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (66733118..66823692)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results suggest that the phosphorylation of ceramide synthases may be a key regulatory point in the control of the distribution and levels of sphingolipids of various acyl-chain lengths.
Title: Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region.
testis-specific SLs, which we also link to CerS3 in human testis, are quintessential for male fertility.
Title: Male meiotic cytokinesis requires ceramide synthase 3-dependent sphingolipids with unique membrane anchors.
Data indicate that oxidized phospholipids (OxPLs)-induced ceramide synthases (CerS1-Cers6) activity in macrophages is responsible for the accumulation of ceramide.
Title: Oxidized phospholipids induce ceramide accumulation in RAW 264.7 macrophages: role of ceramide synthases.
Deficiency of CerS3 in mice results in complete loss of ceramides with ultra-long-chain acyl moities (>/=C26), lack of continuous extracellular lipid lamellae and a non-functional cornified lipid envelope.
Title: Loss of ceramide synthase 3 causes lethal skin barrier disruption.
both glycans and the particular acyl chains of germinal sphingolipids are relevant for proper completion of meiosis
Title: Male germ cells require polyenoic sphingolipids with complex glycosylation for completion of meiosis: a link to ceramide synthase-3.
The isolation and characterization of LASS3 and LASS3-long are reported.
Title: LASS3 (longevity assurance homologue 3) is a mainly testis-specific (dihydro)ceramide synthase with relatively broad substrate specificity.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables sphingosine N-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sphingosine N-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables sphingosine N-acyltransferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ceramide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ceramide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ceramide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in cornification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermis development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in keratinocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sphingolipid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ceramide synthase 3

Names: LAG1 homolog, ceramide synthase 3; LAG1 longevity assurance homolog 3; dihydroceramide synthase 3; longevity assurance homolog 3; related to TRH3; sphingosine N-acyltransferase CERS3; ultra-long-chain ceramide synthase CERS3; very-long-chain ceramide synthase CERS3

NP_001157673.1

EC 2.3.1.24

EC 2.3.1.297

EC 2.3.1.298

XP_006541064.1

EC 2.3.1.24

EC 2.3.1.297

EC 2.3.1.298

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001164201.1 → NP_001157673.1 ceramide synthase 3

Status: VALIDATED

Source sequence(s)

AC120791

Consensus CDS

CCDS52268.1

UniProtKB/Swiss-Prot

E9PVY9, Q195J4, Q1A3B0

Related

ENSMUSP00000069238.9, ENSMUST00000066475.11

Conserved Domains (2) summary

cd00086
Location:107 → 161

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam03798
Location:167 → 360

TRAM_LAG1_CLN8; TLC domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

66382864..66473440

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006541001.5 → XP_006541064.1 ceramide synthase 3 isoform X1

See identical proteins and their annotated locations for XP_006541064.1

UniProtKB/Swiss-Prot

E9PVY9, Q195J4, Q1A3B0

Conserved Domains (2) summary

cd00086
Location:74 → 128

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam03798
Location:134 → 327

TRAM_LAG1_CLN8; TLC domain