Cers3 MGI Mouse Gene Detail - MGI:2681008

Symbol

Cers3
Name

ceramide synthase 3
Synonyms

4930550L11Rik, CerS3, Lass3, LOC233330, related to TRH3, T3L

Feature Type

protein coding gene
IDs

MGI:2681008
NCBI Gene: 545975
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr7:66393252-66473439 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 36.15 cM
Mapping Data

2 experiments

SNPs within 2kb

2074 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2681008	protein coding gene	Chr7:66382864-66473440 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0032355	protein coding gene	Chr7:67977180-68061973 (+)
A/J	MGP_AJ_G0032334	protein coding gene	Chr7:66581182-66662418 (+)
AKR/J	MGP_AKRJ_G0032270	protein coding gene	Chr7:67997372-68082269 (+)
BALB/cJ	MGP_BALBcJ_G0032346	protein coding gene	Chr7:66321569-66402337 (+)
C3H/HeJ	MGP_C3HHeJ_G0032059	protein coding gene	Chr7:68667573-68764886 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032838	protein coding gene	Chr7:70898507-70985079 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029845	protein coding gene	Chr7:69476932-69559479 (+)
CAST/EiJ	MGP_CASTEiJ_G0031387	protein coding gene	Chr7:59355176-59436085 (+)
CBA/J	MGP_CBAJ_G0032025	protein coding gene	Chr7:73109430-73202407 (+)
DBA/2J	MGP_DBA2J_G0032180	protein coding gene	Chr7:65303399-65383057 (+)
FVB/NJ	MGP_FVBNJ_G0032135	protein coding gene	Chr7:65428644-65508507 (+)
LP/J	MGP_LPJ_G0032261	protein coding gene	Chr7:69202089-69286688 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032172	protein coding gene	Chr7:73347452-73433015 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032856	protein coding gene	Chr7:67353123-67437689 (+)
PWK/PhJ	MGP_PWKPhJ_G0031107	protein coding gene	Chr7:58345933-58430521 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0030948	protein coding gene	Chr7:54393258-54482373 (+)
WSB/EiJ	MGP_WSBEiJ_G0031505	protein coding gene	Chr7:67699270-67784778 (+)

Human Ortholog

CERS3, ceramide synthase 3

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CERS3, ceramide synthase 3
Synonyms

ARCI9, LASS3
Links

HGNC:23752

NCBI Gene ID: 204219

neXtProt AC: NX_Q8IU89

UniProt: Q8IU89
Chr Location

15q26.3; chr15:100400395-100544995 (-) GRCh38

MGI Vertebrate Homology

Cers3 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CERS3
Protein SuperFamily

LAG1_LAC1
Gene Tree

Cers3

Diseases

1 with human CERS3 associations

				Human Disease	Mouse Models
				autosomal recessive congenital ichthyosis 9 IDs autosomal recessive congenital ichthyosis 9 DOID:0060718 ICD10CM:Q80.2 OMIM:615023

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

15 phenotypes from 1 allele in 1 genetic background
14 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Cers3
Incidental Mutations

APF
Find Mice (IMSR)

37 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit a lethal skin barrier disruption defect due to a lack of ultra-long-chain acyl ceramides, impaired stratum corneum desquamation, accelerated lamellar body biogenesis and extrusion, and delayed keratinocyte cornification.

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All GO Annotations

13
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

717
Tissues

8
cDNA Data

4
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cers3

ZFIN cers3a, cers3b

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All Sequences

36
RefSeq

5
UniProt

1
CCDS

CCDS52268.1

Ensembl

ENSMUSG00000030510 (Evidence)
NCBI Gene

545975

			Length	Strain/Species	Flank
genomic	ENSMUSG00000030510	Ensembl Gene Model \| MGI Sequence Detail	80188	C57BL/6J	± kb
transcript	ENSMUST00000066475	Ensembl \| MGI Sequence Detail	3250	Not Applicable
polypeptide	ENSMUSP00000069238	Ensembl \| MGI Sequence Detail	419	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000009679 ceramide synthase 3

(term hierarchy)
EC

2.3.1.24, 2.3.1.297, 2.3.1.298
InterPro Domains

IPR001356 Homeobox domain

IPR009057 Homeobox-like domain superfamily

IPR016439 Sphingosine N-acyltransferase Lag1/Lac1-like

IPR006634 TRAM/LAG1/CLN8 homology domain

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All nucleic 11

cDNA 5

Primer pair 5

Other 1

Microarray probesets 3

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MGI:1922052, MGI:2685334

Summaries

All 50

Developmental Gene Expression 9

Gene Ontology 6

Phenotypes 14
Earliest

J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
Latest

J:346053 Zhang J, et al., Regulation of meiotic telomere dynamics through membrane fluidity promoted by AdipoR2-ELOVL2. Nat Commun. 2024 Mar 14;15(1):2315

TSS for Cers3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr67069	Chr7:66393363-66393372 (+)	116 bp
Tssr67070	Chr7:66393384-66393394 (+)	137 bp
Tssr67071	Chr7:66393396-66393422 (+)	157 bp
Tssr67072	Chr7:66393435-66393454 (+)	193 bp
Tssr67073	Chr7:66393465-66393472 (+)	217 bp
Tssr67074	Chr7:66471950-66471954 (+)	78,700 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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