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Cers1 Gene Detail
Summary
  • Symbol
    Cers1
  • Name
    ceramide synthase 1
  • Synonyms
    CerS1, Lass1, to, Uog-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2136690
    NCBI Gene: 93898
  • Gene Overview
    MyGene.info: CERS1
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:70315775-70331588 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 34.15 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    100 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2136690
protein coding gene Chr8:70315775-70331592 (.)
129S1/SvImJ MGP_129S1SvImJ_G0033701
protein coding gene Chr8:70579275-70595269 (+)
A/J MGP_AJ_G0033684
protein coding gene Chr8:67709771-67725646 (+)
AKR/J MGP_AKRJ_G0033609
protein coding gene Chr8:69637815-69653814 (+)
BALB/cJ MGP_BALBcJ_G0033680
protein coding gene Chr8:67930803-67946759 (+)
C3H/HeJ MGP_C3HHeJ_G0033390
protein coding gene Chr8:70282043-70298175 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034197
protein coding gene Chr8:73250815-73266670 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031141
protein coding gene Chr8:62524307-62541283 (+)
CAST/EiJ MGP_CASTEiJ_G0032715
protein coding gene Chr8:69764320-69781760 (+)
CBA/J MGP_CBAJ_G0033368
protein coding gene Chr8:75874040-75893400 (+)
DBA/2J MGP_DBA2J_G0033522
protein coding gene Chr8:67430617-67446838 (+)
FVB/NJ MGP_FVBNJ_G0033463
protein coding gene Chr8:66539141-66555797 (+)
LP/J MGP_LPJ_G0033609
protein coding gene Chr8:70604795-70622185 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033506
protein coding gene Chr8:78545785-78562730 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034215
protein coding gene Chr8:69822235-69838227 (+)
PWK/PhJ MGP_PWKPhJ_G0032423
protein coding gene Chr8:66725180-66741234 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032259
protein coding gene Chr8:68789678-68805900 (+)
WSB/EiJ MGP_WSBEiJ_G0032830
protein coding gene Chr8:70181370-70197326 (+)



Homology
more
  • Human Ortholog
    CERS1, ceramide synthase 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    CERS1, ceramide synthase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EPM8, GDF1, GDF-1, LAG1, LASS1, UOG1
  • Links
    NCBI Gene ID: 10715
    neXtProt AC: NX_P27544
    UniProt: P27544

  • Chr Location
    19p13.11; chr19:18868546-18896727 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 3 alleles in 5 genetic backgrounds
    2 images
    9 phenotype references
Phenotype Overview

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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for the spontaneous toppler mutation display reduced body and brain weight, a small cerebellum, progressive tremors, ataxia, impaired balance and seizures, as well as dramatic dendritic changes and severe loss of Purkinje cells, glial changes, and a shortened lifespan.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 93898 NCBI Gene Model | MGI Sequence Detail 15814 C57BL/6J ±  kb
transcript NM_138647 RefSeq | MGI Sequence Detail 2741 C57BL/6  
polypeptide P27545 UniProt | EBI | MGI Sequence Detail 350 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 5
    Genomic 1
    cDNA 4

    Microarray probesets 1
Other
Accession IDs
less
MGI:2653506
References
more
  • Summaries
    All 36
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 9
  • Earliest
    J:10985 Lee SJ, Identification of a novel member (GDF-1) of the transforming growth factor-beta superfamily. Mol Endocrinol. 1990 Jul;4(7):1034-40
  • Latest
    J:232170 Spassieva SD, et al., Ectopic expression of ceramide synthase 2 in neurons suppresses neurodegeneration induced by ceramide synthase 1 deficiency. Proc Natl Acad Sci U S A. 2016 May 24;113(21):5928-33

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/04/2018
MGI 6.13
The Jackson Laboratory