ENSMUSG00000087408


Mus musculus

Features
Gene ID: ENSMUSG00000087408
  
Biological name :Cers1
  
Synonyms : Ceramide synthase 1 / Cers1 / P20863 / P27545
  
Possible biological names infered from orthology : GDF1 / growth differentiation factor 1 / P27539 / P27544
  
Species: Mus musculus
  
Chr. number: 8
Strand: 1
Band: B3.3
Gene start: 70315775
Gene end: 70331592
  
Corresponding Affymetrix probe sets: 10572368 (MoGene1.0st)   1416900_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000120598
Ensembl peptide - ENSMUSP00000128325
NCBI entrez gene - 93898     See in Manteia.
NCBI entrez gene - 14559     See in Manteia.
MGI - MGI:2136690
RefSeq - NM_001163282
RefSeq - NM_138647
RefSeq Peptide - NP_001156754
RefSeq Peptide - NP_619588
swissprot - P27545
swissprot - P20863
swissprot - A2RT05
Ensembl - ENSMUSG00000087408
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gdf3ENSDARG00000037995Danio rerio
 GDF3ENSGALG00000003161Gallus gallus
 CERS1ENSG00000223802Homo sapiens
 GDF1ENSG00000130283Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Gdf1 / P20863 / Embryonic growth/differentiation factor 1 / CERS1* / P27544* / P27539* / ceramide synthase 1* / growth differentiation factor 1*ENSMUSG00000109523100
Gdf3 / Q07104 / Growth/differentiation factor 3 / Q9NR23*ENSMUSG0000003011734
Gdf10 / P97737 / Growth/differentiation factor 10 / P55107*ENSMUSG0000002194323
Nodal / P43021 / Q96S42* / nodal growth differentiation factor*ENSMUSG0000003717120
Inhbc / P55104 / Inhibin beta C chain / P55103* / inhibin beta C subunit*ENSMUSG0000002540520
Inhbb / Q04999 / Inhibin beta B chain / P09529* / inhibin beta B subunit*ENSMUSG0000003703519
Inhbe / O08717 / Inhibin beta E chain / P58166* / inhibin beta E subunit*ENSMUSG0000004749219
Tgfb3 / transforming growth factor, beta 3 / P10600*ENSMUSG0000002125319
Tgfb1 / P04202 / transforming growth factor, beta 1 / P01137*ENSMUSG0000000260318
Bmp15 / Q9Z0L4 / Bone morphotic protein 15 / O95972* / bone morphogenetic protein 15*ENSMUSG0000002327918
Gdf15 / Q9Z0J7 / Mus musculus growth differentiation factor 15 (Gdf15), transcript variant 2, mRNA. / Q99988* / growth differentiation factor 15*ENSMUSG0000003850818
Bmp3 / Q8BHE5 / Bone morphotic protein 3 / P12645* / bone morphogenetic protein 3*ENSMUSG0000002933518
Inhba / Q04998 / Inhibin beta A chain / P08476* / inhibin beta A subunit*ENSMUSG0000004132418
Gdf11 / Q9Z1W4 / Growth/differentiation factor 11 / O95390*ENSMUSG0000002535217
Tgfb2 / P27090 / Transforming growth factor beta-2 Latency-associated peptide / P61812* / transforming growth factor beta 2*ENSMUSG0000003923917
Mstn / O08689 / myostatin / O14793*ENSMUSG0000002610016
Gdf9 / Q07105 / Growth/differentiation factor 9 / O60383*ENSMUSG0000001823815


Protein motifs (from Interpro)
Interpro ID Name
 IPR001839  Transforming growth factor-beta, C-terminal
 IPR006634  TRAM/LAG1/CLN8 homology domain
 IPR015615  Transforming growth factor-beta-related
 IPR016439  Sphingosine N-acyltransferase Lag1/Lac1-like
 IPR017948  Transforming growth factor beta, conserved site
 IPR029034  Cystine-knot cytokine


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0007165 signal transduction IMP
 biological_processGO:0007420 brain development IMP
 biological_processGO:0007492 endoderm development IGI
 biological_processGO:0007498 mesoderm development IGI
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IBA
 biological_processGO:0030148 sphingolipid biosynthetic process ISO
 biological_processGO:0030509 BMP signaling pathway IBA
 biological_processGO:0035690 cellular response to drug ISO
 biological_processGO:0036146 cellular response to mycotoxin ISO
 biological_processGO:0042981 regulation of apoptotic process IBA
 biological_processGO:0043408 regulation of MAPK cascade IBA
 biological_processGO:0046513 ceramide biosynthetic process IDA
 biological_processGO:0048468 cell development IBA
 biological_processGO:0051974 negative regulation of telomerase activity ISO
 biological_processGO:0060395 SMAD protein signal transduction IBA
 biological_processGO:0071492 cellular response to UV-A ISO
 biological_processGO:0072721 cellular response to dithiothreitol ISO
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005783 endoplasmic reticulum IBA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0005125 cytokine activity IEA
 molecular_functionGO:0005160 transforming growth factor beta receptor binding IBA
 molecular_functionGO:0008083 growth factor activity IEA
 molecular_functionGO:0050291 sphingosine N-acyltransferase activity IDA


Pathways (from Reactome)
Pathway description
Sphingolipid de novo biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: 129X1Bom.129S7-Gnai2tm1Lbi

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
Show

Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: 129X1Bom.129S7-Gnai2tm1Lbi

 MP:0000866 vermis hypoplasia "reduced cell number in the vermis" [J:61509]
Show

Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
Show

Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: 129X1Bom.129S7-Gnai2tm1Lbi

Allelic Composition: Cers1fln/Cers1fln
Genetic Background: NOD.Cg-Cers1fln/Sz

Allelic Composition: Cers1fln/Cers1to
Genetic Background: involves: CB17 * FVB/N * NOD

Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
Show

Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: 129X1Bom.129S7-Gnai2tm1Lbi

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Cop1tm2.1Vmd/Cop1+,Tg(Pbsn-cre)4Prb/0
Genetic Background: B6N.Cg-Cop1tm2.1Vmd Tg(Pbsn-cre)4Prb

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Cop1tm2.1Vmd/Cop1+,Tg(Pbsn-cre)4Prb/0
Genetic Background: B6N.Cg-Cop1tm2.1Vmd Tg(Pbsn-cre)4Prb

 MP:0001362 abnormal anxiety-related response "altered emotional response related to anticipation of a non-specific threat" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, CFG:Center for Functional Genomics, Northwestern University]
Show

Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: 129X1Bom.129S7-Gnai2tm1Lbi

Allelic Composition: Cers1fln/Cers1fln
Genetic Background: NOD.Cg-Cers1fln/Sz

Allelic Composition: Cers1fln/Cers1to
Genetic Background: involves: CB17 * FVB/N * NOD

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
Show

Allelic Composition: Cers1fln/Cers1fln
Genetic Background: NOD.Cg-Cers1fln/Sz

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
Show

Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: 129X1Bom.129S7-Gnai2tm1Lbi

 MP:0001547 abnormal lipid level "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cop1tm2.1Vmd/Cop1+,Tg(Pbsn-cre)4Prb/0
Genetic Background: B6N.Cg-Cop1tm2.1Vmd Tg(Pbsn-cre)4Prb

Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: 129X1Bom.129S7-Gnai2tm1Lbi

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: 129X1Bom.129S7-Gnai2tm1Lbi

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cop1tm2.1Vmd/Cop1+,Tg(Pbsn-cre)4Prb/0
Genetic Background: B6N.Cg-Cop1tm2.1Vmd Tg(Pbsn-cre)4Prb

Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002175 low brain weight "lower than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: 129X1Bom.129S7-Gnai2tm1Lbi

 MP:0002183 gliosis "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: 129X1Bom.129S7-Gnai2tm1Lbi

 MP:0002804 abnormal motor learning "defects in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003224 neuron degeneration "a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cers1fln/Cers1fln
Genetic Background: NOD.Cg-Cers1fln/Sz

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003461 abnormal response to novel object "altered investigative behavior from controls in reactions associated with exposing an animal to a novel object" [CFG:Center for Functional Genomics, Northwestern University]
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Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008428 abnormal spatial working memory "anomaly in the ability to spontaneously process spatial location information in order to naviagate or perform other behavior using such locational cues, without previous encounters or training at that location" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008572 abnormal Purkinje cell dendrite morphology "any strucutral anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: 129X1Bom.129S7-Gnai2tm1Lbi

Allelic Composition: Cers1fln/Cers1fln
Genetic Background: NOD.Cg-Cers1fln/Sz

Allelic Composition: Cers1to/Cers1to
Genetic Background: FVB/N-Cers1to

 MP:0008842 lipofuscinosis "storage in organs of brownish fatty pigment resulting from the breakdown and absorption of damaged blood cells" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Cers1fln/Cers1fln
Genetic Background: NOD.Cg-Cers1fln/Sz

Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009719 reduced cerebellar foliation "the cerebellar lobules are reduced in size or number" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0014185 cerebellum atrophy "acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:Anna]
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Allelic Composition: Cers1tm1.1Kwi/Cers1tm1.1Kwi
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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