ENSMUSG00000022973


Mus musculus

Features
Gene ID: ENSMUSG00000022973
  
Biological name :Synj1
  
Synonyms : synaptojanin 1 / Synj1
  
Possible biological names infered from orthology : O43426
  
Species: Mus musculus
  
Chr. number: 16
Strand: -1
Band: C3.3
Gene start: 90936092
Gene end: 91011308
  
Corresponding Affymetrix probe sets: 10440849 (MoGene1.0st)   1436333_a_at (Mouse Genome 430 2.0 Array)   1436334_at (Mouse Genome 430 2.0 Array)   1439672_at (Mouse Genome 430 2.0 Array)   1439997_at (Mouse Genome 430 2.0 Array)   1454961_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000122675
Ensembl peptide - ENSMUSP00000120399
Ensembl peptide - ENSMUSP00000123231
Ensembl peptide - ENSMUSP00000128997
Ensembl peptide - ENSMUSP00000113308
Ensembl peptide - ENSMUSP00000113518
Ensembl peptide - ENSMUSP00000119712
NCBI entrez gene - 104015     See in Manteia.
MGI - MGI:1354961
RefSeq - XM_017316841
RefSeq - XM_011246085
RefSeq - XM_011246087
RefSeq - XM_011246088
RefSeq - XM_011246089
RefSeq - XM_017316836
RefSeq - XM_017316837
RefSeq - XM_017316838
RefSeq - XM_017316839
RefSeq - XM_017316840
RefSeq - NM_001045515
RefSeq - NM_001164483
RefSeq - XM_006522837
RefSeq - XM_011246075
RefSeq - XM_011246076
RefSeq - XM_011246077
RefSeq - XM_011246078
RefSeq - XM_011246079
RefSeq - XM_011246080
RefSeq - XM_011246081
RefSeq - XM_011246082
RefSeq - XM_011246083
RefSeq - XM_011246084
RefSeq Peptide - NP_001157955
RefSeq Peptide - NP_001038980
swissprot - F6XIX0
swissprot - F7BQW7
swissprot - E9Q7S0
swissprot - D3Z656
swissprot - D3Z1M7
swissprot - F7CD11
swissprot - F6VSS8
Ensembl - ENSMUSG00000022973
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 synj1ENSDARG00000025011Danio rerio
 SYNJ1ENSGALG00000034317Gallus gallus
 SYNJ1ENSG00000159082Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Synj2 / Q9D2G5 / Synaptojanin-2 / O15056*ENSMUSG0000002380541
Inpp5b / Q8K337 / Type II inositol 1,4,5-trisphosphate 5-phosphatase / P32019* / inositol polyphosphate-5-phosphatase B*ENSMUSG0000002889414
Inpp5j / P59644 / Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A / Q15735* / inositol polyphosphate-5-phosphatase J*ENSMUSG0000003457013
Ocrl / Q6NVF0 / Inositol polyphosphate 5-phosphatase OCRL-1 / Q01968* / OCRL, inositol polyphosphate-5-phosphatase*ENSMUSG0000000117313
Inpp5d / Q9ES52 / Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 / Q92835* / inositol polyphosphate-5-phosphatase D*ENSMUSG0000002628813
Inppl1 / Q6P549 / Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 / O15357* / inositol polyphosphate phosphatase like 1*ENSMUSG0000003273712
Inpp5e / Q9JII1 / 72 kDa inositol polyphosphate 5-phosphatase / Q9NRR6* / inositol polyphosphate-5-phosphatase E*ENSMUSG000000269259
Inpp5k / Q8C5L6 / inositol polyphosphate 5-phosphatase K / Q9BT40*ENSMUSG000000061277


Protein motifs (from Interpro)
Interpro ID Name
 IPR000300  Inositol polyphosphate-related phosphatase
 IPR000504  RNA recognition motif domain
 IPR002013  SAC domain
 IPR005135  Endonuclease/exonuclease/phosphatase
 IPR015047  Domain of unknown function DUF1866
 IPR034971  Synaptojanin-1, RNA recognition motif
 IPR034972  Synaptojanin-1
 IPR035979  RNA-binding domain superfamily
 IPR036691  Endonuclease/exonuclease/phosphatase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007420 brain development IEA
 biological_processGO:0014015 positive regulation of gliogenesis IEA
 biological_processGO:0032526 response to retinoic acid IEA
 biological_processGO:0034097 response to cytokine IEA
 biological_processGO:0046856 phosphatidylinositol dephosphorylation IEA
 biological_processGO:0048260 positive regulation of receptor-mediated endocytosis IEA
 biological_processGO:0048488 synaptic vesicle endocytosis IEA
 cellular_componentGO:0005623 cell IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0030132 clathrin coat of coated pit IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0097060 synaptic membrane IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0017124 SH3 domain binding IEA
 molecular_functionGO:0034595 phosphatidylinositol phosphate 5-phosphatase activity IEA
 molecular_functionGO:0042578 phosphoric ester hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Synthesis of PIPs at the plasma membrane
Synthesis of IP2, IP, and Ins in the cytosol
Synthesis of IP3 and IP4 in the cytosol
Clathrin-mediated endocytosis


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]
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Allelic Composition: Spns2tm1b(KOMP)Wtsi/Spns2tm1b(KOMP)Wtsi
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd-Spns2tm1b(KOMP)Wtsi/WtsiH

 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000947 convulsive seizures "seizures characterized by uncontrolled motor activity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001289 persistence of hyaloid capillary system "failure of the degeneration of the transient vascular system of the eye during development" [J:49840]
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Allelic Composition: Spns2tm1b(KOMP)Wtsi/Spns2tm1b(KOMP)Wtsi
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd-Spns2tm1b(KOMP)Wtsi/WtsiH

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002916 increased synaptic depression "increase in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Cacna1dtm1Jst/Cacna1dtm1Jst
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Spns2tm1b(KOMP)Wtsi/Spns2tm1b(KOMP)Wtsi
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd-Spns2tm1b(KOMP)Wtsi/WtsiH

  


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






 

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