ENSMUSG00000003200


Mus musculus

Features
Gene ID: ENSMUSG00000003200
  
Biological name :Sh3gl1
  
Synonyms : Q62419 / SH3-domain GRB2-like 1 / Sh3gl1
  
Possible biological names infered from orthology : Q99961 / SH3 domain containing GRB2 like 1, endophilin A2
  
Species: Mus musculus
  
Chr. number: 17
Strand: -1
Band: D
Gene start: 56016753
Gene end: 56036637
  
Corresponding Affymetrix probe sets: 10451907 (MoGene1.0st)   1416338_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000003268
NCBI entrez gene - 20405     See in Manteia.
MGI - MGI:700010
RefSeq - XM_011246333
RefSeq - NM_001252471
RefSeq - NM_013664
RefSeq Peptide - NP_038692
RefSeq Peptide - NP_001239400
swissprot - Q3TRJ7
swissprot - Q62419
Ensembl - ENSMUSG00000003200
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sh3gl1aENSDARG00000067958Danio rerio
 sh3gl1bENSDARG00000002642Danio rerio
 Q8AXV0ENSGALG00000001121Gallus gallus
 Q99961ENSG00000141985Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q62420 / Sh3gl2 / SH3-domain GRB2-like 2 / Q99962* / SH3 domain containing GRB2 like 2, endophilin A1*ENSMUSG0000002848870
Sh3gl3 / endophilin-A3 isoform 3 / Q99963* / SH3 domain containing GRB2 like 3, endophilin A3*ENSMUSG0000003063865
Q8R3V5 / Sh3glb2 / SH3-domain GRB2-like endophilin B2 / Q9NR46* / SH3 domain containing GRB2 like, endophilin B2*ENSMUSG0000002686025
Q9JK48 / Sh3glb1 / Endophilin-B1 / Q9Y371* / SH3 domain containing GRB2 like, endophilin B1*ENSMUSG0000003706225


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR004148  BAR domain
 IPR027267  AH/BAR domain superfamily
 IPR028501  Endophilin-A
 IPR035824  Endophilin-A, SH3 domain
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0016191 synaptic vesicle uncoating IMP
 biological_processGO:0098815 modulation of excitatory postsynaptic potential IEA
 biological_processGO:1900242 regulation of synaptic vesicle endocytosis IEA
 cellular_componentGO:0002102 podosome IEA
 cellular_componentGO:0005737 cytoplasm ISO
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0017124 SH3 domain binding IEA
 molecular_functionGO:0019902 phosphatase binding IEA
 molecular_functionGO:0031697 beta-1 adrenergic receptor binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0044325 ion channel binding IEA
 molecular_functionGO:0045296 cadherin binding IEA
 molecular_functionGO:0051020 GTPase binding IEA


Pathways (from Reactome)
Pathway description
EGFR downregulation
Negative regulation of MET activity
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * 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: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

Allelic Composition: Sh3gl1tm1Pdc/Sh3gl1tm1Pdc,Sh3gl2tm1Pdc/Sh3gl2+,Sh3gl3tm1.2Itl/Sh3gl3tm1.2Itl
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BL/6J * FVB/N * SJL

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0002761 abnormal hippocampal mossy fiber morphology "absence or misprojection of axons of neuronal cells in the dentate gyrus" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:4978]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * 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: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0004753 abnormal miniature excitatory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0004770 abnormal synaptic vesicle recycling "any functional anomaly in the process of the fusion of a subpopulation of synaptic vesicles with the cell membrane at the active zone, the subsequent endocytosis back from the plasma membrane, the refilling of these vesicles with neurotransmitters, and trafficking back to the active zone pool of vesicles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0004792 abnormal synaptic vesicle number "anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0009538 abnormal synapse morphology "any strucutral anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.850]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * 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: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0011270 decreased excitatory postsynaptic current amplitude "reduction in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave" [MGI:csmith]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000003200 Q62419 / Sh3gl1 / SH3-domain GRB2-like 1 / Q99961* / SH3 domain containing GRB2 like 1, endophilin A2*  / complex






 

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