ENSMUSG00000030638


Mus musculus

Features
Gene ID: ENSMUSG00000030638
  
Biological name :Sh3gl3
  
Synonyms : endophilin-A3 isoform 3 / Sh3gl3
  
Possible biological names infered from orthology : Q99963 / SH3 domain containing GRB2 like 3, endophilin A3
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: D3
Gene start: 82173840
Gene end: 82307419
  
Corresponding Affymetrix probe sets: 10554588 (MoGene1.0st)   1432103_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000137621
Ensembl peptide - ENSMUSP00000032874
Ensembl peptide - ENSMUSP00000137207
Ensembl peptide - ENSMUSP00000137482
Ensembl peptide - ENSMUSP00000137570
NCBI entrez gene - 20408     See in Manteia.
MGI - MGI:700011
RefSeq - NM_017400
RefSeq - NM_001277955
RefSeq - NM_001277954
RefSeq Peptide - NP_059096
RefSeq Peptide - NP_001264883
RefSeq Peptide - NP_001264884
swissprot - J3QK75
swissprot - A0A0R4J0B8
swissprot - J3QQ44
swissprot - J3QQ08
Ensembl - ENSMUSG00000030638
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sh3gl3aENSDARG00000013360Danio rerio
 sh3gl3bENSDARG00000007302Danio rerio
 SH3GL3ENSGALG00000006045Gallus gallus
 Q99963ENSG00000140600Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q62419 / Sh3gl1 / SH3-domain GRB2-like 1 / Q99961* / SH3 domain containing GRB2 like 1, endophilin A2*ENSMUSG0000000320069
Q62420 / Sh3gl2 / SH3-domain GRB2-like 2 / Q99962* / SH3 domain containing GRB2 like 2, endophilin A1*ENSMUSG0000002848867
Q8R3V5 / Sh3glb2 / SH3-domain GRB2-like endophilin B2 / Q9NR46* / SH3 domain containing GRB2 like, endophilin B2*ENSMUSG0000002686026
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
 IPR032469  Endophilin-A3, BAR domain
 IPR035824  Endophilin-A, SH3 domain
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005769 early endosome IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0042802 identical protein 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:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
Show

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

 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: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"]
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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]
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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
 ENSMUSG00000030638 Sh3gl3 / endophilin-A3 isoform 3 / Q99963* / SH3 domain containing GRB2 like 3, endophilin A3*  / complex






 

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