ENSMUSG00000021314


Mus musculus

Features
Gene ID: ENSMUSG00000021314
  
Biological name :Amph
  
Synonyms : Amph / Amphiphysin / Q7TQF7
  
Possible biological names infered from orthology : P49418
  
Species: Mus musculus
  
Chr. number: 13
Strand: 1
Band: A2
Gene start: 18948205
Gene end: 19150921
  
Corresponding Affymetrix probe sets: 10403796 (MoGene1.0st)   1427044_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000003345
Ensembl peptide - ENSMUSP00000142766
NCBI entrez gene - 218038     See in Manteia.
MGI - MGI:103574
RefSeq - XM_011244304
RefSeq - NM_001289546
RefSeq - NM_175007
RefSeq Peptide - NP_001276475
RefSeq Peptide - NP_778172
swissprot - Q7TQF7
swissprot - A0A0G2JEG8
Ensembl - ENSMUSG00000021314
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 amphENSDARG00000007663Danio rerio
 AMPHENSGALG00000032958Gallus gallus
 AMPHENSG00000078053Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Bin1 / O08539 / Myc box-dependent-interacting protein 1 / O00499* / bridging integrator 1*ENSMUSG0000002438140
Bin2 / bridging integrator 2ENSMUSG0000009811224


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR003005  Amphiphysin
 IPR003017  Amphiphysin, isoform 1
 IPR004148  BAR domain
 IPR027267  AH/BAR domain superfamily
 IPR035470  Amphiphysin I, SH3 domain
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007612 learning IMP
 biological_processGO:0048488 synaptic vesicle endocytosis IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0008021 synaptic vesicle IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030672 synaptic vesicle membrane IEA
 cellular_componentGO:0031256 leading edge membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005543 phospholipid binding IEA


Pathways (from Reactome)
Pathway description
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001454 abnormal cued conditioning behavior "defect in the ability of an animal to learn and remember an association between an an aversive experience (the unconditioned stimulus (US), ususally a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light)" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Nodaltm1Hmd/Nodal+,Tg(Leftb)1Hmd/0
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)

 MP:0001463 abnormal spatial learning "defects in the abilibity to navigate using behavioraly meaningful locations" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Nodaltm1Hmd/Nodal+,Tg(Leftb)1Hmd/0
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)

 MP:0001469 abnormal contextual conditioning "defect in the ability of an animal to learn and remember an association between an an aversive experience (the unconditioned stimulus (US), ususally a shock) and a neutral stimulus (the conditioned stimulus (CS), or the environmental context in this case)" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Nodaltm1Hmd/Nodal+,Tg(Leftb)1Hmd/0
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)

 MP:0001932 abnormal spermiogenesis "failure of sperm cells to form or differentiate" [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: Nodaltm1Hmd/Nodal+,Tg(Leftb)1Hmd/0
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)

 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: Nodaltm1Hmd/Nodal+,Tg(Leftb)1Hmd/0
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)

 MP:0002784 abnormal Sertoli cell morphology "malformation of the cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis" [J:65900, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Nodaltm1Hmd/Nodal+,Tg(Leftb)1Hmd/0
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)

 MP:0002826 tonic seizures "increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Nodaltm1Hmd/Nodal+,Tg(Leftb)1Hmd/0
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)

 MP:0002906 susceptibility to pharmacologically induced seizures "inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:69504]
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Allelic Composition: Nodaltm1Hmd/Nodal+,Tg(Leftb)1Hmd/0
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)

 MP:0004182 abnormal spermiation "failure of mature spermatozoa to release from supporting Sertoli cells into the lumen of seminiferous tubules" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Nodaltm1Hmd/Nodal+,Tg(Leftb)1Hmd/0
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)

 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"]
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Allelic Composition: Nodaltm1Hmd/Nodal+,Tg(Leftb)1Hmd/0
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)

 MP:0006380 abnormal spermatid morphology "anomaly in the number or structure of the male germ cells that without further cell division give rise to mature spermatozoa" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nodaltm1Hmd/Nodal+,Tg(Leftb)1Hmd/0
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000024381 Bin1 / O08539 / Myc box-dependent-interacting protein 1 / O00499* / bridging integrator 1*  / complex






 

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