ENSMUSG00000022957


Mus musculus

Features
Gene ID: ENSMUSG00000022957
  
Biological name :Itsn1
  
Synonyms : Intersectin-1 / Itsn1 / Q9Z0R4
  
Possible biological names infered from orthology : Q15811
  
Species: Mus musculus
  
Chr. number: 16
Strand: 1
Band: C4
Gene start: 91729281
Gene end: 91920597
  
Corresponding Affymetrix probe sets: 10436892 (MoGene1.0st)   1421192_a_at (Mouse Genome 430 2.0 Array)   1425899_a_at (Mouse Genome 430 2.0 Array)   1435884_at (Mouse Genome 430 2.0 Array)   1435885_s_at (Mouse Genome 430 2.0 Array)   1436579_s_at (Mouse Genome 430 2.0 Array)   1441034_at (Mouse Genome 430 2.0 Array)   1442637_at (Mouse Genome 430 2.0 Array)   1452338_s_at (Mouse Genome 430 2.0 Array)   1459621_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000114718
Ensembl peptide - ENSMUSP00000114145
Ensembl peptide - ENSMUSP00000115563
Ensembl peptide - ENSMUSP00000119654
Ensembl peptide - ENSMUSP00000117320
Ensembl peptide - ENSMUSP00000117018
Ensembl peptide - ENSMUSP00000115985
Ensembl peptide - ENSMUSP00000056011
Ensembl peptide - ENSMUSP00000066361
Ensembl peptide - ENSMUSP00000093598
Ensembl peptide - ENSMUSP00000109626
Ensembl peptide - ENSMUSP00000109629
Ensembl peptide - ENSMUSP00000109632
Ensembl peptide - ENSMUSP00000109634
Ensembl peptide - ENSMUSP00000109635
NCBI entrez gene - 16443     See in Manteia.
MGI - MGI:1338069
RefSeq - XM_011246102
RefSeq - NM_001110275
RefSeq - NM_001110276
RefSeq - NM_010587
RefSeq - XM_006522931
RefSeq - XM_006522932
RefSeq - XM_006522933
RefSeq - XM_006522934
RefSeq - XM_006522935
RefSeq - XM_006522936
RefSeq - XM_006522937
RefSeq - XM_006522938
RefSeq - XM_006522939
RefSeq - XM_006522940
RefSeq Peptide - NP_001103745
RefSeq Peptide - NP_001103746
RefSeq Peptide - NP_034717
swissprot - Q6J1S9
swissprot - E9Q3I9
swissprot - E9Q3I8
swissprot - E9Q3I5
swissprot - E9Q3I4
swissprot - F6R6C8
swissprot - F6TCC6
swissprot - F6U8U1
swissprot - F6ZLP6
swissprot - F6ZX53
swissprot - E9Q0N0
swissprot - Q6NZJ5
swissprot - Q9Z0R4
swissprot - D3Z6P4
Ensembl - ENSMUSG00000022957
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 itsn1ENSDARG00000000086Danio rerio
 ITSN1ENSGALG00000036677Gallus gallus
 ITSN1ENSG00000205726Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Itsn2 / intersectin 2 / Q9NZM3*ENSMUSG0000002064059
Q60902 / Eps15l1 / Epidermal growth factor receptor substrate 15-like 1 / Q9UBC2* / epidermal growth factor receptor pathway substrate 15 like 1*ENSMUSG0000000627612
Eps15 / P42567 / Epidermal growth factor receptor substrate 15 / P42566* / epidermal growth factor receptor pathway substrate 15*ENSMUSG0000002855212
Reps1 / O54916 / RalBP1-associated Eps domain-containing protein 1 / Q96D71* / RALBP1 associated Eps domain containing 1*ENSMUSG000000198547
Reps2 / RALBP1 associated Eps domain containing protein 2 / Q8NFH8* / RALBP1 associated Eps domain containing 2*ENSMUSG000000408556
Ehd3 / Q9QXY6 / EH domain-containing protein 3 / Q9NZN3* / EH domain containing 3*ENSMUSG000000240656
Ehd2 / Q8BH64 / EH domain-containing protein 2 / Q9NZN4* / EH domain containing 2*ENSMUSG000000743645
Ehd1 / Q9WVK4 / EH domain-containing protein 1 / Q9H4M9* / EH domain containing 1*ENSMUSG000000247725
Ehd4 / Q9EQP2 / EH domain-containing protein 4 / Q9H223* / EH domain containing 4*ENSMUSG000000272935
Srl / Q7TQ48 / Sarcalumenin / Q86TD4*ENSMUSG000000225193


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR000219  Dbl homology (DH) domain
 IPR000261  EH domain
 IPR001331  Guanine-nucleotide dissociation stimulator, CDC24, conserved site
 IPR001452  SH3 domain
 IPR001849  Pleckstrin homology domain
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR011993  PH-like domain superfamily
 IPR018247  EF-Hand 1, calcium-binding site
 IPR035892  C2 domain superfamily
 IPR035899  Dbl homology (DH) domain superfamily
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007264 small GTPase mediated signal transduction IDA
 biological_processGO:0035023 regulation of Rho protein signal transduction IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0042327 positive regulation of phosphorylation IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IMP
 biological_processGO:0051897 positive regulation of protein kinase B signaling IDA
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005905 clathrin-coated pit ISO
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030027 lamellipodium IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030139 endocytic vesicle IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005089 Rho guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0019209 kinase activator activity IDA
 molecular_functionGO:0032947 protein-containing complex scaffold activity ISO
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0070064 proline-rich region binding ISO


Pathways (from Reactome)
Pathway description
NRAGE signals death through JNK
Rho GTPase cycle
EPHB-mediated forward signaling
G alpha (12/13) signalling events
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Itsn1tm2.1Mapr/Itsn1tm2.1Mapr
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

 MP:0000780 abnormal corpus callosum morphology "malformation or absence of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres" [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: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz,Itsn2tm1Egan/Itsn2tm1Egan
Genetic Background: involves: 129S2/SvPas

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz,Itsn2tm1Egan/Itsn2tm1Egan
Genetic Background: involves: 129S2/SvPas

 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: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Itsn1tm2.1Mapr/Itsn1tm2.1Mapr
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

 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]
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Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz,Itsn2tm1Egan/Itsn2tm1Egan
Genetic Background: involves: 129S2/SvPas

 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: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz,Itsn2tm1Egan/Itsn2tm1Egan
Genetic Background: involves: 129S2/SvPas

 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: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Itsn1tm2.1Mapr/Itsn1tm2.1Mapr
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

 MP:0001739 abnormal adrenal secretion "altered ability of the surparenal gland to secrete hormones " [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Itsn1tm2.1Mapr/Itsn1tm2.1Mapr
Genetic Background: involves: 129S6/SvEvTac * 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: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Itsn1tm2.1Mapr/Itsn1tm2.1Mapr
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0003005 abnormal hippocampal fimbria "malformations in the flattened band of efferent fibers arising from the subiculum and medial border of the hippocampus, which then thickens to form the fornix and fibers of the hippocampal commissure" [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: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

 MP:0003006 abnormal hippocampal fornix "malformations in the compact, white, heavily myelinated fiber bundle arising from the Ammon horn of the hippocampus in each cerebral hemisphere and projecting to the hypothalamus and the mammillary body" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

 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: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Itsn1tm2.1Mapr/Itsn1tm2.1Mapr
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0008026 abnormal brain white matter morphology "any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz,Itsn2tm1Egan/Itsn2tm1Egan
Genetic Background: involves: 129S2/SvPas

 MP:0008225 abnormal anterior commissure morphology "any structural anomaly of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

 MP:0008226 decreased anterior commissure size "reduced size of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Eya1tm1Rilm/Eya1+
Genetic Background: involves: 129 * C3HeB/FeJ

Allelic Composition: Itsn1tm2.1Mapr/Itsn1tm2.1Mapr
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0009454 impaired contextual conditioning "decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz
Genetic Background: 129.129S2-Itsn1Gt(pT1ATGBetageo)1Ruiz

Allelic Composition: Itsn1Gt(pT1ATGBetageo)1Ruiz/Itsn1Gt(pT1ATGBetageo)1Ruiz,Itsn2tm1Egan/Itsn2tm1Egan
Genetic Background: involves: 129S2/SvPas

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Hprtb-m3/Y,Impdh2tm1Bmi/Impdh2+
Genetic Background: involves: 129P2/OlaHsd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000006699 Cdc42 / P60766 / Cell division control   / reaction / complex
 ENSMUSG00000029684 Wasl / Q91YD9 / Wiskott-Aldrich syndrome-like (human) / O00401* / Wiskott-Aldrich syndrome like*  / reaction / complex
 ENSMUSG00000062825 Actg1 / P63260 / Actin, cytoplasmic 2 Actin, cytoplasmic 2, N-terminally processed / P63261* / actin gamma 1*  / complex / reaction
 ENSMUSG00000028664 Ephb2 / P54763 / Ephrin type-B receptor 2 / P29323* / EPH receptor B2*  / complex / reaction
 ENSMUSG00000031217 Efnb1 / P52795 / Ephrin-B1 / P98172*  / complex
 ENSMUSG00000003934 Efnb3 / O35393 / Ephrin-B3 / Q15768*  / complex
 ENSMUSG00000001300 Efnb2 / P52800 / Ephrin-B2 / P52799*  / complex
 ENSMUSG00000032537 Ephb1 / Q8CBF3 / Ephrin type-B receptor 1 / P54762* / EPH receptor B1*  / complex
 ENSMUSG00000005958 Ephb3 / P54754 / Ephrin type-B receptor 3 / P54753* / EPH receptor B3*  / complex
 ENSMUSG00000029710 Ephb4 / P54761 / Ephrin type-B receptor 4 / P54760* / EPH receptor B4*  / complex
 ENSMUSG00000029580 Actb / P60710 / Actin, cytoplasmic 1 Actin, cytoplasmic 1, N-terminally processed / POTEJ* / P60709* / P0CG39* / actin beta* / POTE ankyrin domain family member J*  / complex / reaction






 

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