ENSG00000205726


Homo sapiens

Features
Gene ID: ENSG00000205726
  
Biological name :ITSN1
  
Synonyms : intersectin 1 / ITSN1 / Q15811
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 21
Strand: 1
Band: q22.11
Gene start: 33642400
Gene end: 33899861
  
Corresponding Affymetrix probe sets: 1557279_at (Human Genome U133 Plus 2.0 Array)   1557280_s_at (Human Genome U133 Plus 2.0 Array)   207322_at (Human Genome U133 Plus 2.0 Array)   209297_at (Human Genome U133 Plus 2.0 Array)   209298_s_at (Human Genome U133 Plus 2.0 Array)   210713_at (Human Genome U133 Plus 2.0 Array)   230042_at (Human Genome U133 Plus 2.0 Array)   35776_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000407132
Ensembl peptide - ENSP00000400079
Ensembl peptide - ENSP00000408319
Ensembl peptide - ENSP00000415302
Ensembl peptide - ENSP00000413290
Ensembl peptide - ENSP00000411464
Ensembl peptide - ENSP00000409800
Ensembl peptide - ENSP00000369294
Ensembl peptide - ENSP00000370683
Ensembl peptide - ENSP00000370684
Ensembl peptide - ENSP00000370685
Ensembl peptide - ENSP00000370691
Ensembl peptide - ENSP00000370719
Ensembl peptide - ENSP00000382275
Ensembl peptide - ENSP00000382286
Ensembl peptide - ENSP00000382289
Ensembl peptide - ENSP00000382290
Ensembl peptide - ENSP00000382292
Ensembl peptide - ENSP00000382301
Ensembl peptide - ENSP00000396054
NCBI entrez gene - 6453     See in Manteia.
OMIM - 602442
RefSeq - XM_017028441
RefSeq - NM_001331011
RefSeq - NM_003024
RefSeq - XM_005261026
RefSeq - XM_005261027
RefSeq - XM_005261031
RefSeq - XM_011529691
RefSeq - XM_011529692
RefSeq - XM_011529693
RefSeq - XM_017028428
RefSeq - XM_017028429
RefSeq - XM_017028430
RefSeq - XM_017028431
RefSeq - XM_017028432
RefSeq - XM_017028433
RefSeq - XM_017028434
RefSeq - XM_017028435
RefSeq - XM_017028436
RefSeq - XM_017028437
RefSeq - XM_017028438
RefSeq - XM_017028439
RefSeq - XM_017028440
RefSeq - NM_001001132
RefSeq - NM_001331008
RefSeq - NM_001331009
RefSeq Peptide - NP_003015
RefSeq Peptide - NP_001317941
RefSeq Peptide - NP_001001132
RefSeq Peptide - NP_001317937
RefSeq Peptide - NP_001317938
RefSeq Peptide - NP_001317939
RefSeq Peptide - NP_001317940
swissprot - H0Y6W3
swissprot - H0Y7J7
swissprot - H7C3F1
swissprot - D6PAW0
swissprot - Q15811
swissprot - Q6J334
swissprot - A8CTZ0
swissprot - H7C429
swissprot - C9JXS9
swissprot - C9JQZ7
swissprot - C9J1A4
swissprot - F8W7U0
swissprot - H0Y3G5
swissprot - H0Y523
Ensembl - ENSG00000205726
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 itsn1ENSDARG00000000086Danio rerio
 ITSN1ENSGALG00000036677Gallus gallus
 Itsn1ENSMUSG00000022957Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ITSN2 / Q9NZM3 / intersectin 2ENSG0000019839960
EPS15 / P42566 / epidermal growth factor receptor pathway substrate 15ENSG0000008583212
Q9UBC2 / EPS15L1 / epidermal growth factor receptor pathway substrate 15 like 1ENSG0000012752712
REPS1 / Q96D71 / RALBP1 associated Eps domain containing 1ENSG000001355977
REPS2 / Q8NFH8 / RALBP1 associated Eps domain containing 2ENSG000001698917
EHD3 / Q9NZN3 / EH domain containing 3ENSG000000130166
EHD1 / Q9H4M9 / EH domain containing 1ENSG000001100475
EHD2 / Q9NZN4 / EH domain containing 2ENSG000000244225
EHD4 / Q9H223 / EH domain containing 4ENSG000001039665
SRL / Q86TD4 / sarcalumeninENSG000001857393


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
 IPR027029  Intersectin-2
 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:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007264 small GTPase mediated signal transduction IEA
 biological_processGO:0016032 viral process IEA
 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:0043065 positive regulation of apoptotic process TAS
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0048013 ephrin receptor signaling pathway TAS
 biological_processGO:0048488 synaptic vesicle endocytosis TAS
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction TAS
 biological_processGO:0051897 positive regulation of protein kinase B signaling IEA
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005905 clathrin-coated pit IEA
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030027 lamellipodium IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030139 endocytic vesicle IEA
 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 TAS
 molecular_functionGO:0005089 Rho guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005509 calcium ion binding NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019209 kinase activator activity IEA
 molecular_functionGO:0032947 protein-containing complex scaffold activity IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0070064 proline-rich region binding IPI


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
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000108947 EFNB3 / Q15768 / ephrin B3  / complex / reaction
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / complex / reaction
 ENSG00000106299 WASL / O00401 / Wiskott-Aldrich syndrome like  / complex / reaction
 ENSG00000184009 ACTG1 / P63261 / actin gamma 1  / reaction / complex
 ENSG00000075624 ACTB / P60709 / actin beta  / reaction / complex
 ENSG00000090776 EFNB1 / P98172 / ephrin B1  / complex / reaction
 ENSG00000125266 EFNB2 / P52799 / ephrin B2  / reaction / complex






 

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