Homo sapiens Protein: ITSN1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-2509.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | ITSN1 | ||||||||||||||||||||||
Protein Name | intersectin 1 (SH3 domain protein) | ||||||||||||||||||||||
Synonyms | ITSN; SH3D1A; SH3P17; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000370691 | ||||||||||||||||||||||
InnateDB Gene | IDBG-2505 (ITSN1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Acts as guanine nucleotide exchange factor (GEF) specific for the CDC42 GTPase (By similarity). Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR may involve association with DAB2. Isoform 1 could be involved in brain-specific synaptic vesicle recycling. Inhibits ARHGAP31 activity toward RAC1. {ECO:0000250, ECO:0000269PubMed:11744688, ECO:0000269PubMed:22648170}. | ||||||||||||||||||||||
Subcellular Localization | Endomembrane system {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Cell projection, lamellipodium. Membrane, clathrin-coated pit. Note=Colocalizes with SGIP1 at the plasma membrane in structures corresponding most problably to clathrin-coated pits. {ECO:0000305}. | ||||||||||||||||||||||
Disease Associations | |||||||||||||||||||||||
Tissue Specificity | Isoform 2 is ubiquitous in adult and fetal tissues with high expression in skeletal muscle, heart, spleen, ovary, testis and all fetal tissues tested and low expression in thymus, blood, lung, liver and pancreas. Isoform 1 is expressed almost exclusively in the brain, in all brain regions. Not expressed in the spinal cord. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 161 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000261
EPS15 homology (EH) IPR001452 SH3 domain IPR002048 EF-hand domain IPR011511 Variant SH3 domain IPR013315 Spectrin alpha chain, SH3 domain IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00018
PF14604 PF00036 PF13202 PF13405 PF07653 |
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PRINTS |
PR00452
PR01887 |
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PIRSF | |||||||||||||||||||||||
SMART |
SM00027
SM00326 SM00054 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q15811 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q15811 | ||||||||||||||||||||||
TrEMBL | D6PAW2 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 6453 | ||||||||||||||||||||||
UniGene | Hs.90221 | ||||||||||||||||||||||
RefSeq | NP_001001132 | ||||||||||||||||||||||
HUGO | HGNC:6183 | ||||||||||||||||||||||
OMIM | 602442 | ||||||||||||||||||||||
CCDS | CCDS33546 | ||||||||||||||||||||||
HPRD | 03898 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF064243 AF064244 AF064245 AF064246 AF064247 AF114487 AF114488 AF180522 AK300274 AP000308 AP000309 AP000310 AP000311 AP000312 AP000313 BC116186 BC117560 DQ386455 DQ679754 DQ679756 DQ679757 EU117382 EU120733 EU120734 EU120735 EU140799 EU140800 EU152331 GU939621 U61166 | ||||||||||||||||||||||
GenPept | AAC50592 AAC78610 AAC78611 AAC80437 AAD29952 AAD29953 AAD53183 AAI16187 AAI17561 ABD72328 ABG74695 ABG74697 ABG74698 ABV21755 ABV24866 ABV24867 ABV24868 ABV58335 ABV58336 ABV69555 ADF97297 BAG62034 | ||||||||||||||||||||||