| Gene Symbol |
ITSN1
|
| Entrez Gene |
6453
|
| Alt Symbol |
ITSN, SH3D1A, SH3P17
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
intersectin 1 (SH3 domain protein)
|
| Other Description |
SH3 domain-containing protein 1A|Src homology 3 domain-containing protein|human intersectin-SH3 domain-containing protein SH3P17|intersectin 1 short form variant 3|intersectin 1 short form variant, 11|intersectin short variant 12|intersectin-1
|
| Swissprots |
Q9UNK2 Q14BD3 Q9UQ92 Q20BK3 A8DCP3 E9PE44 E7ERJ1 A7Y322 Q9UK60 Q9UNK1 Q0PW94 Q15811 Q1ED40 A8D7D0 E9PG01 A8CTY3 A8CTX8 O95216 Q0PW95 E9PHV2 Q9UET5 B4DTM2 A8CTY7 Q0PW97
|
| Accessions |
AAC80436 AAC80437 EAX09805 EAX09806 EAX09807 EAX09808 Q15811 AF064243 AAC78610 AF064244 AAC78611 AF085873 AF114487 AAD29952 AF114488 AAD29953 AF180522 AAD53183 AI857585 AK027846 AK074554 AK075290 AK300274 BAG62034 AY138139 AAN11307 AY254341 AAP13099 AY340592 AAQ19991 AY340593 AAQ19992 AY603418 AAT28305 AY603419 AAT28306 AY605091 AAT36645 AY605092 AAT36646 AY639648 AY639649 AY639650 AY639651 AY639652 AY639653 BC013578 BC020269 BC039036 AAH39036 BC058925 AAH58925 BC073744 AAH73744 BC116185 AAI16186 BC116186 AAI16187 BC117560 AAI17561 BX538175 CAD98050 BX648852 DQ340865 ABC69037 DQ386455 ABD72328 DQ679754 ABG74695 DQ679755 ABG74696 DQ679756 ABG74697 DQ679757 ABG74698 EU107386 ABV03351 EU117382 ABV21755 EU120733 ABV24866 EU120734 ABV24867 EU120735 ABV24868 EU120736 ABV24869 EU140799 ABV58335 EU140800 ABV58336 EU152331 ABV69555 EU191901 ABW71829 GU939616 ADF97294 GU939617 ADF97295 GU939618 ADF97296 GU939621 ADF97297 U61166 AAC50592 XM_005261026 XP_005261083 XM_005261027 XP_005261084 XM_005261031 XP_005261088 XM_011529689 XP_011527991 XM_011529690 XP_011527992 XM_011529691 XP_011527993 XM_011529692 XP_011527994 XM_011529693 XP_011527995 XR_244289 NM_001001132 NP_001001132 NM_003024 NP_003015
|
| 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:0000269|PubMed:11744688, ECO:0000269|PubMed:22648170}.
|
| Subcellular Location |
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}.
|
| 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.
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