| Gene Information | |
|---|---|
| Gene Name | ITSN |
| Organism | Homo sapiens (Human) |
| Gene Length | 1721 |
| Protein Names | Intersectin-1 (SH3 domain-containing protein 1A) (SH3P17) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q15811 |
| Gene Card | ITSN1 |
| Uniprot ID | Q15811 |
| Pfam | PF00168; PF12763; PF16617; PF16652; PF00621; PF00018; PF07653; PF14604 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Isoform 1 is expressed almost exclusively in the brain. Isoform 2 is detected in brain, spleen, lung, liver, heart, skeletal muscle and kidney. Isoform 5 is primarily expressed in brain, spleen, lung and kidney (at protein level) (PubMed:21712076). Isoform 1 and isoform 2 are detected in brain (PubMed:10482960). 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 (PubMed:9799604, PubMed:21712076, PubMed:11690630). {ECO:0000269|PubMed:10482960, ECO:0000269|PubMed:11690630, ECO:0000269|PubMed:21712076, ECO:0000269|PubMed:9799604}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 1KI1 (X-ray 2.30A ) 2KGR (NMR - ) 2KHN (NMR - ) 3FIA (X-ray 1.45A ) 3QBV (X-ray 2.65A ) 4IIM (X-ray 1.80A ) 5HZI (X-ray 2.60A ) 5HZJ (X-ray 2.60A ) 5HZK (X-ray 3.30A ) 6GBU (X-ray 3.44A ) 6H5T (X-ray 1.69A ) |
| DBSNP | rs187895245 |
| Subcellular location [CC] | Endomembrane system {ECO:0000269|PubMed:11744688}. Synapse, synaptosome {ECO:0000250|UniProtKB:Q9WVE9}. Cell projection, lamellipodium {ECO:0000269|PubMed:11744688}. Cell membrane {ECO:0000269|PubMed:11744688, ECO:0000269|PubMed:20946875}. Membrane, clathrin-coated pit {ECO:0000269|PubMed:20946875, ECO:0000269|PubMed:29887380}. Recycling endosome {ECO:0000269|PubMed:29030480}. Endosome {ECO:0000250|UniProtKB:Q9Z0R4}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:Q9Z0R4}. Note=Colocalizes with SGIP1 at the plasma membrane in structures corresponding most probably to clathrin-coated pits (PubMed:20946875). Colocalizes with RAB13 on cytoplasmic vesicles that are most likely recycling endosomes (PubMed:29030480). {ECO:0000269|PubMed:20946875, ECO:0000269|PubMed:29030480}.; [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:29599122}. Endomembrane system {ECO:0000269|PubMed:21712076}. Nucleus envelope {ECO:0000269|PubMed:29599122}. Note=Shuttles between the cytoplasm and nucleus in an XPO1/CRM1-dependent manner. {ECO:0000269|PubMed:29599122}.; [Isoform 5]: Endomembrane system {ECO:0000269|PubMed:21712076}. |
| Mouse PG classification | NA |
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