ITSN1
Summary: The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| intersectin 1 | MIM:602442 | Ensembl:ENSG00000205726 | HGNC:HGNC:6183 | PA29981 | 21q22.11 |
Gene Categories:
KINASEGO terms in ITSN1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | IEA | GO:0007264 | small GTPase mediated signal transduction |
| BP | IEA | GO:0016032 | viral process |
| BP | IEA | GO:0035023 | regulation of Rho protein signal transduction |
| BP | IEA | GO:0042327 | positive regulation of phosphorylation |
| BP | TAS | GO:0043065 | positive regulation of apoptotic process |
| BP | IEA | GO:0043524 | negative regulation of neuron apoptotic process |
| BP | TAS | GO:0048013 | ephrin receptor signaling pathway |
| BP | TAS | GO:0048488 | synaptic vesicle endocytosis |
| BP | TAS | GO:0051056 | regulation of small GTPase mediated signal transduction |
| BP | IEA | GO:0051897 | positive regulation of protein kinase B signaling |
| BP | TAS | GO:0061024 | membrane organization |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005905 | clathrin-coated pit |
| CC | IEA | GO:0030027 | lamellipodium |
| CC | IEA | GO:0030054 | cell junction |
| CC | IEA | GO:0030139 | endocytic vesicle |
| CC | IEA | GO:0043005 | neuron projection |
| CC | IEA | GO:0045202 | synapse |
| MF | NAS | GO:0005085 | guanyl-nucleotide exchange factor activity |
| MF | TAS | GO:0005085 | guanyl-nucleotide exchange factor activity |
| MF | TAS | GO:0005089 | Rho guanyl-nucleotide exchange factor activity |
| MF | NAS | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0019209 | kinase activator activity |
| MF | IDA | GO:0032947 | protein-containing complex scaffold activity |
| MF | IPI | GO:0070064 | proline-rich region binding |
Gene expression in normal tissue: ITSN1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ITSN1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-193648 | NRAGE signals death through JNK |
| reactome | R-HSA-193704 | p75 NTR receptor-mediated signalling |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-194840 | Rho GTPase cycle |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-204998 | Cell death signalling via NRAGE, NRIF and NADE |
| reactome | R-HSA-2682334 | EPH-Ephrin signaling |
| reactome | R-HSA-2682334 | EPH-Ephrin signaling |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-3928662 | EPHB-mediated forward signaling |
| reactome | R-HSA-3928662 | EPHB-mediated forward signaling |
| reactome | R-HSA-416482 | G alpha (12/13) signalling events |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-73887 | Death Receptor Signalling |
| reactome | R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis |
| reactome | R-HSA-8856828 | Clathrin-mediated endocytosis |
| pid | cdc42_reg_pathway | Regulation of CDC42 activity |
| pid | ephbfwdpathway | EPHB forward signaling |
| pid | erbb1_internalization_pathway | Internalization of ErbB1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ITSN1
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