KIF1A
Summary: The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:601255 Ensembl IDEnsembl:ENSG00000130294 HGNC IDHGNC:HGNC:888 PHARMGKB IDPA25180 Map Location2q37.3 | |||||
GO terms in KIF1A
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0003774 | motor activity |
| MF | IBA | GO:0003777 | microtubule motor activity |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IBA | GO:0008017 | microtubule binding |
| MF | IEA | GO:0008017 | microtubule binding |
| MF | IBA | GO:0008574 | ATP-dependent microtubule motor activity, plus-end-directed |
Gene expression in normal tissue: KIF1A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KIF1A
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| reactome | R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| reactome | R-HSA-8856688 | Golgi-to-ER retrograde transport |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KIF1A
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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