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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| kinesin family member 1A | MIM:601255 | Ensembl:ENSG00000130294 | HGNC:HGNC:888 | PA25180 | 2q37.3 |
GO terms in KIF1A
| 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 |
| MF | IBA | GO:0016887 | ATPase activity |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IEA | GO:0042803 | protein homodimerization activity |
| CC | IEA | GO:0005829 | cytosol |
| CC | IBA | GO:0005871 | kinesin complex |
| CC | IBA | GO:0005874 | microtubule |
| CC | IEA | GO:0005874 | microtubule |
| CC | IEA | GO:0008021 | synaptic vesicle |
| CC | IBA | GO:0030424 | axon |
| CC | IBA | GO:0030425 | dendrite |
| CC | IEA | GO:0030425 | dendrite |
| CC | IBA | GO:0043005 | neuron projection |
| CC | IEA | GO:0043025 | neuronal cell body |
| CC | IEA | GO:0098794 | postsynapse |
| CC | IEA | GO:1904115 | axon cytoplasm |
| BP | IBA | GO:0007018 | microtubule-based movement |
| BP | TAS | GO:0008089 | anterograde axonal transport |
| BP | IBA | GO:0016192 | vesicle-mediated transport |
| BP | IEA | GO:0022027 | interkinetic nuclear migration |
| BP | IBA | GO:0030705 | cytoskeleton-dependent intracellular transport |
| BP | IEA | GO:0098840 | protein transport along microtubule |
| BP | ISS | GO:1990048 | anterograde neuronal dense core vesicle transport |
| BP | ISS | GO:1990049 | retrograde neuronal dense core vesicle transport |
Gene expression in normal tissue: KIF1A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KIF1A
| 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 |
| reactome | R-HSA-983189 | Kinesins |
| reactome | R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KIF1A
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.