KIF1C Gene Summary [Human]
The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]
Details
| Type | Protein Coding |
| Official Symbol | KIF1C |
| Official Name | kinesin family member 1C [Source:HGNC Symbol;Acc:HGNC:6317] |
| Ensembl ID | ENSG00000129250 |
| Bio databases IDs | |
| Aliases | kinesin family member 1C |
| Synonyms | B430105J22Rik, D11Bwg1349e, KIF1D, Kinesin-1C, kinesin family member 1C, LTXS1, Orch3, SATX2, SAX2, SPAX2, SPG58 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KIF1C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Kinesin motor, catalytic domain
- microtubule binding
- Myosin and Kinesin motor domain
- FHA domain
- Kinesin motor domain
- Syp binding domain
- Forkhead associated domain
- protein binding
- motor protein
- forkhead associated (FHA) domain superfamily
- Kinesin-associated
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive spastic ataxia type 2
- organismal death
- cerebellar ataxia
- hereditary spastic ataxia
- idiopathic scoliosis
- mental retardation
- hereditary spastic paraplegia
- keratoconus
role in cell
- apoptosis
- survival
- cell viability
- instability
- invasion by
- motility
- redistribution
- mitosis
- elongation
- depletion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microtubule fractions
- membrane fraction
- invadopodia
- cell periphery
- centrosome
- Golgi Apparatus
- Endoplasmic Reticulum
- transport vesicles
- plus end of microtubule
- cellular protrusions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KIF1C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vesicle-mediated transport
- cytoskeleton-dependent intracellular transport
- retrograde vesicle-mediated transport, Golgi to ER
- microtubule-based movement
Cellular Component
Where in the cell the gene product is active
- dendrite
- kinesin complex
- endoplasmic reticulum
- Golgi apparatus
- axon
- microtubule
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- RNA binding
- protein binding
- plus-end-directed microtubule motor activity
- motor activity
- microtubule binding