KIF5C Gene Summary [Human]
The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]
Details
| Type | Retained Intron |
| Official Symbol | KIF5C |
| Official Name | kinesin family member 5C [Source:HGNC Symbol;Acc:HGNC:6325] |
| Ensembl ID | ENSG00000168280 |
| Bio databases IDs | |
| Aliases | kinesin family member 5C, neuron-specific kinesin heavy chain 2 |
| Synonyms | CDCBM2, Khc, KIAA0531, Kif5c (predicted), kinesin family member 5C, KINN, NKHC, NKHC-2 |
| 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 KIF5C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ribonucleoprotein binding domain
- Myosin and Kinesin motor domain
- coiled-coil domain
- enzyme
- protein binding
- receptor binding
- motor domain
- ATPase
- microtubule motor protein
- non-motor domain
- Kinesin motor, catalytic domain
- microtubule binding
- p120-catenin binding domain
- Kinesin motor domain
- cargo binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- schizophrenia
- pervasive developmental disorder
- bipolar disorder
- attention deficit hyperactivity disorder
- major depression
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- complex cortical dysplasia with other brain malformations 2
- non-insulin-dependent diabetes mellitus
- androgenic alopecia
role in cell
- quantity
- guidance
- number
- transport
- localization in
- organization
- autophagy in
- instability
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
- soluble fraction
- axon component
- cell cortex
- ciliary rootlet
- plasma membrane projections
- neurites
- synapse
- perikaryon
- axons
- dendrites
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KIF5C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- motor axon guidance
- synaptic vesicle transport
- intracellular mRNA localization
- axon guidance
- organelle organization
- mRNA transport
Cellular Component
Where in the cell the gene product is active
- ciliary rootlet
- axonal growth cone
- dendrite cytoplasm
- kinesin complex
- neuronal cell body
- microtubule
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- microtubule motor activity
- protein binding
- plus-end-directed microtubule motor activity
- apolipoprotein receptor binding
- microtubule binding