KIF7 Gene Summary [Human]
This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | KIF7 |
| Official Name | kinesin family member 7 [Source:HGNC Symbol;Acc:HGNC:30497] |
| Ensembl ID | ENSG00000166813 |
| Bio databases IDs | |
| Aliases | kinesin family member 7 |
| Synonyms | ACLS, AGBK, HLS2, JBTS12, kinesin family member 7, LOC254571, MMEDF, UNQ340 |
| 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 KIF7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Mitotic checkpoint protein
- Kinesin motor, catalytic domain
- microtubule binding
- Domain of unknown function (DUF4686)
- Myosin and Kinesin motor domain
- Kinesin motor domain
- protein binding
- identical protein binding
- microtubule motor protein
Pathways
Biological processes and signaling networks where the KIF7 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acrocallosal syndrome
- hereditary disorder
- hydrolethalus syndrome type 2
- congenital heart disease
- male infertility
- exencephaly
- Joubert syndrome type 12
- preaxial polydactyly
- digenic Joubert syndrome 12/15
- macrocephaly with multiple epiphyseal dysplasia and distinctive facies
role in cell
- differentiation
- lack
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- fibrillar center
- intracellular membrane-bounded organelle
- ciliary tip
- cilia
- basal bodies
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KIF7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of smoothened signaling pathway
- microtubule-based movement
- negative regulation of smoothened signaling pathway
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cilium basal body
- cilium
- kinesin complex
- microtubule
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- microtubule motor activity
- protein binding
- microtubule binding