KIFBP Gene Summary [Human]
This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]
Details
| Type | Retained Intron |
| Official Symbol | KIFBP |
| Official Name | kinesin family binding protein [Source:HGNC Symbol;Acc:HGNC:23419] |
| Ensembl ID | ENSG00000198954 |
| Bio databases IDs | |
| Aliases | kinesin family binding protein, kinesin binding protein |
| Synonyms | 0710007C18Rik, 2510003E04Rik, DKFZp586B0923, KBP, KIAA1279, KIF1BP, kinesin family binding protein, mKIAA1279, TTC20 |
| 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 KIFBP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enzyme
- KIF-1 binding protein C terminal
- protein binding
- kinesin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Mitochondria
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KIFBP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- in utero embryonic development
- mitochondrion transport along microtubule
- central nervous system projection neuron axonogenesis
- microtubule cytoskeleton organization
- microtubule-based transport
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- protein binding
- kinesin binding