KIF21A Gene Summary [Human]
This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
Details
| Type | Retained Intron |
| Official Symbol | KIF21A |
| Official Name | kinesin family member 21A [Source:HGNC Symbol;Acc:HGNC:19349] |
| Ensembl ID | ENSG00000139116 |
| Bio databases IDs | |
| Aliases | kinesin family member 21A |
| Synonyms | CFEOM1, FEOM1, FEOM3A, Kif21a predicted, kinesin family member 21A |
| 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 KIF21A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Flagellar FliJ protein
- Domain of unknown function (DUF4515)
- Ciliary protein causing Leber congenital amaurosis disease
- Ezrin/radixin/moesin, alpha-helical domain
- Myosin and Kinesin motor domain
- WD domain, G-beta repeat
- helix-rich Mycoplasma protein
- WD40
- protein domain specific binding
- enzyme
- protein binding
- Centrosome localization domain of Cep57
- Kinesin motor, catalytic domain
- microtubule binding
- flagellar export protein FliJ
- WD40 repeats
- Chromatin assembly factor 1 complex p150 subunit, N-terminal
- Kinesin motor domain
- Family with sequence similarity 184, A and B
- plus-end-directed kinesin ATPase
- regulatory coiled-coil domain found in the kinesin-like KIF21 family
- iSH2_PI3K_IA_R
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congenital fibrosis of extraocular muscles 3B
- congenital fibrosis of extraocular muscles type 1
- congenital fibrosis of extraocular muscles
- gastric cancer
- primary central nervous system lymphoma
- primary cancer
- lymphomagenesis
- central nervous system cancer
regulates
role in cell
- growth
- polymerization
- guidance
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
- presynaptic regions
- cytosol
- perikaryon
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KIF21A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- microtubule-based movement
Cellular Component
Where in the cell the gene product is active
- dendrite
- cytosol
- kinesin complex
- axon
- microtubule
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- microtubule motor activity
- protein binding
- ankyrin repeat binding
- microtubule binding