Gene
kif1aa
- ID
- ZDB-GENE-100913-3
- Name
- kinesin family member 1Aa
- Symbol
- kif1aa Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have ATP-dependent microtubule motor activity, plus-end-directed and microtubule binding activity. Predicted to be involved in cytoskeleton-dependent intracellular transport; microtubule-based movement; and vesicle-mediated transport. Predicted to localize to axon; dendrite; and microtubule cytoskeleton. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 9; hereditary sensory neuropathy; hereditary sensory neuropathy type 2C; hereditary spastic paraplegia; and hereditary spastic paraplegia 30. Orthologous to human KIF1A (kinesin family member 1A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
hereditary sensory neuropathy type 2C | Alliance | Neuropathy, hereditary sensory, type IIC | 614213 |
hereditary spastic paraplegia 30 | Alliance | Spastic paraplegia 30, autosomal dominant | 610357 |
hereditary spastic paraplegia 30 | Alliance | Spastic paraplegia 30, autosomal recessive | 610357 |
NESCAV syndrome | Alliance | NESCAV syndrome | 614255 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR019821 | Kinesin motor domain, conserved site |
Domain | IPR000253 | Forkhead-associated (FHA) domain |
Domain | IPR001752 | Kinesin motor domain |
Domain | IPR001849 | Pleckstrin homology domain |
Domain | IPR022140 | Kinesin-like KIF1-type |
Domain | IPR022164 | Kinesin-like |
Domain | IPR032405 | Kinesin-associated |
Family | IPR027640 | Kinesin-like protein |
Homologous_superfamily | IPR008984 | SMAD/FHA domain superfamily |
Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR036961 | Kinesin motor domain superfamily |
Domain Details Per Protein
Protein | Length | Forkhead-associated (FHA) domain | Kinesin-associated | Kinesin-like | Kinesin-like KIF1-type | Kinesin-like protein | Kinesin motor domain | Kinesin motor domain, conserved site | Kinesin motor domain superfamily | PH-like domain superfamily | Pleckstrin homology domain | P-loop containing nucleoside triphosphate hydrolase | SMAD/FHA domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:E7F4K4
|
1678 | ||||||||||||
UniProtKB:X1WHC0
|
1681 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
kif1aa-202
(1)
|
9247 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance