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 enable ATP binding activity; microtubule binding activity; and microtubule motor activity. Predicted to be involved in system development and transport along microtubule. Predicted to act upstream of or within microtubule-based movement. Predicted to be located in microtubule; synapse; and transport vesicle membrane. Human ortholog(s) of this gene implicated in NESCAV syndrome; 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 |
| NESCAV syndrome | Alliance | NESCAV syndrome | 614255 |
| Spastic paraplegia 30, autosomal recessive | 620607 |
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 |
| Domain | IPR049779 | Kinesin-like protein KIF1A, forkhead associated domain |
| Domain | IPR049780 | Kinesin-like protein KIF1A/B, pleckstrin homology domain |
| 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
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kif1aa-201
(1)
|
Ensembl | 5,037 nt | ||
| mRNA |
kif1aa-202
(1)
|
Ensembl | 9,247 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance