Gene
kif1ab
- ID
- ZDB-GENE-070912-480
- Name
- kinesin family member 1Ab
- Symbol
- kif1ab Nomenclature History
- Previous Names
-
- si:dkey-261l2.2
- Type
- protein_coding_gene
- Location
- Chr: 2 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 |
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 | 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
Protein | Length | Forkhead-associated (FHA) domain | Kinesin-associated | Kinesin-like | Kinesin-like KIF1-type | Kinesin-like protein KIF1A/B, pleckstrin homology domain | 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:A0A8M2BIG3
|
1675 | ||||||||||||
UniProtKB:A0A8M3B7Q1
|
1790 | ||||||||||||
UniProtKB:A0A8M9P8Y8
|
1789 | ||||||||||||
UniProtKB:A0A8M3AQ79
|
1776 | ||||||||||||
UniProtKB:A0A8M3APQ1
|
1799 | ||||||||||||
UniProtKB:A0A8M3B098
|
1698 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
kif1ab-201
(1)
|
Ensembl | 894 nt | ||
mRNA |
kif1ab-202
(1)
|
Ensembl | 5,551 nt |
Interactions and Pathways
No data available
Plasmids
No data available