Recombinant Human Kinesin-like protein KIF1A (KIF1A), partial

1. We report a child with a de novo KIF1A gene mutation who was found to have bilateral optic nerve hypoplasia and atrophy. PMID: 28985824
2. BORC and Arl8 function upstream of two structurally distinct kinesin types: kinesin-1 (KIF5B) and kinesin-3 (KIF1Bbeta and KIF1A). PMID: 27851960
3. De novo missense variant affecting the motor domain of KIF1A was identified as a cause of PEHO syndrome. PMID: 26486474
4. Mutations outside the motor domain of the gene can cause (recessive) SPG30 and extends the genotype-phenotype association for KIF1A-related diseases. PMID: 28332297
5. This study further delineates clinical features of de novo KIF1A mutations PMID: 26354034
6. KIF1A variants in dominant and sporadic forms of hereditary spastic paraparesis. PMID: 26410750
7. KIF1A should be considered a candidate gene for hereditary paraplegias regardless of inheritance pattern. PMID: 25585697
8. Findings provide evidence that de novo missense mutations in the motor domain of KIF1A cause a more severe phenotype that overlaps with that associated with recessive mutations in the same gene. PMID: 25265257
9. Data demonstrated that KIF1A promoter methylation can distinguish breast cancer cases from controls in plasma and was inversely associated with DNA repair capacity. PMID: 24927296
10. This study establishes an essential role of the CC1-FHA dimer for KIF1A/unc-104-mediated neuronal transport. PMID: 23669038
11. Cytoplasmic dynein is active during minus- and plus-end directed motion, whereas kinesin is only active in the plus direction. PMID: 23404705
12. The CC1-FHA tandem likely functions as a hub for controlling the dimerization and activation of KIF1A. PMID: 22863567
13. mutations in the KIF1A gene are responsible for SPG30 in two autosomal recessive HSP families PMID: 22258533
14. The authors find that Arl8B is required for kinesin-1 recruitment to Salmonella-containing vacuoles, migration of the vacuoles to the cell periphery 24 h after infection and for cell-to-cell transfer of bacteria to neighbouring cells. PMID: 21824248
15. Mutations in KIF1A are a rare cause of hereditary sensory and autonomic neuropathy type 2. PMID: 21820098
16. A mutation in KIF1A is associated with a pure form of hereditary spastic paraparesis. (HSP) cases in a single inbred family. PMID: 21487076
17. Promoter hypermethylation of KIF1A and EDNRB is a frequent event in primary HNSCC, and these genes are preferentially methylated in salivary rinses from HNSCC patients. PMID: 20162572
18. KIF1A mediates neuronal transport at a high velocity and processivity in vivo PMID: 12435738
19. Results suggest that the intramolecular FHA-CC2 interaction negatively regulates KIF1A activity by inhibiting MT binding and dimerization of KIF1A, and point to a novel role of the FHA domain in the regulation of kinesin motors. PMID: 15014437
20. cryo-electron microscopy structures of the monomeric kinesin KIF1A-microtubule complex in two nucleotide states at about 10 A resolution, sufficient to reveal the secondary structure PMID: 16946706

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HGNC: 888

OMIM: 601255

KEGG: hsa:547

STRING: 9606.ENSP00000322791

UniGene: Hs.516802