Identity
HGNC
LOCATION
12q13.3
LOCUSID
ALIAS
ALS25,D12S1889,MY050,NEIMY,NKHC,SPG10
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3798
MIM: 602821
HGNC: 6323
Ensembl: ENSG00000155980
Variants:
dbSNP: 3798
ClinVar: 3798
TCGA: ENSG00000155980
COSMIC: KIF5A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000155980 | ENST00000286452 | J3KNA1 |
| ENSG00000155980 | ENST00000455537 | Q12840 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38309508 | 2024 | A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A. | 0 |
| 38927616 | 2024 | Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis. | 0 |
| 38309508 | 2024 | A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A. | 0 |
| 38927616 | 2024 | Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis. | 0 |
| 36574689 | 2023 | Road-blocker HSP disease mutation disrupts pre-organization for ATP hydrolysis in kinesin through a second sphere control. | 0 |
| 37386082 | 2023 | A human proteogenomic-cellular framework identifies KIF5A as a modulator of astrocyte process integrity with relevance to ALS. | 1 |
| 37593923 | 2023 | Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis. | 0 |
| 37748861 | 2023 | ALS-Associated KIF5A Mutation Causes Locomotor Deficits Associated with Cytoplasmic Inclusions, Alterations of Neuromuscular Junctions, and Motor Neuron Loss. | 3 |
| 36574689 | 2023 | Road-blocker HSP disease mutation disrupts pre-organization for ATP hydrolysis in kinesin through a second sphere control. | 0 |
| 37386082 | 2023 | A human proteogenomic-cellular framework identifies KIF5A as a modulator of astrocyte process integrity with relevance to ALS. | 1 |
| 37593923 | 2023 | Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis. | 0 |
| 37748861 | 2023 | ALS-Associated KIF5A Mutation Causes Locomotor Deficits Associated with Cytoplasmic Inclusions, Alterations of Neuromuscular Junctions, and Motor Neuron Loss. | 3 |
| 35385738 | 2022 | ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function. | 36 |
| 35735139 | 2022 | ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function. | 17 |
| 35385738 | 2022 | ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function. | 36 |
Citation
Dessen P
KIF5A (kinesin family member 5A)
Atlas Genet Cytogenet Oncol Haematol. 2011-08-01
Online version: http://atlasgeneticsoncology.org/gene/52351/kif5a-(kinesin-family-member-5a)
