KIF5A (kinesin family member 5A)

2011-08-01  

Identity

HGNC
LOCATION
12q13.3
LOCUSID
ALIAS
ALS25,D12S1889,MY050,NEIMY,NKHC,SPG10
FUSION GENES

Other Information

Locus ID:

NCBI: 3798
MIM: 602821
HGNC: 6323
Ensembl: ENSG00000155980

Variants:

dbSNP: 3798
ClinVar: 3798
TCGA: ENSG00000155980
COSMIC: KIF5A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155980ENST00000286452J3KNA1
ENSG00000155980ENST00000455537Q12840

Expression (GTEx)

0
500
1000
1500

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Insulin processingREACTOMER-HSA-264876
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
KinesinsREACTOMER-HSA-983189
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases activate KTN1REACTOMER-HSA-5625970
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-dependent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811434

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
383095082024A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.0
389276162024Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis.0
383095082024A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.0
389276162024Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis.0
365746892023Road-blocker HSP disease mutation disrupts pre-organization for ATP hydrolysis in kinesin through a second sphere control.0
373860822023A human proteogenomic-cellular framework identifies KIF5A as a modulator of astrocyte process integrity with relevance to ALS.1
375939232023Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis.0
377488612023ALS-Associated KIF5A Mutation Causes Locomotor Deficits Associated with Cytoplasmic Inclusions, Alterations of Neuromuscular Junctions, and Motor Neuron Loss.3
365746892023Road-blocker HSP disease mutation disrupts pre-organization for ATP hydrolysis in kinesin through a second sphere control.0
373860822023A human proteogenomic-cellular framework identifies KIF5A as a modulator of astrocyte process integrity with relevance to ALS.1
375939232023Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis.0
377488612023ALS-Associated KIF5A Mutation Causes Locomotor Deficits Associated with Cytoplasmic Inclusions, Alterations of Neuromuscular Junctions, and Motor Neuron Loss.3
353857382022ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.36
357351392022ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function.17
353857382022ALS-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/favicon/tumors-explorer/