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Kif5a kinesin family member 5A [ Mus musculus (house mouse) ]

Gene ID: 16572, updated on 27-Nov-2024

Summary

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Official Symbol
Kif5aprovided by MGI
Official Full Name
kinesin family member 5Aprovided by MGI
Primary source
MGI:MGI:109564
See related
Ensembl:ENSMUSG00000074657 AllianceGenome:MGI:109564
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Khc; Kns; Kif5; mKIAA4086; D10Bwg0738e
Summary
Enables kinesin binding activity and microtubule binding activity. Involved in anterograde dendritic transport of neurotransmitter receptor complex and vesicle-mediated transport. Located in several cellular components, including ciliary rootlet; neuron projection; and neuronal cell body. Is active in postsynaptic cytosol. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 25; hereditary spastic paraplegia 10; multiple sclerosis; prostate cancer; and rheumatoid arthritis. Orthologous to human KIF5A (kinesin family member 5A). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in cortex adult (RPKM 286.9), frontal lobe adult (RPKM 199.5) and 4 other tissues See more
Orthologs
human all
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Genomic context

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See Kif5a in Genome Data Viewer
Location:
10 D3; 10 74.5 cM
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (127061564..127102217, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (127225695..127266348, complement)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA F420014N23 gene Neighboring gene deltex 3, E3 ubiquitin ligase Neighboring gene phosphatidylinositol-5-phosphate 4-kinase, type II, gamma Neighboring gene STARR-seq mESC enhancer starr_28215 Neighboring gene STARR-positive B cell enhancer ABC_E9810 Neighboring gene predicted gene, 40800 Neighboring gene dynactin 2 Neighboring gene STARR-positive B cell enhancer ABC_E10652 Neighboring gene STARR-positive B cell enhancer ABC_E1410 Neighboring gene STARR-positive B cell enhancer ABC_E6939 Neighboring gene methyl-CpG binding domain protein 6 Neighboring gene DNA-damage inducible transcript 3 Neighboring gene methionine-tRNA synthetase 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:126748829-126749012

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A. Xia CH, et al. J Cell Biol, 2003 Apr 14. PMID 12682084, Free PMC Article
  2. Tight functional coupling of kinesin-1A and dynein motors in the bidirectional transport of neurofilaments. Uchida A, et al. Mol Biol Cell, 2009 Dec. PMID 19812246, Free PMC Article
  3. Impaired motor unit recovery and maintenance in a knock-in mouse model of ALS-associated Kif5a variant. Rich KA, et al. Neurobiol Dis, 2023 Jun 15. PMID 37164288, Free PMC Article
  4. An ALS-associated KIF5A mutant forms oligomers and aggregates and induces neuronal toxicity. Nakano J, et al. Genes Cells, 2022 Jun. PMID 35430760, Free PMC Article
  5. KIF5A-dependent axonal transport deficiency disrupts autophagic flux in trimethyltin chloride-induced neurotoxicity. Liu M, et al. Autophagy, 2021 Apr. PMID 32160081, Free PMC Article

See all (92) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.
    Title: Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.
  2. Activation of TLR7-mediated autophagy increases epileptic susceptibility via reduced KIF5A-dependent GABAA receptor transport in a murine model.
    Title: Activation of TLR7-mediated autophagy increases epileptic susceptibility via reduced KIF5A-dependent GABA(A) receptor transport in a murine model.
  3. Impaired motor unit recovery and maintenance in a knock-in mouse model of ALS-associated Kif5a variant.
    Title: Impaired motor unit recovery and maintenance in a knock-in mouse model of ALS-associated Kif5a variant.
  4. An ALS-associated KIF5A mutant forms oligomers and aggregates and induces neuronal toxicity.
    Title: An ALS-associated KIF5A mutant forms oligomers and aggregates and induces neuronal toxicity.
  5. Quantitative transportomics identifies Kif5a as a major regulator of neurodegeneration.
    Title: Quantitative transportomics identifies Kif5a as a major regulator of neurodegeneration.
  6. KIF5A-dependent axonal transport deficiency disrupts autophagic flux in trimethyltin chloride-induced neurotoxicity.
    Title: KIF5A-dependent axonal transport deficiency disrupts autophagic flux in trimethyltin chloride-induced neurotoxicity.
  7. The association between PSD-95 and KIF5A was dose-dependent on Staufen protein.
    Title: Postsynaptic density protein 95 (PSD-95) is transported by KIF5 to dendritic regions.
  8. Downregulation of KIF5A mimics Abeta-induced axonal mitochondrial transport deficits, indicating a potential role of KIF5A deficiency in Alzheimer disease-relevant axonal mitochondrial traffic abnormalities.
    Title: Amyloid beta-mediated KIF5A deficiency disrupts anterograde axonal mitochondrial movement.
  9. The authors concluded that kinesin-1 proteins KIF5A, -5B, and -5C are important in the anterograde transport of the majority of herpes simplex virus enveloped virions in neuronal axons and kinesin-3 proteins are less important.
    Title: Kinesin-1 Proteins KIF5A, -5B, and -5C Promote Anterograde Transport of Herpes Simplex Virus Enveloped Virions in Axons.
  10. These results support our hypothesis that KIF5A is responsible for collagen transportation and secretion from HPMCs.
    Title: KIF5A transports collagen vesicles of myofibroblasts during pleural fibrosis.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (6) 
  • Targeted (6)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA4086

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables kinesin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables microtubule motor activity TAS
Traceable Author Statement
more info
 PubMed 
enables plus-end-directed microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
  
enables scaffold protein binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in anterograde axonal protein transport ISO
Inferred from Sequence Orthology
more info
  
involved_in anterograde axonal protein transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in anterograde dendritic transport of neurotransmitter receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in anterograde dendritic transport of neurotransmitter receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in anterograde dendritic transport of neurotransmitter receptor complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde neuronal dense core vesicle transport ISO
Inferred from Sequence Orthology
more info
  
involved_in synaptic vesicle transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vesicle-mediated transport IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in P-body ISO
Inferred from Sequence Orthology
more info
  
located_in apical dendrite ISO
Inferred from Sequence Orthology
more info
  
located_in axon ISO
Inferred from Sequence Orthology
more info
  
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in central region of growth cone ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary rootlet IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in dendrite ISO
Inferred from Sequence Orthology
more info
  
located_in dendrite cytoplasm IEA
Inferred from Electronic Annotation
more info
  
part_of kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of kinesin complex ISO
Inferred from Sequence Orthology
more info
  
part_of kinesin complex TAS
Traceable Author Statement
more info
 PubMed 
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in microtubule ISO
Inferred from Sequence Orthology
more info
  
located_in neuron projection IDA
Inferred from Direct Assay
more info
 PubMed 
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
located_in perikaryon ISO
Inferred from Sequence Orthology
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in postsynaptic cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in postsynaptic cytosol IEP
Inferred from Expression Pattern
more info
 PubMed 
is_active_in postsynaptic cytosol IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
kinesin heavy chain isoform 5A; kinesin heavy chain
Names
NKHC
kinesin heavy chain neuron-specific 1
neuronal kinesin heavy chain

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001039000.4 → NP_001034089.1  kinesin heavy chain isoform 5A

    See identical proteins and their annotated locations for NP_001034089.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer and the predominant transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK140769, AK147707, BC028563, BC058396
    Consensus CDS
    CCDS24233.1
    UniProtKB/Swiss-Prot
    P33175, Q5DTP1, Q6PDY7, Q9Z2F9
    Related
    ENSMUSP00000096775.4, ENSMUST00000099172.5
    Conserved Domains (3) summary
    COG1196
    Location:412 → 759
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd01369
    Location:7 → 327
    KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup
    pfam17380
    Location:630 → 902
    DUF5401; Family of unknown function (DUF5401)

  2. NM_008447.4 → NP_032473.2  kinesin heavy chain isoform 5A

    See identical proteins and their annotated locations for NP_032473.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC144852, AK140769, BC058396
    Consensus CDS
    CCDS24233.1
    UniProtKB/Swiss-Prot
    P33175, Q5DTP1, Q6PDY7, Q9Z2F9
    Related
    ENSMUSP00000151402.2, ENSMUST00000217895.2
    Conserved Domains (3) summary
    COG1196
    Location:412 → 759
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd01369
    Location:7 → 327
    KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup
    pfam17380
    Location:630 → 902
    DUF5401; Family of unknown function (DUF5401)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    127061564..127102217 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030244919.1 → XP_030100779.1  kinesin heavy chain isoform X1

    UniProtKB/Swiss-Prot
    P33175, Q5DTP1, Q6PDY7, Q9Z2F9
    Conserved Domains (3) summary
    COG1196
    Location:412 → 759
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd01369
    Location:7 → 327
    KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup
    pfam17380
    Location:630 → 902
    DUF5401; Family of unknown function (DUF5401)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P33175.3 GenPept UniProtKB/Swiss-Prot:P33175

Gene LinkOut

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