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

Summary

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

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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Quantitative transportomics identifies Kif5a as a major regulator of neurodegeneration.
Title: Quantitative transportomics identifies Kif5a as a major regulator of neurodegeneration.
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.
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.
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.
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.
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

NoName (e-PCR)
- UniSTS:225332

NoName (e-PCR)
- UniSTS:224635

Kif5a (e-PCR), detects polymorphism
- UniSTS:507010

D10Bwg0738e (e-PCR), detects polymorphism
- UniSTS:141492

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)

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)
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

NC_000076.7 Reference GRCm39 C57BL/6J

Range

127061564..127102217 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)