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KIF5A kinesin family member 5A [ Homo sapiens (human) ]

Gene ID: 3798, updated on 3-Nov-2024

Summary

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Official Symbol
KIF5Aprovided by HGNC
Official Full Name
kinesin family member 5Aprovided by HGNC
Primary source
HGNC:HGNC:6323
See related
Ensembl:ENSG00000155980 MIM:602821; AllianceGenome:HGNC:6323
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NKHC; ALS25; MY050; NEIMY; SPG10; D12S1889
Summary
This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 141.3) and adrenal (RPKM 5.1) See more
Orthologs
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Genomic context

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See KIF5A in Genome Data Viewer
Location:
12q13.3
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57550044..57586633)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57518283..57554872)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57943827..57980416)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC128125814 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:57913133-57914094 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:57914069-57915268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57916016-57916975 Neighboring gene DNA damage inducible transcript 3 Neighboring gene microRNA 616 Neighboring gene methyl-CpG binding domain protein 6 Neighboring gene dynactin subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57944162-57944754 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57955995-57956161 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57956855-57957072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6549 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:57984713-57985214 Neighboring gene phosphatidylinositol-5-phosphate 4-kinase type 2 gamma Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57997977-57998488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57998489-57999001 Neighboring gene deltex E3 ubiquitin ligase 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations. Nam DE, et al. Genes Genomics, 2018 Jan. PMID 29892902
  2. KIF5A and the contribution of susceptibility genotypes as a predictive biomarker for multiple sclerosis. Hares K, et al. J Neurol, 2021 Jun. PMID 33484325, Free PMC Article
  3. A novel KIF5a mutation identified in two-family members with spastic paraplegia type 10. Oliveira R, et al. Rev Neurol (Paris), 2021 Jan-Feb. PMID 33272564
  4. Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2. Du K, et al. Clin Neuropathol, 2021 May-Jun. PMID 33155544
  5. Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis. Naruse H, et al. Neurogenetics, 2021 Mar. PMID 32815063

See all (129) 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. Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis.
    Title: Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis.
  3. A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.
    Title: A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.
  4. ALS-Associated KIF5A Mutation Causes Locomotor Deficits Associated with Cytoplasmic Inclusions, Alterations of Neuromuscular Junctions, and Motor Neuron Loss.
    Title: ALS-Associated KIF5A Mutation Causes Locomotor Deficits Associated with Cytoplasmic Inclusions, Alterations of Neuromuscular Junctions, and Motor Neuron Loss.
  5. Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis.
    Title: Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis.
  6. A human proteogenomic-cellular framework identifies KIF5A as a modulator of astrocyte process integrity with relevance to ALS.
    Title: A human proteogenomic-cellular framework identifies KIF5A as a modulator of astrocyte process integrity with relevance to ALS.
  7. Road-blocker HSP disease mutation disrupts pre-organization for ATP hydrolysis in kinesin through a second sphere control.
    Title: Road-blocker HSP disease mutation disrupts pre-organization for ATP hydrolysis in kinesin through a second sphere control.
  8. ALS-linked KIF5A DeltaExon27 mutant causes neuronal toxicity through gain-of-function.
    Title: ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function.
  9. ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
    Title: ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
  10. Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2.
    Title: Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2.
Submit: New GeneRIF Correction See all GeneRIFs (60)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Amyotrophic lateral sclerosis, susceptibility to, 25
MedGen: C4693609 OMIM: 617921 GeneReviews: Not available
Compare labs
Hereditary spastic paraplegia 10
MedGen: C1858712 OMIM: 604187 GeneReviews: Not available
Compare labs
Myoclonus, intractable, neonatal
MedGen: C4310658 OMIM: 617235 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
EBI GWAS Catalog
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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 cytoskeletal motor activity TAS
Traceable Author Statement
more info
 PubMed 
enables kinesin binding IEA
Inferred from Electronic Annotation
more info
  
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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 
Process Evidence Code Pubs
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 axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
 PubMed 
involved_in microtubule-based movement TAS
Traceable Author Statement
more info
 PubMed 
involved_in retrograde neuronal dense core vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in synaptic vesicle transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary rootlet IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
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
  
located_in membrane HDA PubMed 
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic cytosol IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
kinesin heavy chain isoform 5A
Names
KIF5A variant protein
kinesin heavy chain neuron-specific 1
kinesin, heavy chain, neuron-specific
neuron-specific kinesin heavy chain
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.

Genomic

  1. NG_008155.1 RefSeqGene

    Range
    4981..41570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001354705.2 → NP_001341634.1  kinesin heavy chain isoform 5A isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC022506, AK294881, CB243285
    Consensus CDS
    CCDS86312.1
    UniProtKB/TrEMBL
    B7Z2M7, J3KNA1
    Related
    ENSP00000286452.5, ENST00000286452.5
    Conserved Domains (3) summary
    COG1196
    Location:323 → 670
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:548 → 795
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl22853
    Location:7 → 238
    Motor_domain; Myosin and Kinesin motor domain

  2. NM_004984.4 → NP_004975.2  kinesin heavy chain isoform 5A isoform 1

    See identical proteins and their annotated locations for NP_004975.2

    Status: REVIEWED

    Source sequence(s)
    AC022506, AL118561, AL707807, BM930000, CB243285, U06698
    Consensus CDS
    CCDS8945.1
    UniProtKB/Swiss-Prot
    A6H8M5, Q12840, Q4LE26
    UniProtKB/TrEMBL
    A0A6Q8PGJ3
    Related
    ENSP00000408979.2, ENST00000455537.7
    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_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    57550044..57586633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57518283..57554872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032624.1: Suppressed sequence

    Description
    NM_032624.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q12840.2 GenPept UniProtKB/Swiss-Prot:Q12840

Gene LinkOut

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