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

    Gene ID: 3798, updated on 16-Apr-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
    mouse all
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    Genomic context

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    Location:
    12q13.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57550044..57586633)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57518283..57554872)
    105.20220307 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
    • 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. A human proteogenomic-cellular framework identifies KIF5A as a modulator of astrocyte process integrity with relevance to ALS. Szebényi K, et al. Commun Biol, 2023 Jun 29. PMID 37386082, Free PMC Article
    2. Road-blocker HSP disease mutation disrupts pre-organization for ATP hydrolysis in kinesin through a second sphere control. Manna RN, et al. Proc Natl Acad Sci U S A, 2023 Jan 3. PMID 36574689, Free PMC Article
    3. ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function. Pant DC, et al. EMBO Rep, 2022 Aug 3. PMID 35735139, Free PMC Article
    4. ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function. Baron DM, et al. Cell Rep, 2022 Apr 5. PMID 35385738, Free PMC Article
    5. Genotype-phenotype correlations of KIF5A stalk domain variants. de Boer EMJ, et al. Amyotroph Lateral Scler Frontotemporal Degener, 2021 Nov. PMID 33829936

    See all (115) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. Genotype-phenotype correlations of KIF5A stalk domain variants.
      Title: Genotype-phenotype correlations of KIF5A stalk domain variants.
    10. A novel KIF5a mutation identified in two-family members with spastic paraplegia type 10.
      Title: A novel KIF5a mutation identified in two-family members with spastic paraplegia type 10.
    Submit: New GeneRIF Correction See all GeneRIFs (58)

    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
    		  
    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 synapse 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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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