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

    Gene ID: 3798, updated on 5-May-2024

    Summary

    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
    NEW
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    Genomic context

    See KIF5A in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001354705.2NP_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:323670
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:548795
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl22853
      Location:7238
      Motor_domain; Myosin and Kinesin motor domain
    2. NM_004984.4NP_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:412759
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01369
      Location:7327
      KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup
      pfam17380
      Location:630902
      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.