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    KIF5A kinesin family member 5A [ Homo sapiens ]

    Gene ID: 3798, updated on 4-Feb-2012
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    Summary

    Official Symbol
    KIF5Aprovided by HGNC
    Official Full Name
    kinesin family member 5Aprovided by HGNC
    Primary source
    HGNC:6323
    See related
    Ensembl:ENSG00000155980; HPRD:09108; MIM:602821; Vega:OTTHUMG00000170143
    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; MY050; 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]
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    Genomic context

    Location :
    12q13.13
    Sequence :
    Chromosome: 12; NC_000012.11 (57943847..57978554)
    See KIF5A in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene methyl-CpG binding domain protein 6 Neighboring gene dynactin 2 (p50) Neighboring gene phosphatidylinositol-5-phosphate 4-kinase, type II, gamma Neighboring gene deltex homolog 3 (Drosophila)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    2. Proteomic detection of cancer in asbestosis patients using SELDI-TOF discovered serum protein biomarkers. Tooker BC, et al. Biomarkers, 2011 Mar. PMID 21231887.
    3. A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. Musumeci O, et al. Neurol Sci, 2011 Aug. PMID 21107874.
    4. Genetic variants of connexin37 are associated with carotid intima-medial thickness and future onset of ischemic stroke. Leu HB, et al. Atherosclerosis, 2011 Jan. PMID 21044781.
    5. A human MAP kinase interactome. Bandyopadhyay S, et al. Nat Methods, 2010 Oct. PMID 20936779.

    See all (42) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Molecular genetic analysis identified a new missense mutation of KIF5A gene causing hereditary spastic paraplegia
      Title: A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.
    2. Kinesin (KIF5A) can be potentially used as a blood biomarker to identify asbestosis patients at risk of developing lung cancer.
      Title: Proteomic detection of cancer in asbestosis patients using SELDI-TOF discovered serum protein biomarkers.
    3. rs1678542 in KIF5A confers susceptibility for multiple sclerosis.
      Title: The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis.
    4. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: Genetic variants in the prediction of rheumatoid arthritis.
    7. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: The role of rheumatoid arthritis genetic susceptibility markers in the prediction of erosive disease in patients with early inflammatory polyarthritis: results from the Norfolk Arthritis Register.
    8. SPG10 mutations were found in 10% of our complicated forms of Hereditary spastic paraplegias (HSP), suggesting that mutations in KIF5A represent the major cause of complicated autosomal dominant hereditary spastic paraplegia in France.
      Title: Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
    9. In this study identified a novel missense mutation in KIF5A in an Italy family.
      Title: A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.
    10. The neck linker and the neck are involved not only in motility generation in general and in determination of movement direction, but also in velocity regulation.
      Title: The role of Kinesin neck linker and neck in velocity regulation.
    Submit: New GeneRIF Correction See all (16)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Common variants at CD40 and other loci confer risk of rheumatoid arthritis.

    Spastic paraplegia 10

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q12840 O60941 DTNB    HPRD  PubMed  
    Q12840 Q15811 ITSN1    HPRD  PubMed  
    Q12840 Q12840 KIF5A    HPRD  PubMed  
    Q12840 P33176 KIF5B    HPRD  PubMed  
    Q12840 Q6P597 KLC3    HPRD  PubMed  
    Q12840 Q15596 NCOA2    HPRD  PubMed  
    Q12840 Q13625 TP53BP2    HPRD  PubMed  
    BioGRID:109999 BioGRID:108171 DTNB    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:109999 BioGRID:120881 EXOC1    BioGRID  PubMed Two-hybrid 
    BioGRID:109999 BioGRID:112351 ITSN1    BioGRID  PubMed Two-hybrid 
    BioGRID:109999 BioGRID:115326 KCNE3    BioGRID  PubMed Two-hybrid 
    BioGRID:109999 BioGRID:110029 KLC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109999 BioGRID:122313 KLC2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109999 BioGRID:114838 MAP4K4    BioGRID  PubMed Two-hybrid 
    BioGRID:109999 BioGRID:111317 PIN1    BioGRID  PubMed Two-hybrid 
    BioGRID:109999 BioGRID:115045 RAPGEF2    BioGRID  PubMed Two-hybrid 
    BioGRID:109999 BioGRID:112490 SMN1    BioGRID  PubMed Two-hybrid 
    BioGRID:109999 BioGRID:112657 STAU1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109999 BioGRID:112938 TK1    BioGRID  PubMed Two-hybrid 
    BioGRID:109999 BioGRID:113012 TP53BP2    BioGRID  PubMed Two-hybrid 
    BioGRID:109999 BioGRID:113102 TSG101    BioGRID  PubMed Two-hybrid 
    BioGRID:109999 BioGRID:115684 YAP1    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Dopaminergic synapse, organism-specific biosystem (from KEGG)
      Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • Dopaminergic synapse, conserved biosystem (from KEGG)
      Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
      Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Kinesins, organism-specific biosystem (from REACTOME)
      Kinesins, organism-specific biosystemKinesins are a superfamily of microtubule-based motor proteins that have diverse functions in transport of vesicles, organelles and chromosomes, and regulate microtubule dynamics. There are 14 famil...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    microtubule motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    motor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
    		  
    cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    microtubule-based movement TAS
    Traceable Author Statement
    more info
    		  
    synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    kinesin complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    membrane fraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    kinesin heavy chain isoform 5A
    Names
    kinesin heavy chain isoform 5A
    KIF5A variant protein
    neuronal kinesin heavy chain
    kinesin heavy chain neuron-specific 1
    kinesin, heavy chain, neuron-specific
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    NCBI Reference Sequences (RefSeq)

    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
      5001..39708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AL118561, AL707807, BM930000, U06698
      Consensus CDS
      CCDS8945.1
      UniProtKB/Swiss-Prot
      Q12840
      Related
      ENSP00000408979, OTTHUMP00000243047, ENST00000455537, OTTHUMT00000407634
      Conserved Domains (3) summary
      cd01369
      Location:7 – 327
      Blast Score: 1455
      KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup. Members of this group have been associated with organelle transport. This catalytic (head) domain has ATPase activity and belongs to the larger group of P-loop NTPases. Kinesins are ...
      pfam04156
      Location:406 – 493
      Blast Score: 97
      IncA; IncA protein
      pfam12128
      Location:637 – 883
      Blast Score: 129
      DUF3584; Protein of unknown function (DUF3584)

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      57943847..57978554
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      54981745..55016257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC022506.38 (23315..58022) None
    genomic CH471054.1 EAW97030.1
    mRNA AB210045.1 BAE06127.1
    mRNA AB290174.1 BAG06728.1
    mRNA AF063608.1 AAG43166.1
    mRNA AK294881.1 BAH11913.1
    mRNA AK315202.1 BAG37640.1
    mRNA AL118561.1 None
    mRNA AL707807.1 None
    mRNA BC033961.2 None
    mRNA BC035285.1 None
    mRNA BC051752.1 None
    mRNA BC140009.1 AAI40010.1
    mRNA BC146670.1 AAI46671.1
    mRNA BC150208.1 AAI50209.1
    mRNA BM930000.1 None
    mRNA U06698.1 AAA20231.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    Q12840.2 GenPept UniProtKB/Swiss-Prot:Q12840
    Q9H3H7 GenPept UniProtKB/TrEMBL:Q9H3H7
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    Additional Links

    Additional Links

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

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      General information

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