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

    Gene ID: 3798, updated on 22-Apr-2017
    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; 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; 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]
    Orthologs
    Location:
    12q13.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (57550064..57584771)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57943812..57980416)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes 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 phosphatidylinositol-5-phosphate 4-kinase type 2 gamma Neighboring gene deltex E3 ubiquitin ligase 3

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    MYOCLONUS, INTRACTABLE, NEONATAL
    MedGen: CN239547 OMIM: 617235 GeneReviews: Not available
    Compare labs
    Spastic paraplegia 10
    MedGen: C1858712 OMIM: 604187 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
    NHGRI GWA Catalog
    Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
    NHGRI GWA Catalog
    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
      COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER is mediated in part by microtubule-directed COPI-coated vesicles (Letourneur et al, 1994; Shima et al, 1999; Spang et al, 1998; reviewed i...
    • 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...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • 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...
    • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
      Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
    • 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...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Insulin processing, organism-specific biosystem (from REACTOME)
      Insulin processing, organism-specific biosystemThe generation of insulin-containing secretory granules from proinsulin in the lumen of the endoplasmic reticulum (ER) can be described in 4 steps: formation of intramolecular disulfide bonds, format...
    • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
      Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
    • 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...
    • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
      MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
      Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases activate KTN1, organism-specific biosystem (from REACTOME)
      RHO GTPases activate KTN1, organism-specific biosystemGTP-bound active forms of RHO GTPases RHOA, RHOG, RAC1 and CDC42 bind kinectin (KTN1), a protein inserted in endoplasmic reticulum membranes that interacts with the cargo-binding site of kinesin and ...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent microtubule motor activity, plus-end-directed IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    kinesin binding IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule binding IEA
    Inferred from Electronic Annotation
    more info
     
    motor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    anterograde dendritic transport of neurotransmitter receptor complex IEA
    Inferred from Electronic Annotation
    more info
     
    antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
    Traceable Author Statement
    more info
     
    axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoskeleton-dependent intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    microtubule-based movement TAS
    Traceable Author Statement
    more info
     
    protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    retrograde vesicle-mediated transport, Golgi to ER TAS
    Traceable Author Statement
    more info
     
    vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    ciliary rootlet IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendrite cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    kinesin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    kinesin heavy chain isoform 5A
    Names
    KIF5A variant protein
    kinesin heavy chain neuron-specific 1
    kinesin, heavy chain, neuron-specific
    neuronal kinesin heavy chain

    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_004984.2NP_004975.2  kinesin heavy chain isoform 5A

      See identical proteins and their annotated locations for NP_004975.2

      Status: REVIEWED

      Source sequence(s)
      AL118561, AL707807, BM930000, U06698
      Consensus CDS
      CCDS8945.1
      UniProtKB/Swiss-Prot
      Q12840
      Related
      ENSP00000408979.2, OTTHUMP00000243047, ENST00000455537.6, OTTHUMT00000407634
      Conserved Domains (5) summary
      smart00129
      Location:9334
      KISc; Kinesin motor, catalytic domain. ATPase
      cd14798
      Location:441493
      RX-CC_like; Coiled-coil domain of the potato virux X resistance protein and similar proteins
      cd01369
      Location:7327
      KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup
      pfam05010
      Location:713884
      TACC; Transforming acidic coiled-coil-containing protein (TACC)
      cl12013
      Location:694809
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      57550064..57584771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      57911685..57946386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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