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

Gene ID: 3798, updated on 14-Jun-2018
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; 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
See KIF5A in Genome Data Viewer
Location:
12q13.3
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (57549992..57586633)
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
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
MedGen: CN895594 OMIM: 617921 GeneReviews: Not available
not available
Myoclonus, intractable, neonatal
MedGen: C4310658 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
PubMed 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinesin binding IEA
Inferred from Electronic Annotation
more info
 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
cytoskeleton-dependent intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule-based movement TAS
Traceable Author Statement
more info
 
retrograde neuronal dense core vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
retrograde vesicle-mediated transport, Golgi to ER TAS
Traceable Author Statement
more info
 
synaptic vesicle transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinesin complex TAS
Traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
microtubule IBA
Inferred from Biological aspect of Ancestor
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
    4929..41570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC022506, AK294881, CB243285
    Consensus CDS
    CCDS86312.1
    Related
    ENSP00000286452.5, ENST00000286452.5
    Conserved Domains (3) summary
    COG5059
    Location:37463
    KIP1; Kinesin-like protein [Cytoskeleton]
    cl22853
    Location:7238
    Motor_domain; Myosin and Kinesin motor domain
    cl25732
    Location:323670
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_004984.3NP_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
    Q12840
    Related
    ENSP00000408979.2, OTTHUMP00000243047, ENST00000455537.6
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    57549992..57586633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002957324.1 RNA Sequence

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