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

Gene ID: 3798, updated on 1-Aug-2020

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
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

Genomic context

See KIF5A in Genome Data Viewer
Location:
12q13.3
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57550039..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

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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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 axonal protein transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde dendritic transport of neurotransmitter receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
membrane HDA PubMed 
microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
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
neuronal kinesin heavy chain

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
    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
    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_004984.4NP_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
    Q12840
    Related
    ENSP00000408979.2, ENST00000455537.7
    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 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    57550039..57586633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002957324.1 RNA Sequence

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