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

Gene ID: 3798, updated on 4-Jan-2025

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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57550044..57586633)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57518283..57554872)
RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding  
enables ATP hydrolysis activity  
enables cytoskeletal motor activity PubMed 
enables kinesin binding  
enables microtubule binding  
enables plus-end-directed microtubule motor activity  
enables protein binding PubMed 
Process Evidence Code Pubs
involved_in anterograde axonal protein transport  
involved_in anterograde dendritic transport of neurotransmitter receptor complex  
involved_in axon guidance  
involved_in chemical synaptic transmission PubMed 
involved_in microtubule-based movement PubMed 
involved_in retrograde neuronal dense core vesicle transport  
involved_in synaptic vesicle transport  
involved_in vesicle-mediated transport  
Component Evidence Code Pubs
located_in axon cytoplasm  
located_in ciliary rootlet  
is_active_in cytoplasm  
located_in cytosol  
located_in dendrite cytoplasm  
part_of kinesin complex  
located_in membrane PubMed 
is_active_in microtubule  
located_in perikaryon  
located_in perinuclear region of cytoplasm  
located_in postsynaptic cytosol  

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)

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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_2024_08

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)

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