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KIF5B kinesin family member 5B [ Homo sapiens (human) ]

Gene ID: 3799, updated on 3-Apr-2024

Summary

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Official Symbol
KIF5Bprovided by HGNC
Official Full Name
kinesin family member 5Bprovided by HGNC
Primary source
HGNC:HGNC:6324
See related
Ensembl:ENSG00000170759 MIM:602809; AllianceGenome:HGNC:6324
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KNS; KINH; KNS1; UKHC; HEL-S-61
Summary
Enables identical protein binding activity; microtubule binding activity; and microtubule motor activity. Involved in several processes, including lysosome localization; natural killer cell mediated cytotoxicity; and positive regulation of protein localization to plasma membrane. Located in centriolar satellite; cytosol; and vesicle. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 44.1), gall bladder (RPKM 42.8) and 25 other tissues See more
Orthologs
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Genomic context

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See KIF5B in Genome Data Viewer
Location:
10p11.22
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (32009015..32056425, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (32037647..32085426, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (32297943..32345353, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984219 Neighboring gene uncharacterized LOC105376485 Neighboring gene ribosomal protein L34 pseudogene 19 Neighboring gene RNA, 7SL, cytoplasmic 825, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:32291606-32292421 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:32306942-32308141 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:32337050-32338249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2281 Neighboring gene ribosomal protein S4X pseudogene 11 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:32411889-32412388 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:32428165-32428894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2283 Neighboring gene Sharpr-MPRA regulatory region 14665 Neighboring gene RNA, U7 small nuclear 22 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes. Flex E, et al. Hum Mol Genet, 2023 Jan 13. PMID 36018820, Free PMC Article
  2. Synergistic autoinhibition and activation mechanisms control kinesin-1 motor activity. Chiba K, et al. Cell Rep, 2022 May 31. PMID 35649356, Free PMC Article
  3. De novo heterozygous variants in KIF5B cause kyphomelic dysplasia. Itai T, et al. Clin Genet, 2022 Jul. PMID 35342932
  4. Motor usage imprints microtubule stability along the shaft. Andreu-Carbó M, et al. Dev Cell, 2022 Jan 10. PMID 34883065
  5. How Kinesin-1 Utilize the Energy of Nucleotide: The Conformational Changes and Mechanochemical Coupling in the Unidirectional Motion of Kinesin-1. Qin J, et al. Int J Mol Sci, 2020 Sep 22. PMID 32972035, Free PMC Article

See all (218) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
    Title: Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
  2. BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.
    Title: BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.
  3. Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
    Title: Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
  4. De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
    Title: De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
  5. Identification of novel early pancreatic cancer biomarkers KIF5B and SFRP2 from ""first contact"" interactions in the tumor microenvironment.
    Title: Identification of novel early pancreatic cancer biomarkers KIF5B and SFRP2 from "first contact" interactions in the tumor microenvironment.
  6. JIP3 interacts with dynein and kinesin-1 to regulate bidirectional organelle transport.
    Title: JIP3 interacts with dynein and kinesin-1 to regulate bidirectional organelle transport.
  7. Synergistic autoinhibition and activation mechanisms control kinesin-1 motor activity.
    Title: Synergistic autoinhibition and activation mechanisms control kinesin-1 motor activity.
  8. Quantitative Proteomics Reveals Association of Neuron Projection Development Genes ARF4, KIF5B, and RAB8A With Hirschsprung Disease.
    Title: Quantitative Proteomics Reveals Association of Neuron Projection Development Genes ARF4, KIF5B, and RAB8A With Hirschsprung Disease.
  9. Distinct Clinicopathologic Features and Possible Pathogenesis of Localized ALK-positive Histiocytosis of the Breast.
    Title: Distinct Clinicopathologic Features and Possible Pathogenesis of Localized ALK-positive Histiocytosis of the Breast.
  10. Motor usage imprints microtubule stability along the shaft.
    Title: Motor usage imprints microtubule stability along the shaft.
Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association of mood-incongruent psychotic bipolar disorder.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
HIV-1 CA relocalizes RANBP2 (NUP358) into the cytoplasm of infected cells, which requires CPSF6 and KIF5B PubMed

Protein interactions

Protein Gene Interaction Pubs
capsid gag HIV-1 CA requires CPSF6 and KIF5B to relocalize RANBP2 (NUP358) into the cytoplasm of infected cells PubMed
gag HIV-1 uncoating is facilitated by dynein motor function since siRNA knockdown of KIF5B increases the amount of HIV-1 p24 associated with cytoplasmic virions PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cadherin binding HDA PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables microtubule motor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables microtubule motor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables plus-end-directed microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in anterograde axonal protein transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in anterograde dendritic transport of neurotransmitter receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in anterograde neuronal dense core vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to type II interferon IEA
Inferred from Electronic Annotation
more info
  
involved_in centrosome localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cytoplasm organization IEA
Inferred from Electronic Annotation
more info
  
involved_in lysosome localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in microtubule-based movement TAS
Traceable Author Statement
more info
 PubMed 
involved_in mitochondrion transport along microtubule IEA
Inferred from Electronic Annotation
more info
  
involved_in mitocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in natural killer cell mediated cytotoxicity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in plus-end-directed vesicle transport along microtubule IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of potassium ion transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of synaptic transmission, GABAergic IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of membrane potential IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retrograde neuronal dense core vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in stress granule disassembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in synaptic vesicle transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vesicle transport along microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vesicle transport along microtubule ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
  
located_in ciliary rootlet IEA
Inferred from Electronic Annotation
more info
  
located_in cytolytic granule membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in dendrite cytoplasm IEA
Inferred from Electronic Annotation
more info
  
part_of kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane HDA PubMed 
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in phagocytic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
kinesin-1 heavy chain
Names
conventional kinesin heavy chain
epididymis secretory protein Li 61
kinesin 1 (110-120kD)
kinesin heavy chain
ubiquitous 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.

mRNA and Protein(s)

  1. NM_004521.3 → NP_004512.1  kinesin-1 heavy chain

    See identical proteins and their annotated locations for NP_004512.1

    Status: VALIDATED

    Source sequence(s)
    AL161932, BC065267, BP361225, BU633712, DC399931, X65873
    Consensus CDS
    CCDS7171.1
    UniProtKB/Swiss-Prot
    A0AVB2, P33176, Q5VZ85
    UniProtKB/TrEMBL
    A8K048, V9HW29
    Related
    ENSP00000307078.4, ENST00000302418.5
    Conserved Domains (3) summary
    COG4372
    Location:730 → 922
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
    TIGR02168
    Location:414 → 803
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd01369
    Location:6 → 325
    KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    32009015..32056425 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425203.1 → XP_047281159.1  kinesin-1 heavy chain isoform X2

  2. XM_047425202.1 → XP_047281158.1  kinesin-1 heavy chain isoform X1

    UniProtKB/Swiss-Prot
    A0AVB2, P33176, Q5VZ85
    UniProtKB/TrEMBL
    V9HW29

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    32037647..32085426 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365846.1 → XP_054221821.1  kinesin-1 heavy chain isoform X2

  2. XM_054365845.1 → XP_054221820.1  kinesin-1 heavy chain isoform X1

    UniProtKB/Swiss-Prot
    A0AVB2, P33176, Q5VZ85
    UniProtKB/TrEMBL
    V9HW29
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P33176.1 GenPept UniProtKB/Swiss-Prot:P33176

Gene LinkOut

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