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

Summary

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 natural killer cell mediated cytotoxicity; positive regulation of protein localization to plasma membrane; and vesicle transport along microtubule. Located in centriolar satellite; cytosol; and vesicle. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 44.1), gall bladder (RPKM 42.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p11.22

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (32009015..32056425, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (32037647..32085426, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (32297943..32345353, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
Title: De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
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.
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.
Synergistic autoinhibition and activation mechanisms control kinesin-1 motor activity.
Title: Synergistic autoinhibition and activation mechanisms control kinesin-1 motor activity.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1308E (e-PCR)
- UniSTS:151340

A009Q24 (e-PCR)
- UniSTS:74818

RH11000 (e-PCR)
- UniSTS:11088

G32779 (e-PCR)
- UniSTS:117359

RH47155 (e-PCR)
- UniSTS:83825

HUM0S12E07 (e-PCR)
- UniSTS:57996

RH93349 (e-PCR)
- UniSTS:88977

SGC32704 (e-PCR)
- UniSTS:45481

G20497 (e-PCR)
- UniSTS:56762

A005U02 (e-PCR)
- UniSTS:56763

NoName (e-PCR)
- UniSTS:480457

WI-19195 (e-PCR)
- UniSTS:34272

G19439 (e-PCR)
- UniSTS:34273

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 more info	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 regulation of modification of synapse structure, modulating synaptic transmission	IEA Inferred from Electronic Annotation more info
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
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor 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 more info	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 postsynaptic cytosol	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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

32009015..32056425 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A8K048
XM_047425202.1 → XP_047281158.1 kinesin-1 heavy chain isoform X1

UniProtKB/Swiss-Prot

A0AVB2, P33176, Q5VZ85

UniProtKB/TrEMBL

A8K048, V9HW29

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

32037647..32085426 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A8K048
XM_054365845.1 → XP_054221820.1 kinesin-1 heavy chain isoform X1

UniProtKB/Swiss-Prot

A0AVB2, P33176, Q5VZ85

UniProtKB/TrEMBL

A8K048, V9HW29