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KIF6 kinesin family member 6 [ Homo sapiens (human) ]

Gene ID: 221458, updated on 3-Apr-2024

Summary

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Official Symbol
KIF6provided by HGNC
Official Full Name
kinesin family member 6provided by HGNC
Primary source
HGNC:HGNC:21202
See related
Ensembl:ENSG00000164627 MIM:613919; AllianceGenome:HGNC:21202
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
C6orf102; dJ137F1.4; dJ188D3.1; dJ1043E3.1
Summary
This gene encodes a member of a family of molecular motors which are involved in intracellular transport of protein complexes, membrane organelles, and messenger ribonucleic acid along microtubules. Kinesins function as homodimeric molecules with two N-terminal head domains that move along microtubules and two C-terminal tail domains that interact with the transported cargo, either directly or indirectly, through adapter molecules. This gene is ubiquitously expressed in coronary arteries and other vascular tissue. A naturally occurring mutation in this gene is associated with coronary heart disease. [provided by RefSeq, May 2017]
Expression
Biased expression in testis (RPKM 1.6), brain (RPKM 1.0) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
6p21.2
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (39329990..39725408, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (39154539..39549934, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (39297766..39693184, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24489 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:39271654-39271813 Neighboring gene uncharacterized LOC105375047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24491 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39307295-39307796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39311103-39311940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39312615-39313116 Neighboring gene potassium two pore domain channel subfamily K member 17 Neighboring gene uncharacterized LOC107986594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39321781-39322280 Neighboring gene potassium two pore domain channel subfamily K member 16 Neighboring gene ANKRD39 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:39384626-39385126 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:39422591-39423265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24494 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:39500871-39501060 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:39508271-39508448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39522677-39523579 Neighboring gene E2F transcription factor 4 pseudogene 1 Neighboring gene RNA, U1 small nuclear 54, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17167 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:39693187-39693518 Neighboring gene uncharacterized LOC124901487 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:39791936-39792496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39817294-39817794 Neighboring gene dishevelled associated activator of morphogenesis 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39832273-39832772 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:39855425-39856624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39864575-39865074 Neighboring gene DAAM2 antisense RNA 1

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. KIF6 Trp719Arg Genetic Variant Increases Risk for Thoracic Aortic Dissection. Velasco JJ, et al. Genes (Basel), 2023 Jan 18. PMID 36833179, Free PMC Article
  2. Impact of 719Trp>Arg Polymorphism of KIF 6 Gene on Contrast Induced Nephropathy in Patients Undergoing Coronary Angiography or Percutaneous Coronary Intervention. Barbieri L, et al. Glob Heart, 2022. PMID 35342690, Free PMC Article
  3. Association between KIF6 rs20455 polymorphism and the risk of coronary heart disease (CHD): a pooled analysis of 50 individual studies including 40,059 cases and 64,032 controls. Li Y, et al. Lipids Health Dis, 2018 Jan 5. PMID 29304815, Free PMC Article
  4. Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population. Angelini S, et al. Int J Mol Sci, 2017 Dec 24. PMID 29295555, Free PMC Article
  5. The Trp719Arg polymorphism of the KIF6 gene and coronary heart disease risk: systematic review and meta-analysis. Ruiz-Ramos D, et al. Hereditas, 2015. PMID 28096762, Free PMC Article

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Motor protein Kif6 regulates cilia motility and polarity in brain ependymal cells.
    Title: Motor protein Kif6 regulates cilia motility and polarity in brain ependymal cells.
  2. KIF6 Trp719Arg Genetic Variant Increases Risk for Thoracic Aortic Dissection.
    Title: KIF6 Trp719Arg Genetic Variant Increases Risk for Thoracic Aortic Dissection.
  3. Impact of 719Trp>Arg Polymorphism of KIF 6 Gene on Contrast Induced Nephropathy in Patients Undergoing Coronary Angiography or Percutaneous Coronary Intervention.
    Title: Impact of 719Trp>Arg Polymorphism of KIF 6 Gene on Contrast Induced Nephropathy in Patients Undergoing Coronary Angiography or Percutaneous Coronary Intervention.
  4. Are KIF6 and APOE polymorphisms associated with power and endurance athletes?
    Title: Are KIF6 and APOE polymorphisms associated with power and endurance athletes?
  5. The result suggests that KIF6 rs20455 polymorphism may not be associated with coronary heart disease susceptibility. (Meta-analysis)
    Title: Association between KIF6 rs20455 polymorphism and the risk of coronary heart disease (CHD): a pooled analysis of 50 individual studies including 40,059 cases and 64,032 controls.
  6. his represents the first study implicating KIF6 variants with obesity in men, and point to the possible involvement of this genetic locus in the known gender-related differences in coronary artery disease.
    Title: Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population.
  7. The Trp719Arg polymorphism of the KIF6 gene is an important risk factor for developing myocardial infarction and that allele 719Arg may have a protective association to present coronary heart disease in all populations [review; meta-analysis]
    Title: The Trp719Arg polymorphism of the KIF6 gene and coronary heart disease risk: systematic review and meta-analysis.
  8. The absence of Trp719Arg polymorphism association with coronary artery disease (CAD) and CAD in stratified myocardial infarction cases indicates that the polymorphism is not associated with an increased risk among CAD patients from the Eastern Province of Saudi Arabia
    Title: Investigation of KIF6 Trp719Arg gene polymorphism in a case-control study of coronary artery disease and non-fatal myocardial infarction in the Eastern Province of Saudi Arabia.
  9. KIF6 polymorphism rs20455 had a significant association with Coronary Heart Disease; statin therapy was more effective in rs20455 carriers than non-carriers
    Title: Impact of KIF6 Polymorphism rs20455 on Coronary Heart Disease Risk and Effectiveness of Statin Therapy in 100 Patients from Southern Iran.
  10. KIF6 719Arg allele may increase the risk of T2DM and T2DM + CHD only in Han Chinese men by modulating lipid metabolism.
    Title: Novel KIF6 polymorphism increases susceptibility to type 2 diabetes mellitus and coronary heart disease in Han Chinese men.
Submit: New GeneRIF Correction See all GeneRIFs (41)

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
Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
EBI GWAS Catalog
Genome-wide association study of antibody response to smallpox vaccine.
EBI GWAS Catalog
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC33317, DKFZp451I2418

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 microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
part_of kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
kinesin-like protein KIF6

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_054928.1 RefSeqGene

    Range
    5017..400435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001289020.3 → NP_001275949.1  kinesin-like protein KIF6 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AK123217, AK131471, AL136087, AL161439, BC143444, BX649045, DB080579
    UniProtKB/TrEMBL
    B7ZKX5
    Conserved Domains (2) summary
    cl22853
    Location:5 → 343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11 → 345
    Kinesin; Kinesin motor domain

  2. NM_001289021.3 → NP_001275950.1  kinesin-like protein KIF6 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AK123217, AL136087, AL161439, BC117307, BX649045, DB080579
    UniProtKB/TrEMBL
    Q17RI8
    Conserved Domains (2) summary
    cl22853
    Location:5 → 343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11 → 345
    Kinesin; Kinesin motor domain

  3. NM_001289024.3 → NP_001275953.1  kinesin-like protein KIF6 isoform 4

    See identical proteins and their annotated locations for NP_001275953.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon and initiates translation at a downstrean start codon, compared to variant 1. It encodes isoform 4, which has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK123217, AL136087, AL160161, BC022074, DA167995
    Consensus CDS
    CCDS75449.1
    UniProtKB/TrEMBL
    Q2MDE8
    Related
    ENSP00000229913.5, ENST00000229913.9
    Conserved Domains (1) summary
    cl25732
    Location:25 → 119
    SMC_N; RecF/RecN/SMC N terminal domain

  4. NM_001351503.2 → NP_001338432.1  kinesin-like protein KIF6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks a portion of the 3' coding region, contains an alternate 3' terminal exon, and differs in the 3' UTR, compared to variant 1. It encodes isoform 6 which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL161439
    Conserved Domains (1) summary
    cl22853
    Location:5 → 84
    Motor_domain; Myosin and Kinesin motor domain

  5. NM_001351566.2 → NP_001338495.1  kinesin-like protein KIF6 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains alternate 5' and 3' terminal exons and initiates translation at a downstrean start codon, compared to variant 1. It encodes isoform 5, which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL136087, AL160161, BC098418
    Consensus CDS
    CCDS87392.1
    UniProtKB/TrEMBL
    F6VGH2, Q4KMP8
    Related
    ENSP00000441435.2, ENST00000538893.5
    Conserved Domains (1) summary
    cl25732
    Location:25 → 119
    SMC_N; RecF/RecN/SMC N terminal domain

  6. NM_145027.6 → NP_659464.3  kinesin-like protein KIF6 isoform 1

    See identical proteins and their annotated locations for NP_659464.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK123217, AK131471, AL136087, AL161439, AL832634, BX649045
    Consensus CDS
    CCDS4844.1
    UniProtKB/Swiss-Prot
    Q2MDE3, Q2MDE4, Q5T8J6, Q6ZMV9, Q6ZWE3, Q86T87, Q8WTV4
    UniProtKB/TrEMBL
    B7ZKX5
    Related
    ENSP00000287152.7, ENST00000287152.12
    Conserved Domains (2) summary
    cl22853
    Location:5 → 343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11 → 345
    Kinesin; Kinesin motor domain

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    39329990..39725408 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418330.1 → XP_047274286.1  kinesin-like protein KIF6 isoform X4

  2. XM_011514357.4 → XP_011512659.1  kinesin-like protein KIF6 isoform X2

    UniProtKB/TrEMBL
    B7ZKX5
    Conserved Domains (2) summary
    cl22853
    Location:5 → 343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11 → 345
    Kinesin; Kinesin motor domain

  3. XM_011514358.4 → XP_011512660.1  kinesin-like protein KIF6 isoform X3

    UniProtKB/TrEMBL
    B7ZKX5
    Conserved Domains (2) summary
    cl22853
    Location:5 → 343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11 → 345
    Kinesin; Kinesin motor domain

  4. XM_005248904.5 → XP_005248961.1  kinesin-like protein KIF6 isoform X1

    UniProtKB/TrEMBL
    B7ZKX5
    Conserved Domains (2) summary
    cl22853
    Location:5 → 343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11 → 345
    Kinesin; Kinesin motor domain

  5. XM_047418331.1 → XP_047274287.1  kinesin-like protein KIF6 isoform X5

  6. XM_011514361.3 → XP_011512663.1  kinesin-like protein KIF6 isoform X6

    Conserved Domains (2) summary
    cl22853
    Location:5 → 343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11 → 345
    Kinesin; Kinesin motor domain

RNA

  1. XR_001743238.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    39154539..39549934 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354576.1 → XP_054210551.1  kinesin-like protein KIF6 isoform X8

  2. XM_054354574.1 → XP_054210549.1  kinesin-like protein KIF6 isoform X7

  3. XM_054354572.1 → XP_054210547.1  kinesin-like protein KIF6 isoform X2

  4. XM_054354571.1 → XP_054210546.1  kinesin-like protein KIF6 isoform X1

  5. XM_054354577.1 → XP_054210552.1  kinesin-like protein KIF6 isoform X5

  6. XM_054354575.1 → XP_054210550.1  kinesin-like protein KIF6 isoform X4

  7. XM_054354573.1 → XP_054210548.1  kinesin-like protein KIF6 isoform X3

RNA

  1. XR_008487278.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZMV9.3 GenPept UniProtKB/Swiss-Prot:Q6ZMV9

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