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

    Gene ID: 221458, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See KIF6 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (39329990..39725408, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (39154539..39549934, complement)
    RS_2024_09 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. [Motor protein Kinesin-6 and ischemic heart disease]. Koroleva OS, et al. Kardiologiia, 2010. PMID 20659029
    2. [Association of a polymorphic marker Trp719Arg of KIF6 gene with effects of atorvastatin and simvastatin in patients with early ischemic heart disease]. Koroleva OS, et al. Kardiologiia, 2011. PMID 21943003
    3. Motor protein Kif6 regulates cilia motility and polarity in brain ependymal cells. Takagishi M, et al. Dis Model Mech, 2024 Feb 1. PMID 38235522, Free PMC Article
    4. A common KIF6 polymorphism increases vulnerability to low-density lipoprotein cholesterol: two meta-analyses and a meta-regression analysis. Ference BA, et al. PLoS One, 2011. PMID 22216121, Free PMC Article
    5. Investigation of KIF6 Trp719Arg in a case-control study of coronary artery disease in Western Indians. Bhanushali AA, et al. Genet Test Mol Biomarkers, 2011 Dec. PMID 21810021

    See all (61) 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)

    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
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    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_2024_08

    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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