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    KIF24 kinesin family member 24 [ Homo sapiens (human) ]

    Gene ID: 347240, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KIF24provided by HGNC
    Official Full Name
    kinesin family member 24provided by HGNC
    Primary source
    HGNC:HGNC:19916
    See related
    Ensembl:ENSG00000186638 MIM:613747; AllianceGenome:HGNC:19916
    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
    C9orf48; bA571F15.4
    Summary
    This gene encodes a member of the kinesin superfamily of microtubule-based motor proteins which are involved in the intracellular transport of membranous organelles, protein complexes, and mRNAs. They also play critical roles in mitosis, morphogenesis, and signal transduction. The encoded protein contains an N-terminal sterile alpha motif (SAM) domain and an ATP-binding kinesin motor domain. It binds centriolar coiled coil protein 110 and centrosomal protein 97 and localizes to the mother centriole to regulate ciliogenesis by controlling microtubule polymerization. [provided by RefSeq, Mar 2017]
    Expression
    Broad expression in testis (RPKM 7.5), bone marrow (RPKM 4.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIF24 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34252380..34333671, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34271317..34378395, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34252378..34329266, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ubiquitin associated protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 282 Neighboring gene MPRA-validated peak7226 silencer Neighboring gene ribosomal protein S8 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19843 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:34254397-34255596 Neighboring gene RNA, U2 small nuclear 50, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34318623-34319288 Neighboring gene serpin family H member 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28307 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:34329280-34329787 Neighboring gene nudix hydrolase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34371826-34372326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34372327-34372827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34375663-34376244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34376245-34376825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34380811-34381416 Neighboring gene uncharacterized LOC124902144 Neighboring gene myogenesis regulating glycosidase Neighboring gene sperm microtubule inner protein 6

    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. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia. Reilly ML, et al. J Bone Miner Res, 2022 Sep. PMID 35748595, Free PMC Article
    2. Kinesin family deregulation coordinated by bromodomain protein ANCCA and histone methyltransferase MLL for breast cancer cell growth, survival, and tamoxifen resistance. Zou JX, et al. Mol Cancer Res, 2014 Apr. PMID 24391143, Free PMC Article
    3. Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration? Venturelli E, et al. Neurosci Lett, 2010 Oct 4. PMID 20670673
    4. Nek2 activation of Kif24 ensures cilium disassembly during the cell cycle. Kim S, et al. Nat Commun, 2015 Aug 20. PMID 26290419, Free PMC Article
    5. Centriolar kinesin Kif24 interacts with CP110 to remodel microtubules and regulate ciliogenesis. Kobayashi T, et al. Cell, 2011 Jun 10. PMID 21620453

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
      Title: Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
    2. Kif24 is a physiological substrate of Nek2, which regulates cilia disassembly through a concerted mechanism involving Kif24-mediated microtubule depolymerization.
      Title: Nek2 activation of Kif24 ensures cilium disassembly during the cell cycle.
    3. Study found that loss of Kif24 leads to the disappearance of CP110 from mother centrioles in cycling cells able to form cilia; thus, identifying a centriolar kinesin that specifically remodels a subset of microtubules, thereby regulating cilia assembly.
      Title: Centriolar kinesin Kif24 interacts with CP110 to remodel microtubules and regulate ciliogenesis.
    4. KIF24 rs17350674 polymorphism likely acts as a risk factor for sporadic Lobar Degeneration
      Title: Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • FLJ10933, FLJ43884, MGC125677, MGC125678

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables microtubule binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule motor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule depolymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule depolymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in microtubule-based movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kinesin-like protein KIF24

    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_053094.1 RefSeqGene

      Range
      8705..85593
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_194313.4 → NP_919289.2  kinesin-like protein KIF24

      See identical proteins and their annotated locations for NP_919289.2

      Status: REVIEWED

      Source sequence(s)
      AK125180, AL353662, BC110502, BE856625, BF895212, BP871643, BU660279, DA906271, DT932659, DV080193, DV080194, HY066968
      Consensus CDS
      CCDS6551.2
      UniProtKB/Swiss-Prot
      Q2TB93, Q5T7B5, Q5T7B7, Q5T7B8, Q6ZU97, Q6ZUZ2, Q86XZ0, Q9NV43
      Related
      ENSP00000384433.1, ENST00000402558.7
      Conserved Domains (3) summary
      cd09541
      Location:3 → 62
      SAM_KIF24-like; SAM domain of KIF24-like subfamily
      cd01367
      Location:223 → 544
      KISc_KIF2_like; Kinesin motor domain, KIF2-like group
      pfam00225
      Location:229 → 545
      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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      34252380..34333671 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517863.4 → XP_011516165.1  kinesin-like protein KIF24 isoform X2

      See identical proteins and their annotated locations for XP_011516165.1

      UniProtKB/Swiss-Prot
      Q2TB93, Q5T7B5, Q5T7B7, Q5T7B8, Q6ZU97, Q6ZUZ2, Q86XZ0, Q9NV43
      Conserved Domains (3) summary
      cd09541
      Location:3 → 62
      SAM_KIF24-like; SAM domain of KIF24-like subfamily
      cd01367
      Location:223 → 544
      KISc_KIF2_like; Kinesin motor domain, KIF2-like group
      pfam00225
      Location:229 → 545
      Kinesin; Kinesin motor domain

    2. XM_047423343.1 → XP_047279299.1  kinesin-like protein KIF24 isoform X5

      Related
      ENSP00000368472.3, ENST00000379174.7

    3. XM_047423340.1 → XP_047279296.1  kinesin-like protein KIF24 isoform X3

    4. XM_047423342.1 → XP_047279298.1  kinesin-like protein KIF24 isoform X4

    5. XM_011517861.3 → XP_011516163.1  kinesin-like protein KIF24 isoform X1

      See identical proteins and their annotated locations for XP_011516163.1

      Conserved Domains (3) summary
      cd09541
      Location:34 → 93
      SAM_KIF24-like; SAM domain of KIF24-like subfamily
      cd01367
      Location:254 → 575
      KISc_KIF2_like; Kinesin motor domain, KIF2-like group
      pfam00225
      Location:260 → 576
      Kinesin; Kinesin motor domain

    6. XM_017014697.3 → XP_016870186.1  kinesin-like protein KIF24 isoform X2

      UniProtKB/Swiss-Prot
      Q2TB93, Q5T7B5, Q5T7B7, Q5T7B8, Q6ZU97, Q6ZUZ2, Q86XZ0, Q9NV43
      Conserved Domains (3) summary
      cd09541
      Location:3 → 62
      SAM_KIF24-like; SAM domain of KIF24-like subfamily
      cd01367
      Location:223 → 544
      KISc_KIF2_like; Kinesin motor domain, KIF2-like group
      pfam00225
      Location:229 → 545
      Kinesin; Kinesin motor domain

    7. XM_047423345.1 → XP_047279301.1  kinesin-like protein KIF24 isoform X7

    8. XM_047423344.1 → XP_047279300.1  kinesin-like protein KIF24 isoform X6

    9. XM_006716764.4 → XP_006716827.1  kinesin-like protein KIF24 isoform X8

      Conserved Domains (1) summary
      cl22853
      Location:47 → 86
      Motor_domain; Myosin and Kinesin motor domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      34271317..34378395 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362910.1 → XP_054218885.1  kinesin-like protein KIF24 isoform X2

    2. XM_054362914.1 → XP_054218889.1  kinesin-like protein KIF24 isoform X5

    3. XM_054362912.1 → XP_054218887.1  kinesin-like protein KIF24 isoform X3

    4. XM_054362913.1 → XP_054218888.1  kinesin-like protein KIF24 isoform X4

    5. XM_054362909.1 → XP_054218884.1  kinesin-like protein KIF24 isoform X1

    6. XM_054362911.1 → XP_054218886.1  kinesin-like protein KIF24 isoform X2

    7. XM_054362916.1 → XP_054218891.1  kinesin-like protein KIF24 isoform X7

    8. XM_054362915.1 → XP_054218890.1  kinesin-like protein KIF24 isoform X6

    9. XM_054362917.1 → XP_054218892.1  kinesin-like protein KIF24 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T7B8.2 GenPept UniProtKB/Swiss-Prot:Q5T7B8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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