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    PLK4 polo like kinase 4 [ Homo sapiens (human) ]

    Gene ID: 10733, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PLK4provided by HGNC
    Official Full Name
    polo like kinase 4provided by HGNC
    Primary source
    HGNC:HGNC:11397
    See related
    Ensembl:ENSG00000142731 MIM:605031; AllianceGenome:HGNC:11397
    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
    SAK; STK18; MCCRP2
    Summary
    This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. Three alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
    Expression
    Biased expression in testis (RPKM 12.2), bone marrow (RPKM 8.2) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLK4 in Genome Data Viewer
    Location:
    4q28.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (127880893..127899224)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (131183905..131202250)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (128802048..128820379)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene SOSS complex subunit C-like Neighboring gene heat shock protein family A (Hsp70) member 4 like Neighboring gene ribosomal protein L21 pseudogene 53 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:128767199-128767740 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21887 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73815 Neighboring gene RNA, U6 small nuclear 583, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73859 Neighboring gene major facilitator superfamily domain containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15676 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:128886145-128886760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:128887439-128887940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:128887941-128888440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15679 Neighboring gene abhydrolase domain containing 18 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73920 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73968 Neighboring gene H3K27ac hESC enhancers GRCh37_chr4:128981832-128982690 and GRCh37_chr4:128982691-128983549 Neighboring gene La ribonucleoprotein 1B Neighboring gene ribosomal protein L15 pseudogene 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. A theory of centriole duplication based on self-organized spatial pattern formation. Takao D, et al. J Cell Biol, 2019 Nov 4. PMID 31451615, Free PMC Article
    2. Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. Tsutsumi M, et al. Eur J Hum Genet, 2016 Dec. PMID 27650967, Free PMC Article
    3. Maternal common variant rs2305957 spanning PLK4 is associated with blastocyst formation and early recurrent miscarriage. Zhang Q, et al. Fertil Steril, 2017 Apr. PMID 28238495
    4. Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome. Dinçer T, et al. Eur J Hum Genet, 2017 Oct. PMID 28832566, Free PMC Article
    5. Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos. McCoy RC, et al. Hum Mol Genet, 2018 Jul 15. PMID 29688390, Free PMC Article

    See all (164) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CRL4[DCAF1] ubiquitin ligase regulates PLK4 protein levels to prevent premature centriole duplication.
      Title: CRL4(DCAF1) ubiquitin ligase regulates PLK4 protein levels to prevent premature centriole duplication.
    2. Polo-like kinase 4 promotes tumorigenesis and glucose metabolism in glioma by activating AKT1 signaling.
      Title: Polo-like kinase 4 promotes tumorigenesis and glucose metabolism in glioma by activating AKT1 signaling.
    3. PLK4 self-phosphorylation drives the selection of a single site for procentriole assembly.
      Title: PLK4 self-phosphorylation drives the selection of a single site for procentriole assembly.
    4. Centrosomal organization of Cep152 provides flexibility in Plk4 and procentriole positioning.
      Title: Centrosomal organization of Cep152 provides flexibility in Plk4 and procentriole positioning.
    5. NUAK1 governs centrosome replication in pancreatic cancer via MYPT1/PP1beta and GSK3beta-dependent regulation of PLK4.
      Title: NUAK1 governs centrosome replication in pancreatic cancer via MYPT1/PP1β and GSK3β-dependent regulation of PLK4.
    6. Architectural basis for cylindrical self-assembly governing Plk4-mediated centriole duplication in human cells.
      Title: Architectural basis for cylindrical self-assembly governing Plk4-mediated centriole duplication in human cells.
    7. Polo-like Kinase 4: the Variation During Therapy and its Relation to Treatment Response and Prognostic Risk Stratification in Childhood Acute Lymphoblastic Leukemia Patients.
      Title: Polo-like Kinase 4: the Variation During Therapy and its Relation to Treatment Response and Prognostic Risk Stratification in Childhood Acute Lymphoblastic Leukemia Patients.
    8. Downregulation of Polo-like kinase 4 induces cell apoptosis and G2/M arrest in acute myeloid leukemia.
      Title: Downregulation of Polo-like kinase 4 induces cell apoptosis and G2/M arrest in acute myeloid leukemia.
    9. Polo-like kinase 4 (Plk4) potentiates anoikis-resistance of p53KO mammary epithelial cells by inducing a hybrid EMT phenotype.
      Title: Polo-like kinase 4 (Plk4) potentiates anoikis-resistance of p53KO mammary epithelial cells by inducing a hybrid EMT phenotype.
    10. Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
      Title: Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
    Submit: New GeneRIF Correction See all GeneRIFs (116)

    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

    Associated conditions

    Description Tests
    Microcephaly and chorioretinopathy 2
    MedGen: C4015388 OMIM: 616171 GeneReviews: Not available
    		Compare labs

    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

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in centriole replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in centriole replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in centriole replication NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within positive regulation of centriole replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of centriole replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of centriole replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in trophoblast giant cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in XY body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cleavage furrow 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 deuterosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleolus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in procentriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of procentriole replication complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine/threonine-protein kinase PLK4
    Names
    Snk akin kinase
    serine/threonine-protein kinase 18
    serine/threonine-protein kinase Sak
    NP_001177728.1
    NP_001177730.1
    NP_055079.3
    XP_005262758.1
    XP_016863151.1
    XP_016863152.1
    XP_054204770.1
    XP_054204771.1
    XP_054204772.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_041821.1 RefSeqGene

      Range
      5033..23364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190799.2 → NP_001177728.1  serine/threonine-protein kinase PLK4 isoform 2

      See identical proteins and their annotated locations for NP_001177728.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate 5' coding exon, compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AI088969, AK303399, BU633758, DC402409
      Consensus CDS
      CCDS54803.1
      UniProtKB/TrEMBL
      J3KR84
      Related
      ENSP00000427554.1, ENST00000513090.5
      Conserved Domains (5) summary
      smart00220
      Location:12 → 233
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd13114
      Location:555 → 666
      POLO_box_Plk4_1; First (cryptic) polo-box domain (PBD) of polo-like kinase 4 (Plk4/Sak)
      cd13115
      Location:667 → 775
      POLO_box_Plk4_2; Second (cryptic) polo-box domain (PBD) of polo-like kinase 4 (Plk4/Sak)
      cd13116
      Location:852 → 931
      POLO_box_Plk4_3; C-terminal (third) polo-box domain (PBD) of polo-like kinase 4 (Plk4/Sak)
      cl21453
      Location:10 → 233
      PKc_like; Protein Kinases, catalytic domain

    2. NM_001190801.2 → NP_001177730.1  serine/threonine-protein kinase PLK4 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a different first exon, which results in the use of a in-frame downstream start codon, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AC107053, AI088969, AK302858, BC036023, BU633758
      Consensus CDS
      CCDS54804.1
      UniProtKB/TrEMBL
      J3KR84
      Related
      ENSP00000423582.1, ENST00000514379.5
      Conserved Domains (5) summary
      smart00220
      Location:1 → 224
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd13114
      Location:546 → 657
      POLO_box_Plk4_1; First (cryptic) polo-box domain (PBD) of polo-like kinase 4 (Plk4/Sak)
      cd13115
      Location:658 → 766
      POLO_box_Plk4_2; Second (cryptic) polo-box domain (PBD) of polo-like kinase 4 (Plk4/Sak)
      cd13116
      Location:843 → 922
      POLO_box_Plk4_3; C-terminal (third) polo-box domain (PBD) of polo-like kinase 4 (Plk4/Sak)
      cl21453
      Location:1 → 224
      PKc_like; Protein Kinases, catalytic domain

    3. NM_014264.5 → NP_055079.3  serine/threonine-protein kinase PLK4 isoform 1

      See identical proteins and their annotated locations for NP_055079.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
      Source sequence(s)
      AI088969, BC036023, BU633758
      Consensus CDS
      CCDS3735.1
      UniProtKB/Swiss-Prot
      B2RAL0, B7Z837, B7Z8G7, O00444, Q8IYF0, Q96Q95, Q9UD84, Q9UDE2
      UniProtKB/TrEMBL
      J3KR84
      Related
      ENSP00000270861.5, ENST00000270861.10
      Conserved Domains (5) summary
      smart00220
      Location:12 → 265
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd13114
      Location:587 → 698
      POLO_box_Plk4_1; First (cryptic) polo-box domain (PBD) of polo-like kinase 4 (Plk4/Sak)
      cd13115
      Location:699 → 807
      POLO_box_Plk4_2; Second (cryptic) polo-box domain (PBD) of polo-like kinase 4 (Plk4/Sak)
      cd13116
      Location:884 → 963
      POLO_box_Plk4_3; C-terminal (third) polo-box domain (PBD) of polo-like kinase 4 (Plk4/Sak)
      cd14186
      Location:10 → 265
      STKc_PLK4; Catalytic domain of the Serine/Threonine Kinase, Polo-like kinase 4

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      127880893..127899224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262701.4 → XP_005262758.1  serine/threonine-protein kinase PLK4 isoform X3

      UniProtKB/TrEMBL
      J3KR84
      Related
      ENSP00000423412.1, ENST00000507249.5
      Conserved Domains (5) summary
      smart00220
      Location:12 → 265
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd13114
      Location:553 → 664
      POLO_box_Plk4_1; First (cryptic) polo-box domain (PBD) of polo-like kinase 4 (Plk4/Sak)
      cd13115
      Location:665 → 773
      POLO_box_Plk4_2; Second (cryptic) polo-box domain (PBD) of polo-like kinase 4 (Plk4/Sak)
      cd13116
      Location:850 → 929
      POLO_box_Plk4_3; C-terminal (third) polo-box domain (PBD) of polo-like kinase 4 (Plk4/Sak)
      cd14186
      Location:10 → 265
      STKc_PLK4; Catalytic domain of the Serine/Threonine Kinase, Polo-like kinase 4

    2. XM_017007662.2 → XP_016863151.1  serine/threonine-protein kinase PLK4 isoform X1

      UniProtKB/TrEMBL
      J3KR84

    3. XM_017007663.3 → XP_016863152.1  serine/threonine-protein kinase PLK4 isoform X2

      UniProtKB/TrEMBL
      J3KR84

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      131183905..131202250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348797.1 → XP_054204772.1  serine/threonine-protein kinase PLK4 isoform X3

      UniProtKB/TrEMBL
      J3KR84

    2. XM_054348796.1 → XP_054204771.1  serine/threonine-protein kinase PLK4 isoform X2

      UniProtKB/TrEMBL
      J3KR84

    3. XM_054348795.1 → XP_054204770.1  serine/threonine-protein kinase PLK4 isoform X1

      UniProtKB/TrEMBL
      J3KR84
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00444.3 GenPept UniProtKB/Swiss-Prot:O00444

    Gene LinkOut

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