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

Gene ID: 10733, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (127880893..127899224)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (131183905..131202250)
105.20220307 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: 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. Architectural basis for cylindrical self-assembly governing Plk4-mediated centriole duplication in human cells. Il Ahn J, et al. Commun Biol, 2023 Jul 11. PMID 37433832, Free PMC Article
  2. Downregulation of Polo-like kinase 4 induces cell apoptosis and G2/M arrest in acute myeloid leukemia. Chen S, et al. Pathol Res Pract, 2023 Mar. PMID 36821942
  3. Polo-like kinase 4 (Plk4) potentiates anoikis-resistance of p53KO mammary epithelial cells by inducing a hybrid EMT phenotype. Fonseca I, et al. Cell Death Dis, 2023 Feb 16. PMID 36797240, Free PMC Article
  4. Polo-like Kinase 4: the Variation During Therapy and its Relation to Treatment Response and Prognostic Risk Stratification in Childhood Acute Lymphoblastic Leukemia Patients. Xu J, et al. J Pediatr Hematol Oncol, 2023 May 1. PMID 35973104, Free PMC Article
  5. Downregulation of PLK4 expression induces apoptosis and G0/G1-phase cell cycle arrest in keloid fibroblasts. Huang RL, et al. Cell Prolif, 2022 Jul. PMID 35670224, Free PMC Article

See all (155) 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)

Genotypes

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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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_2023_10

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

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

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

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

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