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Aliases for PLK4 Gene

Aliases for PLK4 Gene

  • Polo Like Kinase 4 2 3 5
  • Serine/Threonine-Protein Kinase Sak 3 4
  • Serine/Threonine-Protein Kinase 18 3 4
  • Polo-Like Kinase 4 2 4
  • STK18 3 4
  • SAK 3 4
  • Serine/Threonine-Protein Kinase PLK4 3
  • Polo-Like Kinase 4 (Drosophila) 2
  • Serine/Threonine Kinase 18 2
  • Snk Akin Kinase 3
  • EC 2.7.11.21 4
  • MCCRP2 3
  • PLK-4 4

External Ids for PLK4 Gene

Previous HGNC Symbols for PLK4 Gene

  • STK18

Previous GeneCards Identifiers for PLK4 Gene

  • GC04P129260
  • GC04P129159
  • GC04P129021
  • GC04P128802
  • GC04P124529

Summaries for PLK4 Gene

Entrez Gene Summary for PLK4 Gene

  • 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]

GeneCards Summary for PLK4 Gene

PLK4 (Polo Like Kinase 4) is a Protein Coding gene. Diseases associated with PLK4 include Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 and Seckel Syndrome 1. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. GO annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is PLK3.

UniProtKB/Swiss-Prot for PLK4 Gene

  • Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CENPJ/CPAP, CCP110, CEP135 and gamma-tubulin. When overexpressed, it is able to induce centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole during S phase. Phosphorylates Ser-151 of FBXW5 during the G1/S transition, leading to inhibit FBXW5 ability to ubiquitinate SASS6. Its central role in centriole replication suggests a possible role in tumorigenesis, centrosome aberrations being frequently observed in tumors. Also involved in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Also involved in trophoblast differentiation by phosphorylating HAND1, leading to disrupt the interaction between HAND1 and MDFIC and activate HAND1. Phosphorylates CDC25C and CHEK2. Required for the recruitment of STIL to the centriole and for STIL-mediated centriole amplification (PubMed:22020124).

Gene Wiki entry for PLK4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLK4 Gene

Genomics for PLK4 Gene

Regulatory Elements for PLK4 Gene

Enhancers for PLK4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F128383 1.6 FANTOM5 Ensembl ENCODE 11.3 +505.4 505414 5.9 PKNOX1 SIN3A FEZF1 ZNF2 GLIS2 FOS JUNB TSHZ1 REST SMARCB1 LOC100507487 PLK4 PGRMC2 GC04P128333 LOC101927259
GH04F128598 1.3 Ensembl ENCODE 11.3 +719.9 719852 4.1 PKNOX1 ATF1 ARNT MLX ZFP64 ARID4B SIN3A YY1 ZNF548 FOS ENSG00000248802 PLK4 JADE1 ENSG00000248187
GH04F128681 1.1 Ensembl ENCODE 11.3 +803.0 803046 4.4 PTRF ETS1 KLF13 CEBPB HDAC8 CREB3 MEF2D SMARCA4 KDM1A ZNF24 PLK4 PIR52869 ENSG00000248802
GH04F127856 1 Ensembl ENCODE 11.2 -23.9 -23917 1.7 TBP PKNOX1 SIN3A BMI1 EBF1 ZBTB40 CBX5 POLR2A CREM MTA2 PLK4 RNU6-583P INTU ABHD18 ENSG00000261668
GH04F128686 0.9 ENCODE 11.3 +805.4 805440 0.2 CBX3 ARNT PTRF CHAMP1 CBX5 GATA2 KLF13 CEBPB ZEB2 HDAC8 PLK4 PIR52869 ENSG00000248802
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLK4 on UCSC Golden Path with GeneCards custom track

Promoters for PLK4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001249292 140 2400 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143 ZNF207

Genomic Location for PLK4 Gene

Chromosome:
4
Start:
127,880,861 bp from pter
End:
127,899,224 bp from pter
Size:
18,364 bases
Orientation:
Plus strand

Genomic View for PLK4 Gene

Genes around PLK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLK4 Gene

Proteins for PLK4 Gene

  • Protein details for PLK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00444-PLK4_HUMAN
    Recommended name:
    Serine/threonine-protein kinase PLK4
    Protein Accession:
    O00444
    Secondary Accessions:
    • B2RAL0
    • B7Z837
    • B7Z8G7
    • Q8IYF0
    • Q96Q95
    • Q9UD84
    • Q9UDE2

    Protein attributes for PLK4 Gene

    Size:
    970 amino acids
    Molecular mass:
    108972 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with CEP152 (via N-terminus). Interacts with CEP78; this interaction may be important for proper PLK4 localization to the centriole and PLK4-induced overduplication of centrioles (PubMed:27246242).

    Three dimensional structures from OCA and Proteopedia for PLK4 Gene

    Alternative splice isoforms for PLK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLK4 Gene

Post-translational modifications for PLK4 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PLK4 (PLK4)
  • Abcam antibodies for PLK4
  • Santa Cruz Biotechnology (SCBT) Antibodies for PLK4

No data available for DME Specific Peptides for PLK4 Gene

Domains & Families for PLK4 Gene

Gene Families for PLK4 Gene

Suggested Antigen Peptide Sequences for PLK4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00444

UniProtKB/Swiss-Prot:

PLK4_HUMAN :
  • Contains 1 POLO box domain.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC5/Polo subfamily.
Domain:
  • Contains 1 POLO box domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC5/Polo subfamily.
genes like me logo Genes that share domains with PLK4: view

Function for PLK4 Gene

Molecular function for PLK4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CENPJ/CPAP, CCP110, CEP135 and gamma-tubulin. When overexpressed, it is able to induce centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole during S phase. Phosphorylates Ser-151 of FBXW5 during the G1/S transition, leading to inhibit FBXW5 ability to ubiquitinate SASS6. Its central role in centriole replication suggests a possible role in tumorigenesis, centrosome aberrations being frequently observed in tumors. Also involved in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Also involved in trophoblast differentiation by phosphorylating HAND1, leading to disrupt the interaction between HAND1 and MDFIC and activate HAND1. Phosphorylates CDC25C and CHEK2. Required for the recruitment of STIL to the centriole and for STIL-mediated centriole amplification (PubMed:22020124).
UniProtKB/Swiss-Prot Induction:
Down-regulated in HCT 116 colorectal cancer cells, leading to aberrant centrioles composed of disorganized cylindrical microtubules and displaced appendages. Down-regulated by p53/TP53.

Enzyme Numbers (IUBMB) for PLK4 Gene

Gene Ontology (GO) - Molecular Function for PLK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA,ISS --
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with PLK4: view
genes like me logo Genes that share phenotypes with PLK4: view

Human Phenotype Ontology for PLK4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLK4 Gene

MGI Knock Outs for PLK4:

Animal Model Products

miRNA for PLK4 Gene

miRTarBase miRNAs that target PLK4

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PLK4 Gene

Localization for PLK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLK4 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Nucleus, nucleolus. Cleavage furrow. Note=Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Associates with centrioles throughout the cell cycle. According to PubMed:16244668, it is not present at cleavage furrows.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLK4 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 1

Gene Ontology (GO) - Cellular Components for PLK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001741 XY body IEA --
GO:0005634 nucleus IEA --
GO:0005730 nucleolus ISS --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
genes like me logo Genes that share ontologies with PLK4: view

Pathways & Interactions for PLK4 Gene

genes like me logo Genes that share pathways with PLK4: view

Pathways by source for PLK4 Gene

1 KEGG pathway for PLK4 Gene
1 Qiagen pathway for PLK4 Gene

SIGNOR curated interactions for PLK4 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PLK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006468 protein phosphorylation IEA --
GO:0007099 centriole replication IEA,IMP 21725316
GO:0016310 phosphorylation IEA --
GO:0046601 positive regulation of centriole replication IMP 16244668
genes like me logo Genes that share ontologies with PLK4: view

Drugs & Compounds for PLK4 Gene

(8) Drugs for PLK4 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
GSK461364 Pharma Plk1 inhibitor, Kinase Inhibitors, Polo-like kinase inhibitor 0
HMN-214 Pharma Plk inhibitor,broad-spectrum anti-tumor agent 0
MLN0905 Pharma Potent PLK1 inhibitor 0
NMS-1286937 Pharma Kinase Inhibitors 0

(2) Additional Compounds for PLK4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(4) ApexBio Compounds for PLK4 Gene

Compound Action Cas Number
GSK461364 Plk1 inhibitor 929095-18-1
HMN-214 Plk inhibitor,broad-spectrum anti-tumor agent 173529-46-9
MLN0905 Potent PLK1 inhibitor 1228960-69-7
NMS-1286937 1034616-18-6
genes like me logo Genes that share compounds with PLK4: view

Transcripts for PLK4 Gene

Unigene Clusters for PLK4 Gene

Polo-like kinase 4:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLK4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1:
SP2:
SP3: -
SP4: -
SP5:
SP6: -

Relevant External Links for PLK4 Gene

GeneLoc Exon Structure for
PLK4
ECgene alternative splicing isoforms for
PLK4

Expression for PLK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLK4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLK4 Gene

This gene is overexpressed in Testis (x8.1).

Protein differential expression in normal tissues from HIPED for PLK4 Gene

This gene is overexpressed in Breast (30.3), Cervix (27.7), and Pancreatic juice (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLK4 Gene



Protein tissue co-expression partners for PLK4 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLK4 Gene:

PLK4

SOURCE GeneReport for Unigene cluster for PLK4 Gene:

Hs.172052
genes like me logo Genes that share expression patterns with PLK4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PLK4 Gene

Orthologs for PLK4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PLK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLK4 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia PLK4 34 35
  • 91.96 (n)
cow
(Bos Taurus)
Mammalia PLK4 34 35
  • 91.59 (n)
rat
(Rattus norvegicus)
Mammalia Plk4 34
  • 85.33 (n)
mouse
(Mus musculus)
Mammalia Plk4 34 16 35
  • 85.25 (n)
oppossum
(Monodelphis domestica)
Mammalia PLK4 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLK4 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC422497 34
  • 71.24 (n)
PLK4 35
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLK4 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plk4 34
  • 66.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68791 34
zebrafish
(Danio rerio)
Actinopterygii plk4 34 35
  • 58.55 (n)
Dr.11503 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9557 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012499 34
  • 55.34 (n)
fruit fly
(Drosophila melanogaster)
Insecta SAK 34 35
  • 52 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC5 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3490 35
  • 37 (a)
OneToOne
Species where no ortholog for PLK4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLK4 Gene

ENSEMBL:
Gene Tree for PLK4 (if available)
TreeFam:
Gene Tree for PLK4 (if available)

Paralogs for PLK4 Gene

Variants for PLK4 Gene

Sequence variations from dbSNP and Humsavar for PLK4 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs724159995 Pathogenic 127,898,434(+) CTTCA(C/G)TTAGG intron-variant
rs724159996 Pathogenic 127,886,669(+) TTCTT(-/TAAAG)AAAAG intron-variant, reference, frameshift-variant
rs56414190 Uncertain significance 127,891,202(+) GTAAT(A/G)TGTAG intron-variant
rs879255691 Uncertain significance 127,883,336(+) CAATT(-/GAAACATCCTTCT)ATCTT intron-variant, reference, frameshift-variant
rs11098941 -- 127,889,762(+) CTAGA(A/T)TTCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLK4 Gene

Variant ID Type Subtype PubMed ID
dgv5385n100 CNV gain 25217958
nsv1019193 CNV loss 25217958

Variation tolerance for PLK4 Gene

Residual Variation Intolerance Score: 25.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.08; 38.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLK4 Gene

Human Gene Mutation Database (HGMD)
PLK4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLK4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLK4 Gene

Disorders for PLK4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PLK4 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PLK4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLK4_HUMAN
  • Microcephaly and chorioretinopathy, autosomal recessive, 2 (MCCRP2) [MIM:616171]: A severe disorder characterized by microcephaly, delayed psychomotor development, growth retardation with dwarfism, and ocular abnormalities. {ECO:0000269 PubMed:25344692}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PLK4

Genetic Association Database (GAD)
PLK4
Human Genome Epidemiology (HuGE) Navigator
PLK4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLK4
genes like me logo Genes that share disorders with PLK4: view

No data available for Genatlas for PLK4 Gene

Publications for PLK4 Gene

  1. SAK, a new polo-like kinase, is transcriptionally repressed by p53 and induces apoptosis upon RNAi silencing. (PMID: 15967108) Li J. … Sun Y. (Neoplasia 2005) 3 4 22 64
  2. SAK/PLK4 is required for centriole duplication and flagella development. (PMID: 16326102) Bettencourt-Dias M. … Glover D.M. (Curr. Biol. 2005) 3 4 22 64
  3. Sak serine-threonine kinase acts as an effector of Tec tyrosine kinase. (PMID: 11489907) Yamashita Y. … Mano H. (J. Biol. Chem. 2001) 3 4 22 64
  4. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. (PMID: 25344692) Martin C.A. … Jackson A.P. (Nat. Genet. 2014) 3 4 64
  5. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson J.E. … Couch F.J. (Breast Cancer Res. Treat. 2011) 3 46 64

Products for PLK4 Gene

Sources for PLK4 Gene

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