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

Summary

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

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Centrosomal organization of Cep152 provides flexibility in Plk4 and procentriole positioning.
Title: Centrosomal organization of Cep152 provides flexibility in Plk4 and procentriole positioning.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HSCZYB062 (e-PCR)
- UniSTS:59653

SHGC-50513 (e-PCR)
- UniSTS:77102

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

EC 2.7.11.21

NP_001177730.1

EC 2.7.11.21

NP_055079.3

EC 2.7.11.21

XP_005262758.1

EC 2.7.11.21

XP_016863151.1

EC 2.7.11.21

XP_016863152.1

EC 2.7.11.21

XP_054204770.1

EC 2.7.11.21

XP_054204771.1

EC 2.7.11.21

XP_054204772.1

EC 2.7.11.21

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

NG_041821.1 RefSeqGene

Range

5033..23364

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

127880893..127899224

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

J3KR84
XM_017007663.3 → XP_016863152.1 serine/threonine-protein kinase PLK4 isoform X2

UniProtKB/TrEMBL

J3KR84

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

131183905..131202250

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

J3KR84
XM_054348796.1 → XP_054204771.1 serine/threonine-protein kinase PLK4 isoform X2

UniProtKB/TrEMBL

J3KR84
XM_054348795.1 → XP_054204770.1 serine/threonine-protein kinase PLK4 isoform X1

UniProtKB/TrEMBL

J3KR84