PDK4 pyruvate dehydrogenase kinase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PDK4provided by HGNC
Official Full Name: pyruvate dehydrogenase kinase 4provided by HGNC
Primary source: HGNC:HGNC:8812
See related: Ensembl:ENSG00000004799 MIM:602527; AllianceGenome:HGNC:8812
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
Summary: This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]
Expression: Broad expression in fat (RPKM 319.9), adrenal (RPKM 136.4) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (95583499..95596516, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (96819655..96832673, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (95212811..95225828, complement)

Chromosome 7 - NC_000007.14 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

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of Pyruvate Dehydrogenase Kinase 4 Attenuates Myocardial and Mitochondrial Injury in Sepsis-Induced Cardiomyopathy.
Title: Inhibition of Pyruvate Dehydrogenase Kinase 4 Attenuates Myocardial and Mitochondrial Injury in Sepsis-Induced Cardiomyopathy.
circFTO from M2 macrophage-derived small extracellular vesicles (sEV) enhances NSCLC malignancy by regulation miR-148a-3pPDK4 axis.
Title: circFTO from M2 macrophage-derived small extracellular vesicles (sEV) enhances NSCLC malignancy by regulation miR-148a-3pPDK4 axis.
Expression and Role of PDK4 on Childhood Dyslipidemia and Lipid Metabolism in Hyperlipidemic Mice.
Title: Expression and Role of PDK4 on Childhood Dyslipidemia and Lipid Metabolism in Hyperlipidemic Mice.
Identification of PDK4 as Hub Gene for Diabetic Nephropathy Using Co-Expression Network Analysis.
Title: Identification of PDK4 as Hub Gene for Diabetic Nephropathy Using Co-Expression Network Analysis.
High glucose promotes benign prostatic hyperplasia by downregulating PDK4 expression.
Title: High glucose promotes benign prostatic hyperplasia by downregulating PDK4 expression.
PDK4 facilitates fibroblast functions and diabetic wound healing through regulation of HIF-1alpha protein stability and gene expression.
Title: PDK4 facilitates fibroblast functions and diabetic wound healing through regulation of HIF-1α protein stability and gene expression.
Promotive role of eukaryotic translation initiation factor 4A isoform 3 in ovarian cancer cell growth and aerobic glycolysis through the pyruvate dehydrogenase kinase 4 signaling.
Title: Promotive role of eukaryotic translation initiation factor 4A isoform 3 in ovarian cancer cell growth and aerobic glycolysis through the pyruvate dehydrogenase kinase 4 signaling.
WTAP Mediated the N6-methyladenosine Modification of PDK4 to Regulate the Malignant Behaviors of Colorectal Cancer Cells In Vitro and In Vivo.
Title: WTAP Mediated the N6-methyladenosine Modification of PDK4 to Regulate the Malignant Behaviors of Colorectal Cancer Cells In Vitro and In Vivo.
Glucocorticoid Receptors Drive Breast Cancer Cell Migration and Metabolic Reprogramming via PDK4.
Title: Glucocorticoid Receptors Drive Breast Cancer Cell Migration and Metabolic Reprogramming via PDK4.
The Link between Mitochondrial Dysfunction and Sarcopenia: An Update Focusing on the Role of Pyruvate Dehydrogenase Kinase 4.
Title: The Link between Mitochondrial Dysfunction and Sarcopenia: An Update Focusing on the Role of Pyruvate Dehydrogenase Kinase 4.

Submit: New GeneRIF Correction See all GeneRIFs (74)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr enhances PPARbeta/delta-induced PDK4, carnitine palmitoyltransferase I (CPT1), and acetyl-coenzyme A acyltransferase 2 (ACAA2) mRNA expression in cells	PubMed
	vpr	HIV-1 Vpr enhances PPARbeta/delta agonist GW501516-induced pyruvate dehydrogenase kinase 4 (PDK4) protein expression and phosphorylation of pyruvate dehydrogenase alpha 1 (PDHE1alpha) at serine 293 in cells	PubMed
matrix	gag	HIV-1 MA increases PDK4 mRNA expression in HepG2 cells	PubMed

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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

D7S2331 (e-PCR)
- UniSTS:5153

A002R16 (e-PCR)
- UniSTS:67646

PDK4_1720 (e-PCR)
- UniSTS:280906

RH70675 (e-PCR)
- UniSTS:16472

2094 (e-PCR)
- UniSTS:5073

D13S839E (e-PCR)
- UniSTS:151514

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables pyruvate dehydrogenase (acetyl-transferring) kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables pyruvate dehydrogenase (acetyl-transferring) kinase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular response to fatty acid	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in insulin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of anoikis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of acetyl-CoA biosynthetic process from pyruvate	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of acetyl-CoA biosynthetic process from pyruvate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of bone resorption	IEA Inferred from Electronic Annotation more info
involved_in regulation of cellular ketone metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of fatty acid oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of glucose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of glucose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of pH	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to starvation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: pyruvate dehydrogenase kinase, isozyme 4

Names: [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial; [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 4, mitochondrial; pyruvate dehydrogenase kinase, isoenzyme 4; pyruvate dehydrogenase, lipoamide, kinase isozyme 4, mitochondrial

NP_002603.1

EC 2.7.11.2

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_047008.1 RefSeqGene

Range

5098..18115

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002612.4 → NP_002603.1 pyruvate dehydrogenase kinase, isozyme 4

See identical proteins and their annotated locations for NP_002603.1

Status: REVIEWED

Source sequence(s)

AF334710, BC040239, DA923767, DB035430, U54617

Consensus CDS

CCDS5643.1

UniProtKB/Swiss-Prot

Q16654

UniProtKB/TrEMBL

A4D1H4, Q53FG1

Related

ENSP00000005178.5, ENST00000005178.6

Conserved Domains (2) summary

smart00387
Location:245 → 365

HATPase_c; Histidine kinase-like ATPases

pfam10436
Location:34 → 195

BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase