Pdk3 pyruvate dehydrogenase kinase, isoenzyme 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pdk3provided by MGI
Official Full Name: pyruvate dehydrogenase kinase, isoenzyme 3provided by MGI
Primary source: MGI:MGI:2384308
See related: Ensembl:ENSMUSG00000035232 AllianceGenome:MGI:2384308
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 2610001M10Rik
Summary: Predicted to enable ATP binding activity; protein serine/threonine kinase activity; and pyruvate dehydrogenase (acetyl-transferring) kinase activity. Predicted to be involved in several processes, including hypoxia-inducible factor-1alpha signaling pathway; peroxisome proliferator activated receptor signaling pathway; and regulation of acetyl-CoA biosynthetic process from pyruvate. Predicted to act upstream of or within glucose metabolic process and phosphorylation. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease X-linked dominant 6. Orthologous to human PDK3 (pyruvate dehydrogenase kinase 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 17.7), limb E14.5 (RPKM 10.6) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: X C3; X 41.34 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (92798923..92875756, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (93764616..93832150, complement)

Chromosome X - NC_000086.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

demonstrate that the increased PDK3 activity in patient fibroblasts (PDK3(R158H)) leads to the attenuation of PDC through hyper-phosphorylation of E1 at selected serine residues
Title: Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.
These findings reveal that there are divergent roles of PDKs during oocyte maturation and indicate a new mechanism controlling meiotic structure.
Title: Differing roles of pyruvate dehydrogenase kinases during mouse oocyte maturation.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-44a9 (e-PCR)
- UniSTS:257810

AI035637 (e-PCR)
- UniSTS:181306

px-6g10 (e-PCR)
- UniSTS:258147

NoName (e-PCR)
- UniSTS:238047

px-13b4 (e-PCR)
- UniSTS:257269

Pdk3 (e-PCR), detects polymorphism
- UniSTS:507130

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein kinase activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables pyruvate dehydrogenase (acetyl-transferring) kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables pyruvate dehydrogenase (acetyl-transferring) kinase activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to fatty acid	ISO Inferred from Sequence Orthology more info
involved_in hypoxia-inducible factor-1alpha signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-serine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in peroxisome proliferator activated receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of acetyl-CoA biosynthetic process from pyruvate	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
involved_in regulation of reactive oxygen species metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pyruvate dehydrogenase kinase, isozyme 3

Names: [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial; [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 3, mitochondrial

NP_663605.1

EC 2.7.11.2

XP_036017817.1

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.

mRNA and Protein(s)

NM_145630.3 → NP_663605.1 pyruvate dehydrogenase kinase, isozyme 3

See identical proteins and their annotated locations for NP_663605.1

Status: VALIDATED

Source sequence(s)

AL589652

Consensus CDS

CCDS30275.1

UniProtKB/Swiss-Prot

Q8BTX1, Q922H2

UniProtKB/TrEMBL

Q3V250, Q4FJR4

Related

ENSMUSP00000036604.7, ENSMUST00000045748.7

Conserved Domains (3) summary

smart00387
Location:238 → 359

HATPase_c; Histidine kinase-like ATPases

COG0642
Location:220 → 365

BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]

pfam10436
Location:26 → 188

BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

92798923..92875756 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161924.1 → XP_036017817.1 pyruvate dehydrogenase kinase, isozyme 3 isoform X1

UniProtKB/TrEMBL

Q3V250

Conserved Domains (2) summary

cd16929
Location:146 → 313

HATPase_PDK-like; Histidine kinase-like ATPase domain of pyruvate dehydrogenase kinase, branched-chain alpha-ketoacid dehydrogenase kinase and related domains

pfam10436
Location:2 → 142

BCDHK_Adom3; Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase