Pdhx pyruvate dehydrogenase complex, component X [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pdhxprovided by MGI
Official Full Name: pyruvate dehydrogenase complex, component Xprovided by MGI
Primary source: MGI:MGI:1351627
See related: Ensembl:ENSMUSG00000010914 AllianceGenome:MGI:1351627
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: E3bp; Pdx1
Summary: Predicted to enable molecular adaptor activity. Predicted to contribute to pyruvate dehydrogenase (NAD+) activity. Involved in acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. Is active in mitochondrial matrix. Is expressed in several structures, including alimentary system; musculature; nervous system; sensory organ; and urinary system. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency and sarcoma. Orthologous to human PDHX (pyruvate dehydrogenase complex component X). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in heart adult (RPKM 23.4), CNS E18 (RPKM 11.9) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E2; 2 54.25 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (102851400..102903858, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (103021055..103073513, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

In islet cells both fat and glucose regulate PDK gene and protein expression and indicate that hyperglycemia and hyperlipidemia contribute to the decline in diabetic islet PDH activity by increasing mRNA and protein expression of PDK.
Title: Regulation of PDK mRNA by high fatty acid and glucose in pancreatic islets.
T1a/podoplanin is first expressed in prox 1-positive lymphatic progenitor cells, with predominant localization in the luminal plasma membrane of lymphatic endothelial cells during later development.
Title: T1alpha/podoplanin deficiency disrupts normal lymphatic vasculature formation and causes lymphedema.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info	PubMed
contributes_to pyruvate dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in acetyl-CoA biosynthetic process from pyruvate	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within acetyl-CoA biosynthetic process from pyruvate	ISO Inferred from Sequence Orthology more info
involved_in acetyl-CoA biosynthetic process from pyruvate	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of acetyltransferase complex	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
part_of pyruvate dehydrogenase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of pyruvate dehydrogenase complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: pyruvate dehydrogenase protein X component, mitochondrial

Names: dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex (E3-binding protein) (proX); lipoyl-containing pyruvate dehydrogenase complex component X

NP_780303.1

EC 2.3.1.-

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.

mRNA and Protein(s)

NM_175094.5 → NP_780303.1 pyruvate dehydrogenase protein X component, mitochondrial

See identical proteins and their annotated locations for NP_780303.1

Status: VALIDATED

Source sequence(s)

AK047670, AK050433, BX635213

Consensus CDS

CCDS16473.1

UniProtKB/Swiss-Prot

Q8BKZ9

Related

ENSMUSP00000011058.3, ENSMUST00000011058.9

Conserved Domains (4) summary

cd06849
Location:57 → 131

lipoyl_domain; Lipoyl domain of the dihydrolipoyl acyltransferase component (E2) of 2-oxo acid dehydrogenases. 2-oxo acid dehydrogenase multienzyme complexes, like pyruvate dehydrogenase (PDH), 2-oxoglutarate dehydrogenase (OGDH) and branched-chain 2-oxo acid ...

TIGR01349
Location:58 → 500

PDHac_trf_mito; pyruvate dehydrogenase complex dihydrolipoamide acetyltransferase, long form

pfam00198
Location:291 → 500

2-oxoacid_dh; 2-oxoacid dehydrogenases acyltransferase (catalytic domain)

pfam02817
Location:183 → 215

E3_binding; e3 binding domain