Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pdp1provided by MGI
Official Full Name: pyruvate dehydrogenase phosphatase catalytic subunit 1provided by MGI
Primary source: MGI:MGI:2685870
See related: Ensembl:ENSMUSG00000049225 AllianceGenome:MGI:2685870
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: Ppm2c; Gm1024; PDPC 1
Summary: Predicted to enable [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity; calcium ion binding activity; and magnesium ion binding activity. Predicted to be involved in peptidyl-threonine dephosphorylation and signal transduction. Located in mitochondrion. Human ortholog(s) of this gene implicated in obesity and pyruvate decarboxylase deficiency. Orthologous to human PDP1 (pyruvate dehydrogenase phosphatase catalytic subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in cortex adult (RPKM 14.0), frontal lobe adult (RPKM 11.0) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 A1; 4 5.48 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (11958183..11966450, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (11958183..11966450, complement)

Chromosome 4 - NC_000070.7 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?

Decreased pyruvate dehydrogenase activity in Tafazzin-deficient cells is caused by dysregulation of pyruvate dehydrogenase phosphatase 1 (PDP1).
Title: Decreased pyruvate dehydrogenase activity in Tafazzin-deficient cells is caused by dysregulation of pyruvate dehydrogenase phosphatase 1 (PDP1).
Mitochondrial PDP1 is a potential regulator that controls cardiac differentiation at an early differentiation stage in mouse embryonic stem cells.
Title: Mitochondrial pyruvate dehydrogenase phosphatase 1 regulates the early differentiation of cardiomyocytes from mouse embryonic stem cells.
defects in PP2Cm may be responsible for a subset of human maple syrup urine disease
Title: Protein phosphatase 2Cm is a critical regulator of branched-chain amino acid catabolism in mice and cultured cells.

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Variation

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Alleles

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

Endonuclease-mediated (3)

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 [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity	ISO Inferred from Sequence Orthology more info
enables [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables magnesium ion binding	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine phosphatase activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in peptidyl-threonine dephosphorylation	ISO Inferred from Sequence Orthology more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor 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

General protein information

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Preferred Names: [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial

Names: protein phosphatase 2C, magnesium dependent, catalytic subunit; pyruvate dehydrogenase phosphatase isoenzyme 2; pyruvate dehyrogenase phosphatase catalytic subunit 1

NP_001028625.1

EC 3.1.3.43

NP_001091700.1

EC 3.1.3.43

NP_001091701.1

EC 3.1.3.43

NP_001277320.1

EC 3.1.3.43

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_001033453.4 → NP_001028625.1 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform c

See identical proteins and their annotated locations for NP_001028625.1

Status: VALIDATED

Source sequence(s)

AL772167

Consensus CDS

CCDS38694.1

UniProtKB/Swiss-Prot

Q3UV70

UniProtKB/TrEMBL

A8Y5Q1, Q05BF9

Related

ENSMUSP00000103932.3, ENSMUST00000108297.3

Conserved Domains (1) summary

cd00143
Location:109 → 525

PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
NM_001098230.2 → NP_001091700.1 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform b

See identical proteins and their annotated locations for NP_001091700.1

Status: VALIDATED

Source sequence(s)

AL772167

Consensus CDS

CCDS51121.1

UniProtKB/TrEMBL

A2AJP9, A8Y5Q0

Related

ENSMUSP00000103934.2, ENSMUST00000108299.2

Conserved Domains (1) summary

cd00143
Location:134 → 550

PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
NM_001098231.2 → NP_001091701.1 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform a

See identical proteins and their annotated locations for NP_001091701.1

Status: VALIDATED

Source sequence(s)

AL772167

UniProtKB/TrEMBL

A2AJQ0

Related

ENSMUSP00000103936.2, ENSMUST00000108301.8

Conserved Domains (1) summary

cd00143
Location:145 → 561

PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
NM_001290387.2 → NP_001277316.2 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform c

Status: VALIDATED

Source sequence(s)

AL772167

Consensus CDS

CCDS71345.1

UniProtKB/Swiss-Prot

Q3UV70

UniProtKB/TrEMBL

A8Y5Q1, Q05BF9

Related

ENSMUSP00000103937.2, ENSMUST00000108302.8
NM_001290391.2 → NP_001277320.1 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial isoform b

See identical proteins and their annotated locations for NP_001277320.1

Status: VALIDATED

Source sequence(s)

AL772167

Consensus CDS

CCDS51121.1

UniProtKB/TrEMBL

A2AJP9, A8Y5Q0

Related

ENSMUSP00000092766.4, ENSMUST00000095144.10

Conserved Domains (1) summary

cd00143
Location:134 → 550

PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...