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Protein

[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial

Gene

PDP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex.By similarity

Catalytic activityi

[Pyruvate dehydrogenase (acetyl-transferring)] phosphate + H2O = [pyruvate dehydrogenase (acetyl-transferring)] + phosphate.

Cofactori

Mg2+By similarityNote: Binds 2 magnesium ions per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi144Magnesium 1By similarity1
Metal bindingi144Magnesium 2By similarity1
Metal bindingi145Magnesium 1; via carbonyl oxygenBy similarity1
Metal bindingi418Magnesium 2By similarity1
Metal bindingi516Magnesium 1By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Protein phosphatase
LigandCalcium, Magnesium, Metal-binding

Enzyme and pathway databases

BRENDAi3.1.3.43. 2681.
ReactomeiR-HSA-204174. Regulation of pyruvate dehydrogenase (PDH) complex.
SIGNORiQ9P0J1.

Names & Taxonomyi

Protein namesi
Recommended name:
[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial (EC:3.1.3.43)
Short name:
PDP 1
Alternative name(s):
Protein phosphatase 2C
Pyruvate dehydrogenase phosphatase catalytic subunit 1
Short name:
PDPC 1
Gene namesi
Name:PDP1
Synonyms:PDP, PPM2C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000164951.15.
HGNCiHGNC:9279. PDP1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Pyruvate dehydrogenase phosphatase deficiency (PDP deficiency)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionResults in lactic acidosis leading to neurological dysfunction.
See also OMIM:608782
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029882284Missing in PDP deficiency; low activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi54704.
MalaCardsiPDP1.
MIMi608782. phenotype.
OpenTargetsiENSG00000164951.
Orphaneti79246. Pyruvate dehydrogenase phosphatase deficiency.
PharmGKBiPA33607.

Polymorphism and mutation databases

BioMutaiPDP1.
DMDMi78099789.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 71MitochondrionBy similarityAdd BLAST71
ChainiPRO_000002541972 – 537[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrialAdd BLAST466

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei202N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9P0J1.
MaxQBiQ9P0J1.
PaxDbiQ9P0J1.
PeptideAtlasiQ9P0J1.
PRIDEiQ9P0J1.

PTM databases

DEPODiQ9P0J1.
iPTMnetiQ9P0J1.
PhosphoSitePlusiQ9P0J1.

Expressioni

Gene expression databases

BgeeiENSG00000164951.
CleanExiHS_PPM2C.
ExpressionAtlasiQ9P0J1. baseline and differential.
GenevisibleiQ9P0J1. HS.

Organism-specific databases

HPAiHPA018483.
HPA019081.
HPA021152.

Interactioni

Subunit structurei

Heterodimer of a catalytic (PDP1) and a regulatory (PDPR) subunit.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CBFA2T2O434393EBI-2861634,EBI-748628

Protein-protein interaction databases

BioGridi120103. 37 interactors.
IntActiQ9P0J1. 6 interactors.
MINTiMINT-4831562.
STRINGi9606.ENSP00000379503.

Structurei

3D structure databases

ProteinModelPortaliQ9P0J1.
SMRiQ9P0J1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini109 – 525PPM-type phosphatasePROSITE-ProRule annotationAdd BLAST417

Sequence similaritiesi

Belongs to the PP2C family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0700. Eukaryota.
COG0631. LUCA.
GeneTreeiENSGT00390000006874.
HOGENOMiHOG000220821.
HOVERGENiHBG008162.
InParanoidiQ9P0J1.
KOiK01102.
OMAiVKFKWSI.
OrthoDBiEOG091G05XU.
PhylomeDBiQ9P0J1.
TreeFamiTF313505.

Family and domain databases

CDDicd00143. PP2Cc. 1 hit.
Gene3Di3.60.40.10. 1 hit.
InterProiView protein in InterPro
IPR015655. PP2C.
IPR000222. PP2C_BS.
IPR036457. PPM-type_dom_sf.
IPR001932. PPM-type_phosphatase_dom.
PANTHERiPTHR13832. PTHR13832. 1 hit.
PfamiView protein in Pfam
PF00481. PP2C. 1 hit.
SMARTiView protein in SMART
SM00332. PP2Cc. 1 hit.
SUPFAMiSSF81606. SSF81606. 3 hits.
PROSITEiView protein in PROSITE
PS01032. PPM_1. 1 hit.
PS51746. PPM_2. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P0J1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPAPTQLFFP LIRNCELSRI YGTACYCHHK HLCCSSSYIP QSRLRYTPHP
60 70 80 90 100
AYATFCRPKE NWWQYTQGRR YASTPQKFYL TPPQVNSILK ANEYSFKVPE
110 120 130 140 150
FDGKNVSSIL GFDSNQLPAN APIEDRRSAA TCLQTRGMLL GVFDGHAGCA
160 170 180 190 200
CSQAVSERLF YYIAVSLLPH ETLLEIENAV ESGRALLPIL QWHKHPNDYF
210 220 230 240 250
SKEASKLYFN SLRTYWQELI DLNTGESTDI DVKEALINAF KRLDNDISLE
260 270 280 290 300
AQVGDPNSFL NYLVLRVAFS GATACVAHVD GVDLHVANTG DSRAMLGVQE
310 320 330 340 350
EDGSWSAVTL SNDHNAQNER ELERLKLEHP KSEAKSVVKQ DRLLGLLMPF
360 370 380 390 400
RAFGDVKFKW SIDLQKRVIE SGPDQLNDNE YTKFIPPNYH TPPYLTAEPE
410 420 430 440 450
VTYHRLRPQD KFLVLATDGL WETMHRQDVV RIVGEYLTGM HHQQPIAVGG
460 470 480 490 500
YKVTLGQMHG LLTERRTKMS SVFEDQNAAT HLIRHAVGNN EFGTVDHERL
510 520 530
SKMLSLPEEL ARMYRDDITI IVVQFNSHVV GAYQNQE
Length:537
Mass (Da):61,054
Last modified:October 25, 2005 - v3
Checksum:i818B0064CA7961A0
GO
Isoform 2 (identifier: Q9P0J1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MCVCPGPRRIGIPVRSSSLPLFSDAM

Note: No experimental confirmation available.
Show »
Length:562
Mass (Da):63,695
Checksum:i2A29F37D7121A093
GO

Sequence cautioni

Q9P0J1: The sequence AAF67480 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti105 – 116NVSSI…FDSNQ → MSVLSLDLTAIK in AAF67480 (PubMed:10931946).CuratedAdd BLAST12
Sequence conflicti151C → W in AAF67480 (PubMed:10931946).Curated1
Sequence conflicti165V → G in AAF67480 (PubMed:10931946).Curated1
Sequence conflicti168L → V in AAF67480 (PubMed:10931946).Curated1
Sequence conflicti537E → EK in AAF67480 (PubMed:10931946).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029882284Missing in PDP deficiency; low activity. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0468691M → MCVCPGPRRIGIPVRSSSLP LFSDAM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155661 mRNA. Translation: AAF67480.1. Different initiation.
AK126862 mRNA. Translation: BAG54383.1.
DA769567 mRNA. No translation available.
AC084346 Genomic DNA. No translation available.
CH471060 Genomic DNA. Translation: EAW91704.1.
BC047619 mRNA. Translation: AAH47619.1.
BC098343 mRNA. Translation: AAH98343.1.
CCDSiCCDS55262.1. [Q9P0J1-2]
CCDS6259.1. [Q9P0J1-1]
RefSeqiNP_001155251.1. NM_001161779.1. [Q9P0J1-2]
NP_001155252.1. NM_001161780.1. [Q9P0J1-2]
NP_001155253.1. NM_001161781.1. [Q9P0J1-1]
NP_060914.2. NM_018444.3. [Q9P0J1-1]
XP_011515438.1. XM_011517136.1. [Q9P0J1-1]
UniGeneiHs.22265.

Genome annotation databases

EnsembliENST00000297598; ENSP00000297598; ENSG00000164951. [Q9P0J1-1]
ENST00000396200; ENSP00000379503; ENSG00000164951. [Q9P0J1-2]
ENST00000517764; ENSP00000430380; ENSG00000164951. [Q9P0J1-1]
ENST00000520728; ENSP00000428317; ENSG00000164951. [Q9P0J1-1]
GeneIDi54704.
KEGGihsa:54704.
UCSCiuc003yge.4. human. [Q9P0J1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPDP1_HUMAN
AccessioniPrimary (citable) accession number: Q9P0J1
Secondary accession number(s): B3KX71, J3KPU0, Q5U5K1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: October 25, 2005
Last modified: October 25, 2017
This is version 158 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families