• Gene id: 54704

Gene Summary

• Gene Symbol: PDP1   Gene   UCSC   Ensembl
• Aliases: PDH, PDP, PDPC, PPM2A, PPM2C
• Gene name: pyruvate dehyrogenase phosphatase catalytic subunit 1
• Alternate names: pyruvate dehyrogenase phosphatase catalytic subunit 1, PDP 1, PDPC 1, [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial, protein phosphatase 2C, magnesium-dependent, catalytic subunit, protein phosphatase, Mg2+/Mn2+ dependent 2A, pyruv,
• Gene location: 8q22.1 (93916922: 93926067)     Exons: 6     NC_000008.11
• Gene summary(Entrez): Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the comple
• OMIM: 605993

Protein Summary

• Protein general information: Q9P0J1  
  • Name: [Pyruvate dehydrogenase [acetyl transferring]] phosphatase 1, mitochondrial (PDP 1) (EC 3.1.3.43) (Protein phosphatase 2C) (Pyruvate dehydrogenase phosphatase catalytic subunit 1) (PDPC 1)
  • Length: 537  
  • Mass: 61054
• Sequence:

  MPAPTQLFFPLIRNCELSRIYGTACYCHHKHLCCSSSYIPQSRLRYTPHPAYATFCRPKENWWQYTQGRRYASTP
  QKFYLTPPQVNSILKANEYSFKVPEFDGKNVSSILGFDSNQLPANAPIEDRRSAATCLQTRGMLLGVFDGHAGCA
  CSQAVSERLFYYIAVSLLPHETLLEIENAVESGRALLPILQWHKHPNDYFSKEASKLYFNSLRTYWQELIDLNTG
  ESTDIDVKEALINAFKRLDNDISLEAQVGDPNSFLNYLVLRVAFSGATACVAHVDGVDLHVANTGDSRAMLGVQE
  EDGSWSAVTLSNDHNAQNERELERLKLEHPKSEAKSVVKQDRLLGLLMPFRAFGDVKFKWSIDLQKRVIESGPDQ
  LNDNEYTKFIPPNYHTPPYLTAEPEVTYHRLRPQDKFLVLATDGLWETMHRQDVVRIVGEYLTGMHHQQPIAVGG
  YKVTLGQMHGLLTERRTKMSSVFEDQNAATHLIRHAVGNNEFGTVDHERLSKMLSLPEELARMYRDDITIIVVQF
  NSHVVGAYQNQE

• Structural information:
  • Protein Domains: (109..52-)
    (/note="PPM-type-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01082"-)
  • Interpro: IPR015655  IPR000222  IPR036457  IPR001932  
  • Prosite: PS01032 PS51746
  • CDD: cd00143
  • STRING: ENSP00000379503
• Other Databases: GeneCards:  PDP1  Malacards:  PDP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004724	magnesium-dependent protein serine/threonine phosphatase activity	IBA	molecular function
GO:1904184	positive regulation of pyruvate dehydrogenase activity	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004741	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	IBA	molecular function
GO:0004722	protein serine/threonine phosphatase activity	IBA	molecular function
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0043169	cation binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004722	protein serine/threonine phosphatase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004741	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0035970	peptidyl-threonine dephosphorylation	IDA	biological process
GO:0004722	protein serine/threonine phosphatase activity	IDA	molecular function

Diseases

Associated diseases	References
Pyruvate dehydrogenase complex deficiency	KEGG:H00072
Pyruvate dehydrogenase phosphatase deficiency	KEGG:H01996
Pyruvate dehydrogenase complex deficiency	KEGG:H00072
Pyruvate dehydrogenase phosphatase deficiency	KEGG:H01996
obesity	PMID:15897476
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881