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FLASH GENE

Symbol

PDP1

contributors: mct/npt - updated : 14-03-2018

HGNC name	pyruvate dehyrogenase phosphatase catalytic subunit 1
HGNC id	9279

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PDP1D pyruvate dehydrogenase phosphatase 1 deficiency
Location	8q22.1      Physical location : 94.929.082 - 94.938.294
Synonym name	pyruvate dehydrogenase phosphatase
	pyruvate dehydrogenase (lipoamide) phosphatase-phosphatase
	protein phosphatase 2C, magnesium-dependent, catalytic subunit
Synonym symbol(s)	PDP, PDH, MGC119646, FLJ32517, PDPC, PPM2C, PPM2A
EC.number	3.1.3.43

DNA

TYPE	virus associated
STRUCTURE	9.21 kb     2 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018444 2 - 4291 NP_060914 60.9 537 - 1998 9651365 variant 1 - - 4248 isoform 1 67.3 596 - 1998 9651365 NM_001161779 3 - 4373 NP_001155251 63.6 562 - 1998 9651365 NM_001161780 3 - 4247 NP_001155252 63.6 562 - 1998 9651365 NM_001161781 2 - 4234 NP_001155253 60.9 537 - 1998 9651365

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland         Nervous brain       highly Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a PWWP (proline-tryptophan-tryptophan-proline) domain, involved in histone methylation regulation, that adopts a classical PWWP fold, with a five-strand antiparallel beta-barrel followed by three alpha-helices

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	homolog to rattus Pdp1
	homolog to murine LOC381511

Homologene

FAMILY

protein phosphatase 2C family of protein serine/threonine phosphatases (PP2C family)

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix

basic FUNCTION	dephosphorylating and reactivating the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (PDC)
	is a mitochondrial serine phosphatase that activates phosphorylated pyruvate dehydrogenase complex by dephosphorylation
	mitochondrial PDP1 is a potential regulator that controls cardiac differentiation at an early differentiation stage in embryonic stem cells (ESCs)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	transit peptide

PATHWAY

metabolism

signaling

a component

heterodimer of a catalytic subunit and a FAD protein of unknown function

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor,
	Mg2+ dependent
	Ca2+

protein

lipid-induced antagonism of CRAT might contribute to decreased PDP1 activity and glucose disposal in the context of obesity and diabetes

cell & other

REGULATION

activated by

calcium Ca2+

Other

phosphorylation at different tyrosine residues inhibits likely PDP1 through independent mechanisms, which act in concert to regulate pyruvate dehydrogenase complex (PDC) activity and promote the Warburg effect

ASSOCIATED DISORDERS

corresponding disease(s)

PDP1D

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function reduced activity of PDP in congenital chronic lactic acidosis constitutional     --other   PDP1 phosphorylation was increased in lymphocytes from the umbilical cord blood of the Gestational diabetes mellitus (GDM)patients and in high glucose-treated hepatic cells

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS