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FLASH GENE

Symbol

PDP1

contributors: mct/npt - updated : 22-06-2009

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 PPM2CD pyruvate dehydrogenase phosphatase 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
EC.number	3.1.3.43

DNA

TYPE	virus associated
STRUCTURE	9.13 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 variant 5 2 - 4291 isoform 3 60.9 537 - Lawson (1993), Cameron (2009) variant 1 - - 4248 isoform 1 67.3 596 - Cameron (2009) variant 2 - - 4373 isoform 2 63.6 562 - Cameron (2009) variant 3 - - 4247 isoform 2 63.6 562 - Cameron (2009) variant 4 - - 4234 isoform 3 60.9 537 - Cameron (2009)

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

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)

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

cell & other

REGULATION

activated by

calcium Ca2+

ASSOCIATED DISORDERS

corresponding disease(s)

PDP1D , PPM2CD

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

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS