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FLASH GENE

Symbol

PPM1K

contributors: mct - updated : 17-12-2013

HGNC name	protein phosphatase, Mg2+/Mn2+ dependent, 1K
HGNC id	25415

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MSUDMV maple syrup urine disease, mild variant
Location	4q22.1      Physical location : 89.181.533 - 89.205.888
Synonym name	protein phosphatase 2C kappa
	PP2C domain-containing protein phosphatase 1K
	PP2C-type mitochondrial phosphoprotein phosphatase
	branched-chain alpha-ketoacid dehydrogenase phosphatase
Synonym symbol(s)	BDP, PTMP, PP2Cm, MSUDMV, PP2Ckappa
EC.number	3.1.3.16

DNA

TYPE	functioning gene
STRUCTURE	27.22 kb     7 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_152542 7 - 6590 NP_689755 - 372 - 2007 17336929

EXPRESSION

Type

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 Cardiovascular heart       highly Homo sapiens Digestive liver       highly Homo sapiens Nervous brain       highly Homo sapiens Respiratory diaphragm       highly Homo sapiens Urinary kidney       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   moderately Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	conserved organization of PP2C phosphatases
	presence of two bound metal ions in the active site

secondary structure

structure dominated by two central beta-sheets that pack on each other, forming a beta-sandwich; flanking each beta-sheet is a pair of antiparallel alpha-helices

HOMOLOGY

Homologene

FAMILY

PPM family of Mn2+/Mg2+-dependent phosphatases

CATEGORY

enzyme

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

basic FUNCTION

mitochondria-targeted protein phosphatase,that is the branched-chain alpha-keto dehydrogenase (BCKD)phosphatase and thus serves as a key regulator for Branched-chain amino acid (BCAA) catabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

competes with the BCKD kinase (BCKDK) in a substrate-dependent and mutually exclusive manner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MSUDMV

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS