Literature summary for 3.6.1.1 extracted from

Curbo, S.; Lagier-Tourenne, C.; Carrozzo, R.; Palenzuela, L.; Lucioli, S.; Hirano, M.; Santorelli, F.; Arenas, J.; Karlsson, A.; Johansson, M.
Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes (2006), Genomics, 87, 410-416.

Search for more literature for 3.6.1.1

Cloned(Commentary)

Cloned (Comment)	Organism
gene PPA1, isozyme PPase1, DNA and amino acid sequence determination and anaylsis	Homo sapiens
gene PPA2, isozyme PPase2, DNA and amino acid sequence determination and anaylsis, localization on chromosome 4q25, expression of a GFP-atgged PPase2 fragment in HeLa cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	no mutations of isozyme PPase2 are involved in the human disease mictochondrial DNA depletion syndrome, MDS	Homo sapiens

Inhibitors

Inhibitors	Comment	Organism	Structure
Ca2+	over 90% inhibition at 0.12 mM; over 90% inhibition at 0.12 mM	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
cytosol	isozyme PPase1	Homo sapiens	5829	-
mitochondrion	isozyme PPase2	Homo sapiens	5739	-

Metals/Ions

Metals/Ions	Comment	Organism	Structure
Mg2+	required, optimal at 5 mM	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
diphosphate + H2O	Homo sapiens	-	2 phosphate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q15181	gene PPA1, isozyme PPase1; gene PPA1, isozyme PPase1	-
Homo sapiens	Q9H2U2	gene PPA2, isozyme PPase2, mitochondrial precursor; gene PPA2, isozyme PPase2	-

Posttranslational Modification

Posttranslational Modification	Comment	Organism
proteolytic modification	PPase2 contains a mitochondrial import siganl sequence	Homo sapiens

Source Tissue

Source Tissue	Comment	Organism	Textmining
heart	high expression level of isozyme PPase2	Homo sapiens	-
heart	higher expression level of isozyme PPase1	Homo sapiens	-
kidney	high expression level of isozyme PPase2	Homo sapiens	-
kidney	higher expression level of isozyme PPase1	Homo sapiens	-
liver	high expression level of isozyme PPase2	Homo sapiens	-
liver	higher expression level of isozyme PPase1	Homo sapiens	-
additional information	isozyme tissue expression pattern, isozyme PPase1 is ubiquitously expressed in human tissue, overview	Homo sapiens	-
additional information	isozyme tissue expression pattern, isozyme PPase2 is ubiquitously expressed in human tissue, overview	Homo sapiens	-
skeletal muscle	high expression level of isozyme PPase2	Homo sapiens	-
skeletal muscle	higher expression level of isozyme PPase1	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
diphosphate + H2O	-	Homo sapiens	2 phosphate	-	?

Synonyms

Synonyms	Comment	Organism
cytosolic PPase	-	Homo sapiens
mitochondrial pyrophosphatase	-	Homo sapiens
ppase-1	-	Homo sapiens
PPase-2	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)