PPA1 inorganic pyrophosphatase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPA1provided by HGNC
Official Full Name: inorganic pyrophosphatase 1provided by HGNC
Primary source: HGNC:HGNC:9226
See related: Ensembl:ENSG00000180817 MIM:179030; AllianceGenome:HGNC:9226
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PP; PP1; IOPPP; HEL-S-66p; SID6-8061
Summary: The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 81.3), colon (RPKM 70.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (70202835..70233429, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (71071720..71102270, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (71962591..71993185, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural and biochemical characterization of active sites mutant in human inorganic pyrophosphatase.
Title: Structural and biochemical characterization of active sites mutant in human inorganic pyrophosphatase.
PHI-1, an Endogenous Inhibitor Protein for Protein Phosphatase-1 and a Pan-Cancer Marker, Regulates Raf-1 Proteostasis.
Title: PHI-1, an Endogenous Inhibitor Protein for Protein Phosphatase-1 and a Pan-Cancer Marker, Regulates Raf-1 Proteostasis.
Inorganic pyrophosphatase 1 activates the phosphatidylinositol 3-kinase/Akt signaling to promote tumorigenicity and stemness properties in colorectal cancer.
Title: Inorganic pyrophosphatase 1 activates the phosphatidylinositol 3-kinase/Akt signaling to promote tumorigenicity and stemness properties in colorectal cancer.
Crystallographic and modeling study of the human inorganic pyrophosphatase 1: A potential anti-cancer drug target.
Title: Crystallographic and modeling study of the human inorganic pyrophosphatase 1: A potential anti-cancer drug target.
Basolateral protein Scribble binds phosphatase PP1 to establish a signaling network maintaining apicobasal polarity.
Title: Basolateral protein Scribble binds phosphatase PP1 to establish a signaling network maintaining apicobasal polarity.
PP1, PKA and DARPP-32 in breast cancer: A retrospective assessment of protein and mRNA expression.
Title: PP1, PKA and DARPP-32 in breast cancer: A retrospective assessment of protein and mRNA expression.
The PP1 regulator PPP1R2 coordinately regulates AURKA and PP1 to control centrosome phosphorylation and maintain central spindle architecture.
Title: The PP1 regulator PPP1R2 coordinately regulates AURKA and PP1 to control centrosome phosphorylation and maintain central spindle architecture.
Mutation of SPINOPHILIN (PPP1R9B) found in human tumors promotes the tumorigenic and stemness properties of cells.
Title: Mutation of SPINOPHILIN (PPP1R9B) found in human tumors promotes the tumorigenic and stemness properties of cells.
PP1 promotes cyclin B destruction and the metaphase-anaphase transition by dephosphorylating CDC20.
Title: PP1 promotes cyclin B destruction and the metaphase-anaphase transition by dephosphorylating CDC20.
PP1 and PP2A Use Opposite Phospho-dependencies to Control Distinct Processes at the Kinetochore.
Title: PP1 and PP2A Use Opposite Phospho-dependencies to Control Distinct Processes at the Kinetochore.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A002R09 (e-PCR)
- UniSTS:8499

D11S3114 (e-PCR)
- UniSTS:152207

NoName (e-PCR)
- UniSTS:488123

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables inorganic diphosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in phosphate-containing compound metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: inorganic pyrophosphatase

Names: PPase; cytosolic inorganic pyrophosphatase; diphosphate phosphohydrolase; epididymis secretory sperm binding protein Li 66p; inorganic diphosphatase 1; pyrophosphatase (inorganic) 1; pyrophosphatase 1; pyrophosphate phospho-hydrolase

NP_066952.1

EC 3.6.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_021129.4 → NP_066952.1 inorganic pyrophosphatase

See identical proteins and their annotated locations for NP_066952.1

Status: REVIEWED

Source sequence(s)

AB026723, AL731540

Consensus CDS

CCDS7299.1

UniProtKB/Swiss-Prot

Q15181, Q2M348, Q5SQT7, Q6P7P4, Q9UQJ5, Q9Y5B1

UniProtKB/TrEMBL

V9HWB5

Related

ENSP00000362329.2, ENST00000373232.8

Conserved Domains (1) summary

cl00217
Location:4 → 241

pyrophosphatase; Inorganic pyrophosphatase. These enzymes hydrolyze inorganic pyrophosphate (PPi) to two molecules of orthophosphates (Pi). The reaction requires bivalent cations. The enzymes in general exist as homooligomers.