• Gene id: 5464

Gene Summary

• Gene Symbol: PPA1   Gene   UCSC   Ensembl
• Aliases: HEL-S-66p, IOPPP, PP, PP1, SID6-8061
• Gene name: inorganic pyrophosphatase 1
• Alternate names: inorganic pyrophosphatase, PPase, cytosolic inorganic pyrophosphatase, diphosphate phosphohydrolase, epididymis secretory sperm binding protein Li 66p, inorganic diphosphatase 1, pyrophosphatase (inorganic) 1, pyrophosphatase 1, pyrophosphate phospho-hydrolase,
• Gene location: 10q22.1 (70233428: 70202830)     Exons: 11     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 179030

SNPs

rs13206743

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.52152310T>C
NC_000006.11   g.52017108T>C|SEQ=[T/C]|GENE=LINCMD1

Protein Summary

• Protein general information: Q15181  
  • Name: Inorganic pyrophosphatase (EC 3.6.1.1) (Pyrophosphate phospho hydrolase) (PPase)
  • Length: 289  
  • Mass: 32660
  • Tissue specificity: Expressed ubiquitously. {ECO
• Sequence:

  MSGFSTEERAAPFSLEYRVFLKNEKGQYISPFHDIPIYADKDVFHMVVEVPRWSNAKMEIATKDPLNPIKQDVKK
  GKLRYVANLFPYKGYIWNYGAIPQTWEDPGHNDKHTGCCGDNDPIDVCEIGSKVCARGEIIGVKVLGILAMIDEG
  ETDWKVIAINVDDPDAANYNDINDVKRLKPGYLEATVDWFRRYKVPDGKPENEFAFNAEFKDKDFAIDIIKSTHD
  HWKALVTKKTNGKGISCMNTTLSESPFKCDPDAARAIVDALPPPCESACTVPTDVDKWFHHQKN

• Structural information:
  • Interpro: IPR008162  IPR036649  
  • Prosite: PS00387
  • CDD: cd00412
  • PDB: 6C45
  • PDBsum: 6C45
  • STRING: ENSP00000362329
• Other Databases: GeneCards:  PPA1  Malacards:  PPA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006796	phosphate-containing compound metabolic process	IBA	biological process
GO:0004427	inorganic diphosphatase activity	IBA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0006796	phosphate-containing compound metabolic process	IEA	biological process
GO:0004427	inorganic diphosphatase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004427	inorganic diphosphatase activity	TAS	molecular function
GO:0006796	phosphate-containing compound metabolic process	TAS	biological process
GO:0004427	inorganic diphosphatase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0071344	diphosphate metabolic process	TAS	biological process
GO:0016462	pyrophosphatase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00190	Oxidative phosphorylation

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)