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Aliases for PPA1 Gene

Aliases for PPA1 Gene

  • Pyrophosphatase (Inorganic) 1 2 3 5
  • Pyrophosphate Phospho-Hydrolase 2 3 4
  • Cytosolic Inorganic Pyrophosphatase 2 3
  • Inorganic Pyrophosphatase 1 2 3
  • Inorganic Pyrophosphatase 3 4
  • Inorganic Diphosphatase 1 2 3
  • EC 3.6.1.1 4 56
  • IOPPP 3 4
  • PPase 3 4
  • PP 3 4
  • Epididymis Secretory Sperm Binding Protein Li 66p 3
  • Diphosphate Phosphohydrolase 3
  • Pyrophosphatase (Inorganic) 2
  • Pyrophosphatase 1 3
  • HEL-S-66p 3
  • SID6-8061 3
  • PP1 3

External Ids for PPA1 Gene

Previous HGNC Symbols for PPA1 Gene

  • PP

Previous GeneCards Identifiers for PPA1 Gene

  • GC10M071633
  • GC10M071962
  • GC10M065955

Summaries for PPA1 Gene

Entrez Gene Summary for PPA1 Gene

  • 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]

GeneCards Summary for PPA1 Gene

PPA1 (Pyrophosphatase (Inorganic) 1) is a Protein Coding gene. Diseases associated with PPA1 include Baylisascariasis. Among its related pathways are tRNA Aminoacylation and Metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and inorganic diphosphatase activity. An important paralog of this gene is PPA2.

Additional gene information for PPA1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPA1 Gene

Genomics for PPA1 Gene

GeneHancer (GH) Regulatory Elements for PPA1 Gene

Promoters and enhancers for PPA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J070231 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 662.2 +0.3 321 4.4 ZFX MNT CBFA2T2 ZNF148 NKRF POLR2A MLLT1 ZNF121 RERE GTF2F1 PPA1 AIFM2 SAR1A LRRC20 CEP57L1P1 NPFFR1 GC10M070217
GH10J070144 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.7 +87.5 87520 3.2 SP1 ELF3 CTCF MNT NKRF POLR2A ZNF121 ZNF384 ZNF687 ZSCAN21 AIFM2 PIR42845 PIR38078 TYSND1 GC10M070148 PPA1 SAR1A
GH10J070221 Enhancer 0.8 ENCODE 58.8 +11.6 11586 2.2 CC2D1A CTCF ZNF121 SP7 RAD21 FOSL2 ARID2 ZNF143 REST ZEB2 PPA1 SAR1A LRRC20 CEP57L1P1 CALM2P2 NPFFR1 TYSND1 GC10M070217
GH10J070190 Enhancer 0.8 ENCODE 62.4 +41.6 41578 4.4 ZNF121 ZSCAN21 MAFK CEBPG ZNF629 HDAC1 ZNF316 CEBPB SCRT2 SOX6 PPA1 AIFM2 SAR1A CALM2P2 TYSND1 RPS25P9
GH10J070130 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.4 +101.9 101887 3.6 ZFX ELF3 MNT NKRF CEBPG RERE ZNF687 ZSCAN21 AHR BACH1 AIFM2 SAR1A PPA1 PIR50368
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPA1 gene promoter:
  • AML1a
  • c-Myc
  • c-Rel
  • C/EBPalpha
  • FOXD3
  • GATA-1
  • Max
  • Max1

Genomic Locations for PPA1 Gene

Genomic Locations for PPA1 Gene
chr10:70,202,830-70,233,911
(GRCh38/hg38)
Size:
31,082 bases
Orientation:
Minus strand
chr10:71,962,586-71,993,667
(GRCh37/hg19)
Size:
31,082 bases
Orientation:
Minus strand

Genomic View for PPA1 Gene

Genes around PPA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPA1 Gene

Proteins for PPA1 Gene

  • Protein details for PPA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15181-IPYR_HUMAN
    Recommended name:
    Inorganic pyrophosphatase
    Protein Accession:
    Q15181
    Secondary Accessions:
    • Q2M348
    • Q5SQT7
    • Q6P7P4
    • Q9UQJ5
    • Q9Y5B1

    Protein attributes for PPA1 Gene

    Size:
    289 amino acids
    Molecular mass:
    32660 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PPA1 Gene

neXtProt entry for PPA1 Gene

Selected DME Specific Peptides for PPA1 Gene

Q15181:
  • DEGETDWK
  • EERAAPF
  • KPGYLEAT
  • AIVDALPPPCESAC
  • PQTWEDP
  • WKALVTKKT
  • LNPIKQD
  • YKVPDGKP
  • PTDVDKWFH
  • GDNDPIDVCEIGSK
  • SPFHDIP
  • LEYRVFLKNEKGQYISPFHD
  • DIIKSTHD

Post-translational modifications for PPA1 Gene

  • Ubiquitination at isoforms=70, posLast=128128, isoforms=253, isoforms=179, isoforms=25, isoforms=238, and posLast=176176
  • Modification sites at PhosphoSitePlus

Other Protein References for PPA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PPA1 Gene

Gene Families for PPA1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PPA1 Gene

Suggested Antigen Peptide Sequences for PPA1 Gene

GenScript: Design optimal peptide antigens:
  • Pyrophosphate phospho-hydrolase (IPYR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15181

UniProtKB/Swiss-Prot:

IPYR_HUMAN :
  • Belongs to the PPase family.
Family:
  • Belongs to the PPase family.
genes like me logo Genes that share domains with PPA1: view

Function for PPA1 Gene

Molecular function for PPA1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=diphosphate + H2O = H(+) + 2 phosphate; Xref=Rhea:RHEA:24576, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:43474; EC=3.6.1.1;.

Enzyme Numbers (IUBMB) for PPA1 Gene

Phenotypes From GWAS Catalog for PPA1 Gene

Gene Ontology (GO) - Molecular Function for PPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004427 inorganic diphosphatase activity IEA,IBA 21873635
GO:0016462 pyrophosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PPA1: view
genes like me logo Genes that share phenotypes with PPA1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PPA1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPA1

Clone Products

  • Applied Biological Materials (abm): Clones for PPA1 - Now 50% OFF >
  • * PPA1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PPA1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPA1 Gene

Localization for PPA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPA1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPA1 gene
Compartment Confidence
cytosol 5
plasma membrane 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,TAS 16130169
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with PPA1: view

Pathways & Interactions for PPA1 Gene

genes like me logo Genes that share pathways with PPA1: view

Pathways by source for PPA1 Gene

Gene Ontology (GO) - Biological Process for PPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006796 phosphate-containing compound metabolic process IBA,IEA 21873635
GO:0071344 diphosphate metabolic process TAS --
genes like me logo Genes that share ontologies with PPA1: view

No data available for SIGNOR curated interactions for PPA1 Gene

Drugs & Compounds for PPA1 Gene

(26) Drugs for PPA1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(18) Additional Compounds for PPA1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with PPA1: view

Transcripts for PPA1 Gene

mRNA/cDNA for PPA1 Gene

Unigene Clusters for PPA1 Gene

Pyrophosphatase (inorganic) 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPA1

Clone Products

  • Applied Biological Materials (abm): Clones for PPA1 - Now 50% OFF >
  • * PPA1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PPA1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for PPA1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: - - - -
SP2: -
SP3: - - - -
SP4:
SP5: - -
SP6:

Relevant External Links for PPA1 Gene

GeneLoc Exon Structure for
PPA1
ECgene alternative splicing isoforms for
PPA1

Expression for PPA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPA1 Gene

Protein differential expression in normal tissues from HIPED for PPA1 Gene

This gene is overexpressed in Retina (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPA1 Gene



Protein tissue co-expression partners for PPA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPA1 Gene:

PPA1

SOURCE GeneReport for Unigene cluster for PPA1 Gene:

Hs.437403

mRNA Expression by UniProt/SwissProt for PPA1 Gene:

Q15181-IPYR_HUMAN
Tissue specificity: Expressed ubiquitously.

Evidence on tissue expression from TISSUES for PPA1 Gene

  • Nervous system(5)
  • Liver(4.5)
  • Adrenal gland(4.4)
  • Heart(4.4)
  • Pancreas(3.3)
  • Intestine(2.9)
  • Lung(2.2)
  • Eye(2.1)
  • Kidney(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with PPA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPA1 Gene

Orthologs for PPA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPA1 35 34
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPA1 35 34
  • 92.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPA1 35 34
  • 92.16 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ppa1 17 35 34
  • 88.24 (n)
rat
(Rattus norvegicus)
Mammalia Ppa1 34
  • 87.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPA1 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPA1 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPA1 35 34
  • 75 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPA1 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppa2 34
  • 72.49 (n)
Str.15980 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10406 34
zebrafish
(Danio rerio)
Actinopterygii ppa1b 35 34
  • 69.82 (n)
OneToMany
ppa1a 35
  • 64 (a)
OneToMany
zgc73156 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10308 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003398 34
  • 56.12 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nurf-38 34 35
  • 54.82 (n)
worm
(Caenorhabditis elegans)
Secernentea pyp-1 35 34
  • 60.93 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IPP1 35 34 37
  • 58.67 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17667g 34
  • 58 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER015C 34
  • 53.31 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PPa6 34
  • 57.86 (n)
rice
(Oryza sativa)
Liliopsida Os02g0768600 34
  • 53.39 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10318 35
  • 58 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC23C11.05 34
  • 54.92 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00951 34
  • 54.15 (n)
Species where no ortholog for PPA1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPA1 Gene

ENSEMBL:
Gene Tree for PPA1 (if available)
TreeFam:
Gene Tree for PPA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPA1: view image

Paralogs for PPA1 Gene

Paralogs for PPA1 Gene

(1) SIMAP similar genes for PPA1 Gene using alignment to 2 proteins:

  • IPYR_HUMAN
  • Q5SQT6_HUMAN

Pseudogenes.org Pseudogenes for PPA1 Gene

genes like me logo Genes that share paralogs with PPA1: view

Variants for PPA1 Gene

Sequence variations from dbSNP and Humsavar for PPA1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
VAR_036358 A breast cancer sample p.Lys57Asn
rs7077538 benign, not specified 70,233,338(-) T/G 5_prime_UTR_variant, non_coding_transcript_variant
rs1000041882 -- 70,229,618(-) A/G intron_variant
rs1000103873 -- 70,225,582(-) G/A/T intron_variant
rs1000136142 -- 70,229,821(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PPA1 Gene

Variant ID Type Subtype PubMed ID
esv32737 CNV gain+loss 17666407
nsv831908 CNV gain 17160897

Variation tolerance for PPA1 Gene

Residual Variation Intolerance Score: 36.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPA1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPA1 Gene

Disorders for PPA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPA1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
baylisascariasis
  • infection by baylisascaris
- elite association - COSMIC cancer census association via MalaCards
Search PPA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PPA1

genes like me logo Genes that share disorders with PPA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPA1 Gene

Publications for PPA1 Gene

  1. Cloning and expression profile of human inorganic pyrophosphatase. (PMID: 10542310) Fairchild TA … Patejunas G (Biochimica et biophysica acta 1999) 2 3 4 23 58
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58
  5. Assignment of the inorganic pyrophosphatase gene locus (PP) to chromosome 10 in man. (PMID: 975879) McAlpine PJ … Hamerton JL (Cytogenetics and cell genetics 1976) 2 3 58

Products for PPA1 Gene

Sources for PPA1 Gene

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