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UniProtKB - Q9H2U2 (IPYR2_HUMAN)

Entry version 172 (29 Sep 2021)
Sequence version 2 (17 Oct 2006)
Previous versions | rss
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Protein

Inorganic pyrophosphatase 2, mitochondrial

Gene

PPA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Hydrolyzes inorganic pyrophosphate (PubMed:27523597).

This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function (PubMed:27523598).

2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi164Magnesium 1By similarity1
Metal bindingi169Magnesium 1By similarity1
Metal bindingi169Magnesium 2By similarity1
Metal bindingi201Magnesium 1By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
LigandMagnesium, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.6.1.1, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9H2U2

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-379726, Mitochondrial tRNA aminoacylation
R-HSA-71737, Pyrophosphate hydrolysis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Inorganic pyrophosphatase 2, mitochondrial1 Publication (EC:3.6.1.11 Publication)
Alternative name(s):
Pyrophosphatase SID6-306
Pyrophosphate phospho-hydrolase 2
Short name:
PPase 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PPA2
ORF Names:HSPC124
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:28883, PPA2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609988, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9H2U2

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000138777

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Sudden cardiac failure, alcohol-induced (SCFAI)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by sudden death due to unexpected cardiac arrest following ingestion of small amounts of alcohol.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077871172E → K in SCFI and SCFAI; loss of function in regulation of mitochondrial membrane potential; decreased inorganic diphosphatase activity. 2 PublicationsCorresponds to variant dbSNP:rs146013446EnsemblClinVar.1
Natural variantiVAR_077872228P → L in SCFAI; decreased inorganic diphosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs138215926EnsemblClinVar.1
Sudden cardiac failure, infantile (SCFI)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disease characterized by sudden death within the first 2 years of life due to unexpected cardiac arrest. Some patients manifest hypertrophic cardiomyopathy, lipid accumulation in myocardium, degeneration of mitochondrial cristae, metabolic acidosis, and elevated plasma lactate levels. SCFI transmission pattern is consistent with autosomal recessive inheritance.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07786661S → P in SCFI; loss of function in regulation of mitochondrial membrane potential. 1 Publication1
Natural variantiVAR_07786794M → V in SCFI. 1 PublicationCorresponds to variant dbSNP:rs1057517679EnsemblClinVar.1
Natural variantiVAR_077868106M → I in SCFI. 1 PublicationCorresponds to variant dbSNP:rs1057517680EnsemblClinVar.1
Natural variantiVAR_077869127R → L in SCFI. 1 PublicationCorresponds to variant dbSNP:rs139076647EnsemblClinVar.1
Natural variantiVAR_077870167P → L in SCFI; decreased inorganic diphosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs546693824EnsemblClinVar.1
Natural variantiVAR_077871172E → K in SCFI and SCFAI; loss of function in regulation of mitochondrial membrane potential; decreased inorganic diphosphatase activity. 2 PublicationsCorresponds to variant dbSNP:rs146013446EnsemblClinVar.1
Natural variantiVAR_077873294Q → P in SCFI. 1 PublicationCorresponds to variant dbSNP:rs1057517678EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		27068

MalaCards human disease database

More...MalaCardsi		PPA2
MIMi617222, phenotype
617223, phenotype

Open Targets

More...OpenTargetsi		ENSG00000138777

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671159

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9H2U2, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PPA2

Domain mapping of disease mutations (DMDM)

More...DMDMi		116242592

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 32MitochondrionCombined sources1 PublicationAdd BLAST32
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002541133 – 334Inorganic pyrophosphatase 2, mitochondrialAdd BLAST302

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei216N6-succinyllysineBy similarity1
Modified residuei224N6-acetyllysineBy similarity1
Modified residuei259N6-succinyllysineBy similarity1
Modified residuei261N6-acetyllysineCombined sources1
Modified residuei317PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9H2U2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9H2U2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9H2U2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9H2U2

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9H2U2

PeptideAtlas

More...PeptideAtlasi		Q9H2U2

PRoteomics IDEntifications database

More...PRIDEi		Q9H2U2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		31561
80594 [Q9H2U2-1]
80595 [Q9H2U2-2]
80596 [Q9H2U2-3]
80597 [Q9H2U2-4]

2D gel databases

USC-OGP 2-DE database

More...OGPi		Q9H2U2

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9H2U2, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9H2U2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9H2U2

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9H2U2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in brain, gastric carcinoma, lung, ovary, skeletal muscle, umbilical cord blood and a cell line derived from kidney proximal tubule epithelium.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000138777, Expressed in calcaneal tendon and 237 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9H2U2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9H2U2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000138777, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		117979, 108 interactors

Protein interaction database and analysis system

More...IntActi		Q9H2U2, 26 interactors

Molecular INTeraction database

More...MINTi		Q9H2U2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000343885

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9H2U2, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9H2U2

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PPase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1626, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000017004

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_1763017_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9H2U2

Identification of Orthologs from Complete Genome Data

More...OMAi		YANDDKT

Database of Orthologous Groups

More...OrthoDBi		1398991at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9H2U2

TreeFam database of animal gene trees

More...TreeFami		TF300887

Family and domain databases

Conserved Domains Database

More...CDDi		cd00412, pyrophosphatase, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.90.80.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008162, Pyrophosphatase
IPR036649, Pyrophosphatase_sf

The PANTHER Classification System

More...PANTHERi		PTHR10286, PTHR10286, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00719, Pyrophosphatase, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50324, SSF50324, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00387, PPASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H2U2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL 
        60         70         80         90        100
FFKNVTGHYI SPFHDIPLKV NSKEENGIPM KKARNDEYEN LFNMIVEIPR 
       110        120        130        140        150
WTNAKMEIAT KEPMNPIKQY VKDGKLRYVA NIFPYKGYIW NYGTLPQTWE 
       160        170        180        190        200
DPHEKDKSTN CFGDNDPIDV CEIGSKILSC GEVIHVKILG ILALIDEGET 
       210        220        230        240        250
DWKLIAINAN DPEASKFHDI DDVKKFKPGY LEATLNWFRL YKVPDGKPEN 
       260        270        280        290        300
QFAFNGEFKN KAFALEVIKS THQCWKALLM KKCNGGAINC TNVQISDSPF 
       310        320        330 
RCTQEEARSL VESVSSSPNK ESNEEEQVWH FLGK
Length:334
Mass (Da):37,920
Last modified:October 17, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF8C85F64CDA447F1
GO
Isoform 2 (identifier: Q9H2U2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     74-74: E → EDTEAQGIFIDLSKIW

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:349
Mass (Da):39,638
Checksum:i44938DDEB36C8789
GO
Isoform 3 (identifier: Q9H2U2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     148-176: Missing.

Show »
Length:305
Mass (Da):34,658
Checksum:iACC551F07BE228AE
GO
Isoform 4 (identifier: Q9H2U2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-53: K → N
     54-219: Missing.

Show »
Length:168
Mass (Da):18,916
Checksum:i9CADD542FA7E7569
GO
Isoform 5 (identifier: Q9H2U2-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     75-176: Missing.

Show »
Length:232
Mass (Da):25,992
Checksum:i2D41198AF19951A5
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RGV9D6RGV9_HUMAN
Inorganic diphosphatase
PPA2
195Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6R967D6R967_HUMAN
Inorganic diphosphatase
PPA2
191Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RGI1D6RGI1_HUMAN
Inorganic diphosphatase
PPA2
88Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y9D8H0Y9D8_HUMAN
Inorganic diphosphatase
PPA2
226Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YAK2H0YAK2_HUMAN
Inorganic diphosphatase
PPA2
69Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RAD3D6RAD3_HUMAN
Inorganic diphosphatase
PPA2
113Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DGB9A0A0C4DGB9_HUMAN
Inorganic diphosphatase
PPA2
63Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8X2H0Y8X2_HUMAN
Inorganic pyrophosphatase 2, mitoch...
PPA2
42Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W7R6F8W7R6_HUMAN
Inorganic pyrophosphatase 2, mitoch...
PPA2
55Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF29088 differs from that shown. Aberrant splicing.Curated
The sequence AAF29088 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA84701 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA91184 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
The sequence BAG59609 differs from that shown. Intron retention.Curated
The sequence CAB66590 differs from that shown. Reason: Frameshift.Curated
The sequence CAB66590 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti11G → V in BAA84701 (Ref. 1) Curated1
Sequence conflicti11G → V in AAG36781 (Ref. 2) Curated1
Sequence conflicti19R → G in CAB66590 (PubMed:11230166).Curated1
Sequence conflicti103N → K in CAB66590 (PubMed:11230166).Curated1
Sequence conflicti241Y → C in CAB66590 (PubMed:11230166).Curated1
Sequence conflicti288I → T in CAB66590 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07786661S → P in SCFI; loss of function in regulation of mitochondrial membrane potential. 1 Publication1
Natural variantiVAR_07786794M → V in SCFI. 1 PublicationCorresponds to variant dbSNP:rs1057517679EnsemblClinVar.1
Natural variantiVAR_077868106M → I in SCFI. 1 PublicationCorresponds to variant dbSNP:rs1057517680EnsemblClinVar.1
Natural variantiVAR_077869127R → L in SCFI. 1 PublicationCorresponds to variant dbSNP:rs139076647EnsemblClinVar.1
Natural variantiVAR_077870167P → L in SCFI; decreased inorganic diphosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs546693824EnsemblClinVar.1
Natural variantiVAR_077871172E → K in SCFI and SCFAI; loss of function in regulation of mitochondrial membrane potential; decreased inorganic diphosphatase activity. 2 PublicationsCorresponds to variant dbSNP:rs146013446EnsemblClinVar.1
Natural variantiVAR_077872228P → L in SCFAI; decreased inorganic diphosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs138215926EnsemblClinVar.1
Natural variantiVAR_019723282K → N3 PublicationsCorresponds to variant dbSNP:rs13787Ensembl.1
Natural variantiVAR_077873294Q → P in SCFI. 1 PublicationCorresponds to variant dbSNP:rs1057517678EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_01164953K → N in isoform 4. 1 Publication1
Alternative sequenceiVSP_01165054 – 219Missing in isoform 4. 1 PublicationAdd BLAST166
Alternative sequenceiVSP_01165174E → EDTEAQGIFIDLSKIW in isoform 2. 2 Publications1
Alternative sequenceiVSP_04625675 – 176Missing in isoform 5. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_011652148 – 176Missing in isoform 3. 2 PublicationsAdd BLAST29

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB026722 mRNA Translation: BAA84701.1 Different initiation.
AF217187 mRNA Translation: AAG36781.1
AK000466 mRNA Translation: BAA91184.1 Sequence problems.
AK297096 mRNA Translation: BAG59609.1 Sequence problems.
AC004066 Genomic DNA No translation available.
AC106888 Genomic DNA Translation: AAY41040.1
BC022803 mRNA Translation: AAH22803.1
BC039462 mRNA Translation: AAH39462.2
BC057219 mRNA Translation: AAH57219.1
AF161473 mRNA Translation: AAF29088.1 Sequence problems.
AL136655 mRNA Translation: CAB66590.2 Sequence problems.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34043.1 [Q9H2U2-4]
CCDS3667.1 [Q9H2U2-1]
CCDS3668.2 [Q9H2U2-3]
CCDS3669.2 [Q9H2U2-6]

NCBI Reference Sequences

More...RefSeqi		NP_008834.3, NM_006903.4 [Q9H2U2-3]
NP_789842.2, NM_176866.2 [Q9H2U2-6]
NP_789843.2, NM_176867.3 [Q9H2U2-4]
NP_789845.1, NM_176869.2 [Q9H2U2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000341695; ENSP00000343885; ENSG00000138777 [Q9H2U2-1]
ENST00000348706; ENSP00000313061; ENSG00000138777 [Q9H2U2-3]
ENST00000354147; ENSP00000340352; ENSG00000138777 [Q9H2U2-4]
ENST00000432483; ENSP00000389957; ENSG00000138777 [Q9H2U2-6]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		27068

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:27068

UCSC genome browser

More...UCSCi		uc003hxl.4, human [Q9H2U2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB026722 mRNA Translation: BAA84701.1 Different initiation.
AF217187 mRNA Translation: AAG36781.1
AK000466 mRNA Translation: BAA91184.1 Sequence problems.
AK297096 mRNA Translation: BAG59609.1 Sequence problems.
AC004066 Genomic DNA No translation available.
AC106888 Genomic DNA Translation: AAY41040.1
BC022803 mRNA Translation: AAH22803.1
BC039462 mRNA Translation: AAH39462.2
BC057219 mRNA Translation: AAH57219.1
AF161473 mRNA Translation: AAF29088.1 Sequence problems.
AL136655 mRNA Translation: CAB66590.2 Sequence problems.
CCDSiCCDS34043.1 [Q9H2U2-4]
CCDS3667.1 [Q9H2U2-1]
CCDS3668.2 [Q9H2U2-3]
CCDS3669.2 [Q9H2U2-6]
RefSeqiNP_008834.3, NM_006903.4 [Q9H2U2-3]
NP_789842.2, NM_176866.2 [Q9H2U2-6]
NP_789843.2, NM_176867.3 [Q9H2U2-4]
NP_789845.1, NM_176869.2 [Q9H2U2-1]

3D structure databases

SMRiQ9H2U2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi117979, 108 interactors
IntActiQ9H2U2, 26 interactors
MINTiQ9H2U2
STRINGi9606.ENSP00000343885

PTM databases

GlyGeniQ9H2U2, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ9H2U2
PhosphoSitePlusiQ9H2U2
SwissPalmiQ9H2U2

Genetic variation databases

BioMutaiPPA2
DMDMi116242592

2D gel databases

OGPiQ9H2U2

Proteomic databases

EPDiQ9H2U2
jPOSTiQ9H2U2
MassIVEiQ9H2U2
MaxQBiQ9H2U2
PaxDbiQ9H2U2
PeptideAtlasiQ9H2U2
PRIDEiQ9H2U2
ProteomicsDBi31561
80594 [Q9H2U2-1]
80595 [Q9H2U2-2]
80596 [Q9H2U2-3]
80597 [Q9H2U2-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26143, 114 antibodies

The DNASU plasmid repository

More...DNASUi		27068

Genome annotation databases

EnsembliENST00000341695; ENSP00000343885; ENSG00000138777 [Q9H2U2-1]
ENST00000348706; ENSP00000313061; ENSG00000138777 [Q9H2U2-3]
ENST00000354147; ENSP00000340352; ENSG00000138777 [Q9H2U2-4]
ENST00000432483; ENSP00000389957; ENSG00000138777 [Q9H2U2-6]
GeneIDi27068
KEGGihsa:27068
UCSCiuc003hxl.4, human [Q9H2U2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		27068
DisGeNETi27068

GeneCards: human genes, protein and diseases

More...GeneCardsi		PPA2
HGNCiHGNC:28883, PPA2
HPAiENSG00000138777, Low tissue specificity
MalaCardsiPPA2
MIMi609988, gene
617222, phenotype
617223, phenotype
neXtProtiNX_Q9H2U2
OpenTargetsiENSG00000138777
PharmGKBiPA142671159
VEuPathDBiHostDB:ENSG00000138777

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1626, Eukaryota
GeneTreeiENSGT00390000017004
HOGENOMiCLU_1763017_0_0_1
InParanoidiQ9H2U2
OMAiYANDDKT
OrthoDBi1398991at2759
PhylomeDBiQ9H2U2
TreeFamiTF300887

Enzyme and pathway databases

BRENDAi3.6.1.1, 2681
PathwayCommonsiQ9H2U2
ReactomeiR-HSA-379726, Mitochondrial tRNA aminoacylation
R-HSA-71737, Pyrophosphate hydrolysis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		27068, 289 hits in 1024 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PPA2, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		27068
PharosiQ9H2U2, Tbio

Protein Ontology

More...PROi		PR:Q9H2U2
RNActiQ9H2U2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000138777, Expressed in calcaneal tendon and 237 other tissues
ExpressionAtlasiQ9H2U2, baseline and differential
GenevisibleiQ9H2U2, HS

Family and domain databases

CDDicd00412, pyrophosphatase, 1 hit
Gene3Di3.90.80.10, 1 hit
InterProiView protein in InterPro
IPR008162, Pyrophosphatase
IPR036649, Pyrophosphatase_sf
PANTHERiPTHR10286, PTHR10286, 1 hit
PfamiView protein in Pfam
PF00719, Pyrophosphatase, 1 hit
SUPFAMiSSF50324, SSF50324, 1 hit
PROSITEiView protein in PROSITE
PS00387, PPASE, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiIPYR2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H2U2
Secondary accession number(s): B4DLP7
, F8WDN9, I6L9B6, Q4W5E9, Q6PG51, Q8TBW0, Q96E55, Q9H0T0, Q9NX37, Q9P033, Q9ULX0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: October 17, 2006
Last modified: September 29, 2021
This is version 172 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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