Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Inorganic pyrophosphatase 2, mitochondrial

Gene

PPA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

Diphosphate + H2O = 2 phosphate.

Cofactori

Mg2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi164Magnesium 1By similarity1
Metal bindingi169Magnesium 1By similarity1
Metal bindingi169Magnesium 2By similarity1
Metal bindingi201Magnesium 1By similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Magnesium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:HS06557-MONOMER.
BRENDAi3.6.1.1. 2681.
ReactomeiR-HSA-379726. Mitochondrial tRNA aminoacylation.
R-HSA-71737. Pyrophosphate hydrolysis.

Names & Taxonomyi

Protein namesi
Recommended name:
Inorganic pyrophosphatase 2, mitochondrial (EC:3.6.1.1)
Alternative name(s):
Pyrophosphatase SID6-306
Pyrophosphate phospho-hydrolase 2
Short name:
PPase 2
Gene namesi
Name:PPA2
ORF Names:HSPC124
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:28883. PPA2.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • mitochondrial matrix Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi27068.
OpenTargetsiENSG00000138777.
PharmGKBiPA142671159.

Polymorphism and mutation databases

BioMutaiPPA2.
DMDMi116242592.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 32MitochondrionCombined sources1 PublicationAdd BLAST32
ChainiPRO_000002541133 – 334Inorganic pyrophosphatase 2, mitochondrialAdd BLAST302

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

EPDiQ9H2U2.
MaxQBiQ9H2U2.
PaxDbiQ9H2U2.
PeptideAtlasiQ9H2U2.
PRIDEiQ9H2U2.

2D gel databases

OGPiQ9H2U2.

PTM databases

iPTMnetiQ9H2U2.
PhosphoSitePlusiQ9H2U2.
SwissPalmiQ9H2U2.

Expressioni

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

BgeeiENSG00000138777.
CleanExiHS_PPA2.
ExpressionAtlasiQ9H2U2. baseline and differential.
GenevisibleiQ9H2U2. HS.

Organism-specific databases

HPAiHPA030888.
HPA031671.
HPA031672.

Interactioni

Subunit structurei

Homodimer.By similarity

Protein-protein interaction databases

BioGridi117979. 38 interactors.
IntActiQ9H2U2. 5 interactors.
MINTiMINT-3066899.
STRINGi9606.ENSP00000343885.

Structurei

3D structure databases

ProteinModelPortaliQ9H2U2.
SMRiQ9H2U2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PPase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1626. Eukaryota.
COG0221. LUCA.
GeneTreeiENSGT00390000017004.
HOVERGENiHBG000491.
InParanoidiQ9H2U2.
KOiK01507.
OMAiISCTNIT.
OrthoDBiEOG091G0KFV.
PhylomeDBiQ9H2U2.
TreeFamiTF300887.

Family and domain databases

CDDicd00412. pyrophosphatase. 1 hit.
Gene3Di3.90.80.10. 1 hit.
InterProiIPR008162. Pyrophosphatase.
[Graphical view]
PANTHERiPTHR10286. PTHR10286. 1 hit.
PfamiPF00719. Pyrophosphatase. 1 hit.
[Graphical view]
SUPFAMiSSF50324. SSF50324. 1 hit.
PROSITEiPS00387. PPASE. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
Show »
Length:232
Mass (Da):25,992
Checksum:i2D41198AF19951A5
GO

Sequence cautioni

The sequence AAF29088 differs from that shown. Aberrant splicing.Curated
The sequence AAF29088 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA84701 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA91184 differs from that shown. Reason: Erroneous termination at position 59. Translated as Tyr.Curated
The sequence BAG59609 differs from that shown. Intron retention.Curated
The sequence CAB66590 differs from that shown. Reason: Frameshift at position 75.Curated
The sequence CAB66590 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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_019723282K → N.3 PublicationsCorresponds to variant rs13787dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.654957.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.654957.

3D structure databases

ProteinModelPortaliQ9H2U2.
SMRiQ9H2U2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117979. 38 interactors.
IntActiQ9H2U2. 5 interactors.
MINTiMINT-3066899.
STRINGi9606.ENSP00000343885.

PTM databases

iPTMnetiQ9H2U2.
PhosphoSitePlusiQ9H2U2.
SwissPalmiQ9H2U2.

Polymorphism and mutation databases

BioMutaiPPA2.
DMDMi116242592.

2D gel databases

OGPiQ9H2U2.

Proteomic databases

EPDiQ9H2U2.
MaxQBiQ9H2U2.
PaxDbiQ9H2U2.
PeptideAtlasiQ9H2U2.
PRIDEiQ9H2U2.

Protocols and materials databases

DNASUi27068.
Structural Biology KnowledgebaseSearch...

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

CTDi27068.
DisGeNETi27068.
GeneCardsiPPA2.
HGNCiHGNC:28883. PPA2.
HPAiHPA030888.
HPA031671.
HPA031672.
MIMi609988. gene.
neXtProtiNX_Q9H2U2.
OpenTargetsiENSG00000138777.
PharmGKBiPA142671159.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1626. Eukaryota.
COG0221. LUCA.
GeneTreeiENSGT00390000017004.
HOVERGENiHBG000491.
InParanoidiQ9H2U2.
KOiK01507.
OMAiISCTNIT.
OrthoDBiEOG091G0KFV.
PhylomeDBiQ9H2U2.
TreeFamiTF300887.

Enzyme and pathway databases

BioCyciZFISH:HS06557-MONOMER.
BRENDAi3.6.1.1. 2681.
ReactomeiR-HSA-379726. Mitochondrial tRNA aminoacylation.
R-HSA-71737. Pyrophosphate hydrolysis.

Miscellaneous databases

ChiTaRSiPPA2. human.
GenomeRNAii27068.
PROiQ9H2U2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138777.
CleanExiHS_PPA2.
ExpressionAtlasiQ9H2U2. baseline and differential.
GenevisibleiQ9H2U2. HS.

Family and domain databases

CDDicd00412. pyrophosphatase. 1 hit.
Gene3Di3.90.80.10. 1 hit.
InterProiIPR008162. Pyrophosphatase.
[Graphical view]
PANTHERiPTHR10286. PTHR10286. 1 hit.
PfamiPF00719. Pyrophosphatase. 1 hit.
[Graphical view]
SUPFAMiSSF50324. SSF50324. 1 hit.
PROSITEiPS00387. PPASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIPYR2_HUMAN
AccessioniPrimary (citable) accession number: Q9H2U2
Secondary accession number(s): B4DLP7
, F8WDN9, I6L9B6, Q4W5E9, Q6PG51, Q8TBW0, Q96E55, Q9H0T0, Q9NX37, Q9P033, Q9ULX0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: October 17, 2006
Last modified: November 2, 2016
This is version 141 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, 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 polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.