Reviewed,
UniProtKB/Swiss-Prot Q9H2U2 (IPYR2_HUMAN)
Last modified
November 3, 2009.
Version 72.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Inorganic pyrophosphatase 2, mitochondrial Short name=PPase 2 EC=3.6.1.1 Alternative name(s): Pyrophosphatase SID6-306 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 334 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Catalytic activity | Diphosphate + H2O = 2 phosphate. |
| Cofactor | Magnesium By similarity. |
| Subunit structure | Homodimer By similarity. |
| Subcellular location | Mitochondrion Potential. |
| Tissue specificity | Detected in brain, gastric carcinoma, lung, ovary, skeletal muscle, umbilical cord blood and a cell line derived from kidney proximal tubule epithelium. Ref.8 |
| Sequence similarities | Belongs to the PPase family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Mitochondrion |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transit peptide |
| Ligand | Magnesium Metal-binding |
| Molecular function | Hydrolase |
| PTM | Acetylation Phosphoprotein |
| Technical term | Complete proteome Direct protein sequencing |
| Gene Ontology (GO) | |
| Biological process | phosphate metabolic process Inferred from electronic annotation. Source: InterPro |
| Cellular component | mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | inorganic diphosphatase activity Inferred from electronic annotation. Source: EC magnesium ion bindingInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9H2U2-1) 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. | ||||||
| Isoform 2 (identifier: Q9H2U2-2) The sequence of this isoform differs from the canonical sequence as follows: 74-74: E → EDTEAQGIFIDLSKIW | ||||||
| Isoform 3 (identifier: Q9H2U2-3) The sequence of this isoform differs from the canonical sequence as follows: 148-176: Missing. | ||||||
| Isoform 4 (identifier: Q9H2U2-4) The sequence of this isoform differs from the canonical sequence as follows: 53-53: K → N 54-219: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q9H2U2-5) The sequence of this isoform differs from the canonical sequence as follows: 53-334: KNVTGHYISP...EEQVWHFLGK → RPSAVAARSR...PAHTPAFLEA | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – 32 | 32 | Mitochondrion Ref.7 | ||||||
| Chain | 33 – 334 | 302 | Inorganic pyrophosphatase 2, mitochondrial | PRO_0000025411 | |||||
Sites | |||||||||
| Metal binding | 164 | 1 | Magnesium 1 By similarity | ||||||
| Metal binding | 169 | 1 | Magnesium 1 By similarity | ||||||
| Metal binding | 169 | 1 | Magnesium 2 By similarity | ||||||
| Metal binding | 201 | 1 | Magnesium 1 By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 53 | 1 | N6-acetyllysine Ref.11 | ||||||
| Modified residue | 216 | 1 | N6-acetyllysine Ref.11 | ||||||
| Modified residue | 261 | 1 | N6-acetyllysine Ref.11 | ||||||
| Modified residue | 276 | 1 | N6-acetyllysine Ref.11 | ||||||
| Modified residue | 317 | 1 | Phosphoserine Ref.9 | ||||||
Natural variations | |||||||||
| Alternative sequence | 53 – 334 | 282 | KNVTG…HFLGK → RPSAVAARSRPPYFPRERAP SHENCQRGGGGSRPQSGEQR RRAAGWGVDSALCPASRPPR GVGRVQAATPRRPAAISRPG RRSRFTQLSEEGKAEPAHTP AFLEA in isoform 5. | VSP_011648 | |||||
| Alternative sequence | 53 | 1 | K → N in isoform 4. | VSP_011649 | |||||
| Alternative sequence | 54 – 219 | 166 | Missing in isoform 4. | VSP_011650 | |||||
| Alternative sequence | 74 | 1 | E → EDTEAQGIFIDLSKIW in isoform 2. | VSP_011651 | |||||
| Alternative sequence | 148 – 176 | 29 | Missing in isoform 3. | VSP_011652 | |||||
| Natural variant | 282 | 1 | K → N: dbSNP rs13787. Ref.3 Ref.5 Ref.6 | VAR_019723 | |||||
Experimental info | |||||||||
| Sequence conflict | 11 | 1 | G → V in BAA84701. Ref.1 | ||||||
| Sequence conflict | 11 | 1 | G → V in AAG36781. Ref.2 | ||||||
| Sequence conflict | 75 – 79 | 5 | ENGIP → DTEAQGIFIDLSKIWKMAFL Ref.6 | ||||||
| Sequence conflict | 103 | 1 | N → K Ref.6 | ||||||
| Sequence conflict | 241 | 1 | Y → C Ref.6 | ||||||
| Sequence conflict | 288 | 1 | I → T Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Putative inorganic pyrophosphatase." Saito T., Hattori A., Miyajima N. Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Brain. |
| [2] | "Cloning of the mitochondrial inorganic pyrophosphatase 2 cDNA." Kanni L., Johansson M., Karlsson A. Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5), VARIANT ASN-282. Tissue: Gastric carcinoma. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4 AND 5). Tissue: Lung, Ovary and Skeletal muscle. |
| [5] | "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. Chen Z.Genome Res. 10:1546-1560(2000) [PubMed: 11042152] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 13-334 (ISOFORM 2), VARIANT ASN-282. Tissue: Umbilical cord blood. |
| [6] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 20-334 (ISOFORM 1), VARIANT ASN-282. Tissue: Brain. |
| [7] | "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides." Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J. Nat. Biotechnol. 21:566-569(2003) [PubMed: 12665801] [Abstract] Cited for: PROTEIN SEQUENCE OF 33-40. Tissue: Platelet. |
| [8] | "Hypothetical proteins with putative enzyme activity in human amnion, lymphocyte, bronchial epithelial and kidney cell lines, AND MASS SPECTROMETRY." Afjehi-Sadat L., Krapfenbauer K., Slavc I., Fountoulakis M., Lubec G. Biochim. Biophys. Acta 1700:65-74(2004) [PubMed: 15210126] [Abstract] Cited for: MASS SPECTROMETRY, TISSUE SPECIFICITY. |
| [9] | "Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column." Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y. Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-317, MASS SPECTROMETRY. |
| [10] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [11] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-53; LYS-216; LYS-261 AND LYS-276, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AB026722 mRNA. Translation: BAA84701.1. Different initiation. AF217187 mRNA. Translation: AAG36781.1. AK000466 mRNA. Translation: BAA91184.1. Different initiation. AK297096 mRNA. Translation: BAG59609.1. BC012903 mRNA. Translation: AAH12903.1. BC022803 mRNA. Translation: AAH22803.1. BC057219 mRNA. Translation: AAH57219.1. AF161473 mRNA. Translation: AAF29088.1. Different initiation. AL136655 mRNA. Translation: CAB66590.2. Different initiation. | |
| IPI | IPI00301109. IPI00470502. IPI00470503. IPI00470504. IPI00470505. |
| RefSeq | NP_001029363.1. NP_008834.3. NP_789842.2. NP_789843.2. NP_789845.1. |
| UniGene | Hs.654957 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1WGI based on UniProtKB P00817. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9H2U2. |
PTM databases | |
| PhosphoSite | Q9H2U2. |
2-D gel databases | |
| OGP | Q9H2U2. |
Proteomic databases | |
| PeptideAtlas | Q9H2U2. |
| PRIDE | Q9H2U2. |
Genome annotation databases | |
| Ensembl | ENST00000310267; ENSP00000311150; ENSG00000138777; Homo sapiens. [Genome view] ENST00000341695; ENSP00000343885; ENSG00000138777; Homo sapiens. [Genome view] ENST00000348706; ENSP00000313061; ENSG00000138777; Homo sapiens. [Genome view] ENST00000351450; ENSP00000273977; ENSG00000138777; Homo sapiens. [Genome view] ENST00000354147; ENSP00000340352; ENSG00000138777; Homo sapiens. [Genome view] ENST00000357415; ENSP00000349996; ENSG00000138777; Homo sapiens. [Genome view] ENST00000380004; ENSP00000369340; ENSG00000138777; Homo sapiens. [Genome view] ENST00000432483; ENSP00000389957; ENSG00000138777; Homo sapiens. [Genome view] ENST00000457404; ENSP00000412634; ENSG00000138777; Homo sapiens. [Genome view] |
| GeneID | 27068. |
| KEGG | hsa:27068. |
| UCSC | uc003hxl.1. human. uc003hxn.1. human. uc003hxp.1. human. |
Organism-specific databases | |
| CTD | 27068. |
| GeneCards | GC04M106509. |
| H-InvDB | HIX0004419. |
| HGNC | HGNC:28883. PPA2. |
| MIM | 609988. gene. |
| PharmGKB | PA134944028. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q9H2U2. |
| OMA | WFFISGS. |
Enzyme and pathway databases | |
| BRENDA | 3.6.1.1. 247. |
Gene expression databases | |
| ArrayExpress | Q9H2U2. |
| Bgee | Q9H2U2. |
| CleanEx | HS_PPA2. |
| Genevestigator | Q9H2U2. |
| GermOnline | ENSG00000138777. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR008162. Pyrophosphatase. [Graphical view] |
| Gene3D | G3DSA:3.90.80.10. Pyrophosphatase. 1 hit. |
| PANTHER | PTHR10286. Pyrophosphatase. 1 hit. |
| Pfam | PF00719. Pyrophosphatase. 1 hit. [Graphical view] |
| ProDom | PD002014. Inorg_pphsph. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| PROSITE | PS00387. PPASE. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 49643. |
| SOURCE | Search... |
Entry information
| Entry name | IPYR2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H2U2 Secondary accession number(s): B4DLP7 Q9ULX0 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 4 Human chromosome 4: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


