Reviewed,
UniProtKB/Swiss-Prot O14829 (PPE1_HUMAN)
Last modified
June 16, 2009.
Version 99.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
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Names and origin
| Protein names | Recommended name: Serine/threonine-protein phosphatase with EF-hands 1 Short name=PPEF-1 EC=3.1.3.16 Alternative name(s): Protein phosphatase with EF calcium-binding domain Short name=PPEF Serine/threonine-protein phosphatase 7 Short name=PP7 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 653 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May have a role in the recovery or adaptation response of photoreceptors. May have a role in development. |
| Catalytic activity | A phosphoprotein + H2O = a protein + phosphate. |
| Cofactor | Binds 1 iron ion per subunit By similarity. Binds 1 manganese ion per subunit By similarity. Magnesium By similarity. |
| Enzyme regulation | Activated by calcium. |
| Tissue specificity | Detected in retina and retinal derived Y-79 retinoblastoma cells. Also found in fetal brain. |
| Sequence similarities | Belongs to the PPP phosphatase family. Contains 3 EF-hand domains. Contains 1 IQ domain. |
| biophysicochemical properties | pH dependence: Optimum pH is 8.0. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat |
| Ligand | Calcium Iron Magnesium Manganese Metal-binding |
| Molecular function | Hydrolase Protein phosphatase |
| Gene Ontology (GO) | |
| Biological process | detection of stimulus involved in sensory perception Inferred from electronic annotation. Source: InterPro protein amino acid dephosphorylation Ref.2Traceable author statement. Source: ProtInc |
| Molecular function | calcium ion binding Inferred from electronic annotation. Source: UniProtKB-KW iron ion bindingInferred from electronic annotation. Source: UniProtKB-KW magnesium ion bindingInferred from electronic annotation. Source: UniProtKB-KW manganese ion bindingInferred from electronic annotation. Source: UniProtKB-KW protein serine/threonine phosphatase activity Ref.2Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O14829-1) 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 1A (identifier: O14829-2) The sequence of this isoform differs from the canonical sequence as follows: 79-132: Missing. | ||||||
| Isoform 1B (identifier: O14829-3) The sequence of this isoform differs from the canonical sequence as follows: 328-355: Missing. | ||||||
| Isoform 2 (identifier: O14829-4) The sequence of this isoform differs from the canonical sequence as follows: 356-376: IIDILWSDPRGKNGCFPNTCR → SGYYGKQRHQDIKRESDFTKK 377-653: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 3 (identifier: O14829-5) The sequence of this isoform differs from the canonical sequence as follows: 356-417: Missing. | ||||||
| Note: May have no functional significance. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 653 | 653 | Serine/threonine-protein phosphatase with EF-hands 1 | PRO_0000058899 | |||||
Regions | |||||||||
| Domain | 16 – 45 | 30 | IQ | ||||||
| Domain | 483 – 518 | 36 | EF-hand 1 | ||||||
| Domain | 566 – 601 | 36 | EF-hand 2 | ||||||
| Domain | 606 – 641 | 36 | EF-hand 3 | ||||||
| Calcium binding | 579 – 590 | 12 | 1 Potential | ||||||
| Calcium binding | 619 – 630 | 12 | 2 Potential | ||||||
| Region | 121 – 455 | 335 | Catalytic | ||||||
Sites | |||||||||
| Active site | 234 | 1 | Proton donor By similarity | ||||||
| Metal binding | 172 | 1 | Iron By similarity | ||||||
| Metal binding | 174 | 1 | Iron By similarity | ||||||
| Metal binding | 201 | 1 | Iron By similarity | ||||||
| Metal binding | 201 | 1 | Manganese By similarity | ||||||
| Metal binding | 233 | 1 | Manganese By similarity | ||||||
| Metal binding | 285 | 1 | Manganese By similarity | ||||||
| Metal binding | 403 | 1 | Manganese By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 79 – 132 | 54 | Missing in isoform 1A. | VSP_005098 | |||||
| Alternative sequence | 328 – 355 | 28 | Missing in isoform 1B. | VSP_005099 | |||||
| Alternative sequence | 356 – 417 | 62 | Missing in isoform 3. | VSP_005102 | |||||
| Alternative sequence | 356 – 376 | 21 | IIDIL…PNTCR → SGYYGKQRHQDIKRESDFTK K in isoform 2. | VSP_005100 | |||||
| Alternative sequence | 377 – 653 | 277 | Missing in isoform 2. | VSP_005101 | |||||
| Natural variant | 367 | 1 | K → T: dbSNP rs1065074. Ref.2 | VAR_051736 | |||||
| Natural variant | 443 | 1 | G → S: dbSNP rs11796620. | VAR_051737 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C." Sherman P.M., Sun H., Macke J.P., Williams J., Smallwood P.M., Nathans J. Proc. Natl. Acad. Sci. U.S.A. 94:11639-11644(1997) [PubMed: 9326663] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina. |
| [2] | "A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin." Montini E., Rugarli E.I., van de Vosse E., Andolfi G., Mariani M., Puca A.A., Consales G.G., den Dunnen J.T., Ballabio A., Franco B. Hum. Mol. Genet. 6:1137-1145(1997) [PubMed: 9215685] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, VARIANT THR-367. Tissue: Fetal brain. |
| [3] | "Molecular cloning, expression, and characterization of a novel human serine/threonine protein phosphatase, PP7, that is homologous to Drosophila retinal degeneration C gene product (rdgC)." Huang X., Honkanen R.E. J. Biol. Chem. 273:1462-1468(1998) [PubMed: 9430683] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina. |
| [4] | "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]. Tissue: Brain. |
| [5] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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] (ISOFORM 1). Tissue: Testis. |
| [8] | "An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:RESEARCH008.1-RESEARCH008.16(2004) [PubMed: 14759258] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S). |
Cross-references
Sequence databases | |
|---|---|
| AF023455 mRNA. Translation: AAB82795.1. X97867 mRNA. Translation: CAA66461.1. AF027977 mRNA. Translation: AAC05825.1. AK290463 mRNA. Translation: BAF83152.1. AL096700, Z94056 Genomic DNA. Translation: CAI42857.1. Z94056, AL096700 Genomic DNA. Translation: CAI42777.1. CH471074 Genomic DNA. Translation: EAW98944.1. BC036026 mRNA. Translation: AAH36026.1. | |
| IPI | IPI00221149. IPI00221150. IPI00221151. IPI00513950. IPI00514326. |
| RefSeq | NP_006231.2. NP_689410.1. NP_689412.1. |
| UniGene | Hs.211589 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1K9U based on UniProtKB O82040. |
| ModBase | Search... |
Genome annotation databases | |
| Ensembl | ENSG00000086717. Homo sapiens. [Contig view] |
| GeneID | 5475. |
| KEGG | hsa:5475. |
Organism-specific databases | |
| GeneCards | GC0XP018618. |
| H-InvDB | HIX0028334. |
| HGNC | HGNC:9243. PPEF1. |
| MIM | 300109. gene. |
| PharmGKB | PA33564. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | O14829. |
| OMA | O14829. KLFSSHY. |
Enzyme and pathway databases | |
| BRENDA | 3.1.3.16. 247. |
Gene expression databases | |
| ArrayExpress | O14829. |
| Bgee | O14829. |
| CleanEx | HS_PPEF1. |
| GermOnline | ENSG00000086717. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011992. EF-Hand_type. IPR018248. EF_hand. IPR018247. EF_HAND_1. IPR018249. EF_HAND_2. IPR002048. EF_hand_Ca_bd. IPR000048. IQ_CaM_bd_region. IPR004843. M-pesterase. IPR012008. PPEF. IPR013235. PPP5. IPR006186. T_phtase_apaH. [Graphical view] |
| Gene3D | G3DSA:1.10.238.10. EF-Hand_type. 1 hit. |
| PANTHER | PTHR11668. T_phtase_apaH. 1 hit. |
| Pfam | PF00036. efhand. 2 hits. PF00612. IQ. 1 hit. PF00149. Metallophos. 1 hit. PF08321. PPP5. 1 hit. [Graphical view] |
| PIRSF | PIRSF000912. PPEF. 1 hit. |
| PRINTS | PR00114. STPHPHTASE. |
| ProDom | PD000012. EF-hand. 1 hit. PD000252. T_phtase_apaH. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| SMART | SM00054. EFh. 3 hits. SM00015. IQ. 1 hit. SM00156. PP2Ac. 1 hit. [Graphical view] |
| PROSITE | PS00018. EF_HAND_1. 2 hits. PS50222. EF_HAND_2. 3 hits. PS50096. IQ. 1 hit. PS00125. SER_THR_PHOSPHATASE. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 21194. |
| SOURCE | Search... |
Entry information
| Entry name | PPE1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O14829 Secondary accession number(s): A6NHP4 Q9UJH0 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: 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


