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O14830 (PPE2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 152. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Serine/threonine-protein phosphatase with EF-hands 2

Short name=PPEF-2
EC=3.1.3.16
Gene names
Name:PPEF2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length753 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in phototransduction. May dephosphorylate photoactivated rhodopsin. May function as a calcium sensing regulator of ionic currents, energy production or synaptic transmission.

Catalytic activity

[a protein]-serine/threonine phosphate + H2O = [a protein]-serine/threonine + phosphate.

Cofactor

Binds 2 manganese ions per subunit By similarity.

Enzyme regulation

Activated by calcium By similarity.

Subcellular location

Cytoplasm Probable. Cell projectionciliumphotoreceptor outer segment. Photoreceptor inner segment. Note: Localized to photoreceptors, PPEF-2(L) is at least 2 fold more abundant in rod inner segments than in the outer segments.

Tissue specificity

Retinal specific.

Sequence similarities

Belongs to the PPP phosphatase family.

Contains 3 EF-hand domains.

Contains 1 IQ domain.

Ontologies

Keywords
   Biological processSensory transduction
Vision
   Cellular componentCell projection
Cilium
Cytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   LigandCalcium
Manganese
Metal-binding
   Molecular functionHydrolase
Protein phosphatase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processdetection of stimulus involved in sensory perception

Inferred from electronic annotation. Source: InterPro

negative regulation of MAPK cascade

Inferred from direct assay PubMed 20674765. Source: BHF-UCL

negative regulation of peptidyl-threonine phosphorylation

Inferred from direct assay PubMed 20674765. Source: BHF-UCL

protein dephosphorylation

Traceable author statement Ref.1. Source: ProtInc

regulation of JUN kinase activity

Inferred by curator PubMed 20674765. Source: BHF-UCL

regulation of MAP kinase activity

Inferred by curator PubMed 20674765. Source: BHF-UCL

visual perception

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

photoreceptor inner segment

Inferred from electronic annotation. Source: UniProtKB-SubCell

photoreceptor outer segment

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionHsp70 protein binding

Inferred from direct assay PubMed 20674765. Source: BHF-UCL

Hsp90 protein binding

Inferred from direct assay PubMed 20674765. Source: BHF-UCL

calcium ion binding

Inferred from electronic annotation. Source: InterPro

iron ion binding

Inferred from electronic annotation. Source: InterPro

manganese ion binding

Inferred from electronic annotation. Source: InterPro

mitogen-activated protein kinase kinase kinase binding

Inferred from physical interaction PubMed 20674765. Source: BHF-UCL

protein binding

Inferred from physical interaction PubMed 12051765. Source: IntAct

protein serine/threonine phosphatase activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Calm3P622042EBI-2931306,EBI-397460From a different organism.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform PPEF-2(L) (identifier: O14830-1)

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 PPEF-2(S) (identifier: O14830-2)

The sequence of this isoform differs from the canonical sequence as follows:
     588-598: ITLSDWAAAVE → ASSQLCYYQQK
     599-753: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 753753Serine/threonine-protein phosphatase with EF-hands 2
PRO_0000058901

Regions

Domain21 – 4626IQ
Domain568 – 60336EF-hand 1
Domain652 – 68736EF-hand 2
Domain692 – 72736EF-hand 3
Calcium binding665 – 676121 Potential
Calcium binding705 – 716122 Potential
Region128 – 540413Catalytic

Sites

Active site2411Proton donor By similarity
Metal binding1791Manganese 1 By similarity
Metal binding1811Manganese 1 By similarity
Metal binding2081Manganese 1 By similarity
Metal binding2081Manganese 2 By similarity
Metal binding2401Manganese 2 By similarity
Metal binding2921Manganese 2 By similarity
Metal binding4881Manganese 2 By similarity

Natural variations

Alternative sequence588 – 59811ITLSDWAAAVE → ASSQLCYYQQK in isoform PPEF-2(S).
VSP_005103
Alternative sequence599 – 753155Missing in isoform PPEF-2(S).
VSP_005104
Natural variant1201S → R.
VAR_010230
Natural variant3941V → L.
Corresponds to variant rs34097437 [ dbSNP | Ensembl ].
VAR_055121
Natural variant4121E → K.
Corresponds to variant rs35599561 [ dbSNP | Ensembl ].
VAR_055122
Natural variant4811M → L. Ref.1
Corresponds to variant rs6858658 [ dbSNP | Ensembl ].
VAR_061759
Natural variant5531R → K.
Corresponds to variant rs34155925 [ dbSNP | Ensembl ].
VAR_055123
Natural variant5751S → C.
Corresponds to variant rs17000961 [ dbSNP | Ensembl ].
VAR_055124

Experimental info

Sequence conflict1181R → S in AAB82796. Ref.1
Sequence conflict1181R → S in AAB82797. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform PPEF-2(L) [UniParc].

Last modified May 5, 2009. Version 2.
Checksum: 28ED6E79C5B8906C

FASTA75386,518
        10         20         30         40         50         60 
MGSGTSTQHH FAFQNAERAF KAAALIQRWY RRYVARLEMR RRCTWSIFQS IEYAGQQDQV 

        70         80         90        100        110        120 
KLHDFFSYLM DHFIPSSHND RDFLTRIFTE DRFAQDSEMK KCSDYESIEV PDSYTGPRLS 

       130        140        150        160        170        180 
FPLLPDHATA LVEAFRLKQQ LHARYVLNLL YETKKHLVQL PNINRVSTCY SEEITVCGDL 

       190        200        210        220        230        240 
HGQLDDLIFI FYKNGLPSPE RSYVFNGDFV DRGKDSVEIL MILFAFMLVY PKEFHLNRGN 

       250        260        270        280        290        300 
HEDHMVNLRY GFTKEVMNKY KVHGKEILRT LQDVFCWLPL ATLIDEKVLI LHGGVSDITD 

       310        320        330        340        350        360 
LELLDKIERS KIVSTMRCKT RQKSEKQMEE KRRANQKSSA QGPIPWFLPE SRSLPSSPLR 

       370        380        390        400        410        420 
LGSYKAQKTS RSSSIPCSGS LDGRELSRQV RSSVELELER CRQQAGLLVT GEKEEPSRSA 

       430        440        450        460        470        480 
SEADSEAGEL RKPTQEEWRQ VVDILWSDPM AQEGCKANTI RGGGCYFGPD VTQQLLQKYN 

       490        500        510        520        530        540 
MQFLIRSHEC KPEGYEFCHN RKVLTIFSAS NYYEVGSNRG AYVKLGPALT PHIVQYQANK 

       550        560        570        580        590        600 
VTHTLTMRQR ISRVEESALR ALREKLFAHS SDLLSEFKKH DADKVGLITL SDWAAAVESV 

       610        620        630        640        650        660 
LHLGLPWRML RPQLVNSSAD NMLEYKSWLK NLAKEQLSRE NIQSSLLETL YRNRSNLETI 

       670        680        690        700        710        720 
FRIIDSDHSG FISLDEFRQT WKLFSSHMNI DITDDCICDL ARSIDFNKDG HIDINEFLEA 

       730        740        750 
FRLVEKSCPE GDASECPQAT NAKDSGCSSP GAH 

« Hide

Isoform PPEF-2(S) [UniParc].

Checksum: 6A27214098070B2D
Show »

FASTA59869,015

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PPEF-2(S) AND PPEF-2(L)), VARIANT LEU-481.
Tissue: Retina.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF023456 mRNA. Translation: AAB82796.1.
AF023457 mRNA. Translation: AAB82797.1.
AC110615 Genomic DNA. No translation available.
CCDSCCDS34013.1. [O14830-1]
RefSeqNP_006230.2. NM_006239.2. [O14830-1]
XP_006714304.1. XM_006714241.1. [O14830-2]
UniGeneHs.290873.

3D structure databases

ProteinModelPortalO14830.
SMRO14830. Positions 127-599, 619-724.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111466. 1 interaction.
IntActO14830. 1 interaction.
STRING9606.ENSP00000286719.

PTM databases

PhosphoSiteO14830.

Proteomic databases

PaxDbO14830.
PRIDEO14830.

Protocols and materials databases

DNASU5470.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000286719; ENSP00000286719; ENSG00000156194. [O14830-1]
GeneID5470.
KEGGhsa:5470.
UCSCuc003hix.3. human. [O14830-1]

Organism-specific databases

CTD5470.
GeneCardsGC04M076781.
H-InvDBHIX0200662.
HGNCHGNC:9244. PPEF2.
HPAHPA023545.
MIM602256. gene.
neXtProtNX_O14830.
PharmGKBPA33565.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0639.
HOGENOMHOG000006820.
HOVERGENHBG008238.
InParanoidO14830.
KOK13807.
OMANMLEYKS.
OrthoDBEOG7KH9J7.
PhylomeDBO14830.
TreeFamTF313342.

Gene expression databases

ArrayExpressO14830.
BgeeO14830.
CleanExHS_PPEF2.
GenevestigatorO14830.

Family and domain databases

Gene3D1.10.238.10. 2 hits.
3.60.21.10. 2 hits.
InterProIPR004843. Calcineurin-like_PHP_apaH.
IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR029052. Metallo-depent_PP-like.
IPR013235. PPP_dom.
IPR012008. Ser/Thr-Pase_EF-hand_contain.
IPR006186. Ser/Thr-sp_prot-phosphatase.
[Graphical view]
PfamPF13499. EF-hand_7. 1 hit.
PF00149. Metallophos. 1 hit.
PF08321. PPP5. 1 hit.
[Graphical view]
PIRSFPIRSF000912. PPEF. 1 hit.
PRINTSPR00114. STPHPHTASE.
SMARTSM00054. EFh. 3 hits.
SM00015. IQ. 1 hit.
SM00156. PP2Ac. 1 hit.
[Graphical view]
SUPFAMSSF56300. SSF56300. 2 hits.
PROSITEPS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 3 hits.
PS00125. SER_THR_PHOSPHATASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi5470.
NextBio21178.
PROO14830.
SOURCESearch...

Entry information

Entry namePPE2_HUMAN
AccessionPrimary (citable) accession number: O14830
Secondary accession number(s): O14831
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 5, 2009
Last modified: July 9, 2014
This is version 152 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM