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O14830

- PPE2_HUMAN

UniProt

O14830 - PPE2_HUMAN

Protein

Serine/threonine-protein phosphatase with EF-hands 2

Gene

PPEF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 153 (01 Oct 2014)
      Sequence version 2 (05 May 2009)
      Previous versions | rss
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    Functioni

    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 activityi

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

    Cofactori

    Binds 2 manganese ions per subunit.By similarity

    Enzyme regulationi

    Activated by calcium.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi179 – 1791Manganese 1By similarity
    Metal bindingi181 – 1811Manganese 1By similarity
    Metal bindingi208 – 2081Manganese 1By similarity
    Metal bindingi208 – 2081Manganese 2By similarity
    Metal bindingi240 – 2401Manganese 2By similarity
    Active sitei241 – 2411Proton donorBy similarity
    Metal bindingi292 – 2921Manganese 2By similarity
    Metal bindingi488 – 4881Manganese 2By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi665 – 676121PROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi705 – 716122PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. Hsp70 protein binding Source: BHF-UCL
    3. Hsp90 protein binding Source: BHF-UCL
    4. iron ion binding Source: InterPro
    5. manganese ion binding Source: InterPro
    6. mitogen-activated protein kinase kinase kinase binding Source: BHF-UCL
    7. protein binding Source: IntAct
    8. protein serine/threonine phosphatase activity Source: ProtInc

    GO - Biological processi

    1. detection of stimulus involved in sensory perception Source: InterPro
    2. negative regulation of MAPK cascade Source: BHF-UCL
    3. negative regulation of peptidyl-threonine phosphorylation Source: BHF-UCL
    4. protein dephosphorylation Source: ProtInc
    5. regulation of JUN kinase activity Source: BHF-UCL
    6. regulation of MAP kinase activity Source: BHF-UCL
    7. visual perception Source: UniProtKB-KW

    Keywords - Molecular functioni

    Hydrolase, Protein phosphatase

    Keywords - Biological processi

    Sensory transduction, Vision

    Keywords - Ligandi

    Calcium, Manganese, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Serine/threonine-protein phosphatase with EF-hands 2 (EC:3.1.3.16)
    Short name:
    PPEF-2
    Gene namesi
    Name:PPEF2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:9244. PPEF2.

    Subcellular locationi

    Cytoplasm Curated. 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.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. photoreceptor inner segment Source: UniProtKB-SubCell
    3. photoreceptor outer segment Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA33565.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 753753Serine/threonine-protein phosphatase with EF-hands 2PRO_0000058901Add
    BLAST

    Proteomic databases

    PaxDbiO14830.
    PRIDEiO14830.

    PTM databases

    PhosphoSiteiO14830.

    Expressioni

    Tissue specificityi

    Retinal specific.

    Gene expression databases

    ArrayExpressiO14830.
    BgeeiO14830.
    CleanExiHS_PPEF2.
    GenevestigatoriO14830.

    Organism-specific databases

    HPAiHPA023545.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Calm3P622042EBI-2931306,EBI-397460From a different organism.

    Protein-protein interaction databases

    BioGridi111466. 1 interaction.
    IntActiO14830. 1 interaction.
    STRINGi9606.ENSP00000286719.

    Structurei

    3D structure databases

    ProteinModelPortaliO14830.
    SMRiO14830. Positions 127-599, 619-724.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini21 – 4626IQAdd
    BLAST
    Domaini568 – 60336EF-hand 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini652 – 68736EF-hand 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini692 – 72736EF-hand 3PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni128 – 540413CatalyticAdd
    BLAST

    Sequence similaritiesi

    Belongs to the PPP phosphatase family.Curated
    Contains 3 EF-hand domains.PROSITE-ProRule annotation
    Contains 1 IQ domain.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG0639.
    HOGENOMiHOG000006820.
    HOVERGENiHBG008238.
    InParanoidiO14830.
    KOiK13807.
    OMAiNMLEYKS.
    OrthoDBiEOG7KH9J7.
    PhylomeDBiO14830.
    TreeFamiTF313342.

    Family and domain databases

    Gene3Di1.10.238.10. 2 hits.
    3.60.21.10. 2 hits.
    InterProiIPR004843. 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]
    PfamiPF13499. EF-hand_7. 1 hit.
    PF00149. Metallophos. 1 hit.
    PF08321. PPP5. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000912. PPEF. 1 hit.
    PRINTSiPR00114. STPHPHTASE.
    SMARTiSM00054. EFh. 3 hits.
    SM00015. IQ. 1 hit.
    SM00156. PP2Ac. 1 hit.
    [Graphical view]
    SUPFAMiSSF56300. SSF56300. 2 hits.
    PROSITEiPS00018. EF_HAND_1. 2 hits.
    PS50222. EF_HAND_2. 3 hits.
    PS00125. SER_THR_PHOSPHATASE. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform PPEF-2(L) (identifier: O14830-1) [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

    MGSGTSTQHH FAFQNAERAF KAAALIQRWY RRYVARLEMR RRCTWSIFQS    50
    IEYAGQQDQV KLHDFFSYLM DHFIPSSHND RDFLTRIFTE DRFAQDSEMK 100
    KCSDYESIEV PDSYTGPRLS FPLLPDHATA LVEAFRLKQQ LHARYVLNLL 150
    YETKKHLVQL PNINRVSTCY SEEITVCGDL HGQLDDLIFI FYKNGLPSPE 200
    RSYVFNGDFV DRGKDSVEIL MILFAFMLVY PKEFHLNRGN HEDHMVNLRY 250
    GFTKEVMNKY KVHGKEILRT LQDVFCWLPL ATLIDEKVLI LHGGVSDITD 300
    LELLDKIERS KIVSTMRCKT RQKSEKQMEE KRRANQKSSA QGPIPWFLPE 350
    SRSLPSSPLR LGSYKAQKTS RSSSIPCSGS LDGRELSRQV RSSVELELER 400
    CRQQAGLLVT GEKEEPSRSA SEADSEAGEL RKPTQEEWRQ VVDILWSDPM 450
    AQEGCKANTI RGGGCYFGPD VTQQLLQKYN MQFLIRSHEC KPEGYEFCHN 500
    RKVLTIFSAS NYYEVGSNRG AYVKLGPALT PHIVQYQANK VTHTLTMRQR 550
    ISRVEESALR ALREKLFAHS SDLLSEFKKH DADKVGLITL SDWAAAVESV 600
    LHLGLPWRML RPQLVNSSAD NMLEYKSWLK NLAKEQLSRE NIQSSLLETL 650
    YRNRSNLETI FRIIDSDHSG FISLDEFRQT WKLFSSHMNI DITDDCICDL 700
    ARSIDFNKDG HIDINEFLEA FRLVEKSCPE GDASECPQAT NAKDSGCSSP 750
    GAH 753
    Length:753
    Mass (Da):86,518
    Last modified:May 5, 2009 - v2
    Checksum:i28ED6E79C5B8906C
    GO
    Isoform PPEF-2(S) (identifier: O14830-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:598
    Mass (Da):69,015
    Checksum:i6A27214098070B2D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti118 – 1181R → S in AAB82796. (PubMed:9326663)Curated
    Sequence conflicti118 – 1181R → S in AAB82797. (PubMed:9326663)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti120 – 1201S → R.
    VAR_010230
    Natural varianti394 – 3941V → L.
    Corresponds to variant rs34097437 [ dbSNP | Ensembl ].
    VAR_055121
    Natural varianti412 – 4121E → K.
    Corresponds to variant rs35599561 [ dbSNP | Ensembl ].
    VAR_055122
    Natural varianti481 – 4811M → L.1 Publication
    Corresponds to variant rs6858658 [ dbSNP | Ensembl ].
    VAR_061759
    Natural varianti553 – 5531R → K.
    Corresponds to variant rs34155925 [ dbSNP | Ensembl ].
    VAR_055123
    Natural varianti575 – 5751S → C.
    Corresponds to variant rs17000961 [ dbSNP | Ensembl ].
    VAR_055124

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei588 – 59811ITLSDWAAAVE → ASSQLCYYQQK in isoform PPEF-2(S). CuratedVSP_005103Add
    BLAST
    Alternative sequencei599 – 753155Missing in isoform PPEF-2(S). CuratedVSP_005104Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF023456 mRNA. Translation: AAB82796.1.
    AF023457 mRNA. Translation: AAB82797.1.
    AC110615 Genomic DNA. No translation available.
    CCDSiCCDS34013.1. [O14830-1]
    RefSeqiNP_006230.2. NM_006239.2. [O14830-1]
    XP_006714304.1. XM_006714241.1. [O14830-2]
    UniGeneiHs.290873.

    Genome annotation databases

    EnsembliENST00000286719; ENSP00000286719; ENSG00000156194. [O14830-1]
    GeneIDi5470.
    KEGGihsa:5470.
    UCSCiuc003hix.3. human. [O14830-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF023456 mRNA. Translation: AAB82796.1 .
    AF023457 mRNA. Translation: AAB82797.1 .
    AC110615 Genomic DNA. No translation available.
    CCDSi CCDS34013.1. [O14830-1 ]
    RefSeqi NP_006230.2. NM_006239.2. [O14830-1 ]
    XP_006714304.1. XM_006714241.1. [O14830-2 ]
    UniGenei Hs.290873.

    3D structure databases

    ProteinModelPortali O14830.
    SMRi O14830. Positions 127-599, 619-724.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111466. 1 interaction.
    IntActi O14830. 1 interaction.
    STRINGi 9606.ENSP00000286719.

    PTM databases

    PhosphoSitei O14830.

    Proteomic databases

    PaxDbi O14830.
    PRIDEi O14830.

    Protocols and materials databases

    DNASUi 5470.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000286719 ; ENSP00000286719 ; ENSG00000156194 . [O14830-1 ]
    GeneIDi 5470.
    KEGGi hsa:5470.
    UCSCi uc003hix.3. human. [O14830-1 ]

    Organism-specific databases

    CTDi 5470.
    GeneCardsi GC04M076781.
    H-InvDB HIX0200662.
    HGNCi HGNC:9244. PPEF2.
    HPAi HPA023545.
    MIMi 602256. gene.
    neXtProti NX_O14830.
    PharmGKBi PA33565.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0639.
    HOGENOMi HOG000006820.
    HOVERGENi HBG008238.
    InParanoidi O14830.
    KOi K13807.
    OMAi NMLEYKS.
    OrthoDBi EOG7KH9J7.
    PhylomeDBi O14830.
    TreeFami TF313342.

    Miscellaneous databases

    GenomeRNAii 5470.
    NextBioi 21178.
    PROi O14830.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O14830.
    Bgeei O14830.
    CleanExi HS_PPEF2.
    Genevestigatori O14830.

    Family and domain databases

    Gene3Di 1.10.238.10. 2 hits.
    3.60.21.10. 2 hits.
    InterProi IPR004843. 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 ]
    Pfami PF13499. EF-hand_7. 1 hit.
    PF00149. Metallophos. 1 hit.
    PF08321. PPP5. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000912. PPEF. 1 hit.
    PRINTSi PR00114. STPHPHTASE.
    SMARTi SM00054. EFh. 3 hits.
    SM00015. IQ. 1 hit.
    SM00156. PP2Ac. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56300. SSF56300. 2 hits.
    PROSITEi PS00018. EF_HAND_1. 2 hits.
    PS50222. EF_HAND_2. 3 hits.
    PS00125. SER_THR_PHOSPHATASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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].

    Entry informationi

    Entry nameiPPE2_HUMAN
    AccessioniPrimary (citable) accession number: O14830
    Secondary accession number(s): O14831
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 153 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, 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

    External Data

    Dasty 3