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O14830

- PPE2_HUMAN

UniProt

O14830 - PPE2_HUMAN

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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

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 1 By similarity
Metal bindingi181 – 1811Manganese 1 By similarity
Metal bindingi208 – 2081Manganese 1 By similarity
Metal bindingi208 – 2081Manganese 2 By similarity
Metal bindingi240 – 2401Manganese 2 By similarity
Active sitei241 – 2411Proton donor By similarity
Metal bindingi292 – 2921Manganese 2 By similarity
Metal bindingi488 – 4881Manganese 2 By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi665 – 676121 Reviewed prediction
Add
BLAST
Calcium bindingi705 – 716122 Reviewed prediction
Add
BLAST

GO - Molecular functioni

  1. Hsp70 protein binding Source: BHF-UCL
  2. Hsp90 protein binding Source: BHF-UCL
  3. calcium ion binding Source: InterPro
  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
Complete GO annotation...

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 Inferred. 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
Complete GO annotation...

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 2
PRO_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.

Family & Domainsi

Domains and Repeats

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

Region

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

Sequence similaritiesi

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

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

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).
VSP_005103Add
BLAST
Alternative sequencei599 – 753155Missing in isoform PPEF-2(S).
VSP_005104Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti118 – 1181R → S in AAB82796. 1 Publication
Sequence conflicti118 – 1181R → S in AAB82797. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 152 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

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