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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 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 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 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. cilium Source: UniProtKB-KW
  2. cytoplasm Source: UniProtKB-KW
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 2PRO_0000058901Add
BLAST

Proteomic databases

PaxDbiO14830.
PRIDEiO14830.

PTM databases

PhosphoSiteiO14830.

Expressioni

Tissue specificityi

Retinal specific.

Gene expression databases

BgeeiO14830.
CleanExiHS_PPEF2.
ExpressionAtlasiO14830. baseline.
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 131-311, 443-538, 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.
GeneTreeiENSGT00530000063173.
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

        10         20         30         40         50
MGSGTSTQHH FAFQNAERAF KAAALIQRWY RRYVARLEMR RRCTWSIFQS
60 70 80 90 100
IEYAGQQDQV KLHDFFSYLM DHFIPSSHND RDFLTRIFTE DRFAQDSEMK
110 120 130 140 150
KCSDYESIEV PDSYTGPRLS FPLLPDHATA LVEAFRLKQQ LHARYVLNLL
160 170 180 190 200
YETKKHLVQL PNINRVSTCY SEEITVCGDL HGQLDDLIFI FYKNGLPSPE
210 220 230 240 250
RSYVFNGDFV DRGKDSVEIL MILFAFMLVY PKEFHLNRGN HEDHMVNLRY
260 270 280 290 300
GFTKEVMNKY KVHGKEILRT LQDVFCWLPL ATLIDEKVLI LHGGVSDITD
310 320 330 340 350
LELLDKIERS KIVSTMRCKT RQKSEKQMEE KRRANQKSSA QGPIPWFLPE
360 370 380 390 400
SRSLPSSPLR LGSYKAQKTS RSSSIPCSGS LDGRELSRQV RSSVELELER
410 420 430 440 450
CRQQAGLLVT GEKEEPSRSA SEADSEAGEL RKPTQEEWRQ VVDILWSDPM
460 470 480 490 500
AQEGCKANTI RGGGCYFGPD VTQQLLQKYN MQFLIRSHEC KPEGYEFCHN
510 520 530 540 550
RKVLTIFSAS NYYEVGSNRG AYVKLGPALT PHIVQYQANK VTHTLTMRQR
560 570 580 590 600
ISRVEESALR ALREKLFAHS SDLLSEFKKH DADKVGLITL SDWAAAVESV
610 620 630 640 650
LHLGLPWRML RPQLVNSSAD NMLEYKSWLK NLAKEQLSRE NIQSSLLETL
660 670 680 690 700
YRNRSNLETI FRIIDSDHSG FISLDEFRQT WKLFSSHMNI DITDDCICDL
710 720 730 740 750
ARSIDFNKDG HIDINEFLEA FRLVEKSCPE GDASECPQAT NAKDSGCSSP

GAH
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]
ENST00000621010; ENSP00000483398; ENSG00000156194. [O14830-2]
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 131-311, 443-538, 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 ]
ENST00000621010 ; ENSP00000483398 ; ENSG00000156194 . [O14830-2 ]
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.
GeneTreei ENSGT00530000063173.
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

Bgeei O14830.
CleanExi HS_PPEF2.
ExpressionAtlasi O14830. baseline.
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: October 29, 2014
This is version 154 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