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Protein

Serine/threonine-protein phosphatase with EF-hands 1

Gene

PPEF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May have a role in the recovery or adaptation response of photoreceptors. May have a role in development.

Catalytic activityi

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

Cofactori

Protein has several cofactor binding sites:
  • Mn2+By similarityNote: Binds 2 manganese ions per subunit.By similarity
  • Mg2+By similarity

Enzyme regulationi

Activated by calcium.

pH dependencei

Optimum pH is 8.0.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi172Manganese 1By similarity1
Metal bindingi174Manganese 1By similarity1
Metal bindingi201Manganese 1By similarity1
Metal bindingi201Manganese 2By similarity1
Metal bindingi233Manganese 2By similarity1
Active sitei234Proton donorBy similarity1
Metal bindingi285Manganese 2By similarity1
Metal bindingi403Manganese 2By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi579 – 5901PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi619 – 6302PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protein phosphatase

Keywords - Ligandi

Calcium, Magnesium, Manganese, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:HS01541-MONOMER.
ReactomeiR-HSA-2514859. Inactivation, recovery and regulation of the phototransduction cascade.

Names & Taxonomyi

Protein namesi
Recommended name:
Serine/threonine-protein phosphatase with EF-hands 1 (EC:3.1.3.16)
Short name:
PPEF-1
Alternative name(s):
Protein phosphatase with EF calcium-binding domain
Short name:
PPEF
Serine/threonine-protein phosphatase 7
Short name:
PP7
Gene namesi
Name:PPEF1
Synonyms:PPEF, PPP7C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:9243. PPEF1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi5475.
OpenTargetsiENSG00000086717.
PharmGKBiPA33564.

Polymorphism and mutation databases

BioMutaiPPEF1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000588991 – 653Serine/threonine-protein phosphatase with EF-hands 1Add BLAST653

Proteomic databases

PaxDbiO14829.
PeptideAtlasiO14829.
PRIDEiO14829.

PTM databases

DEPODiO14829.
iPTMnetiO14829.
PhosphoSitePlusiO14829.

Expressioni

Tissue specificityi

Detected in retina and retinal derived Y-79 retinoblastoma cells. Also found in fetal brain.

Gene expression databases

BgeeiENSG00000086717.
CleanExiHS_PPEF1.
ExpressionAtlasiO14829. baseline and differential.
GenevisibleiO14829. HS.

Organism-specific databases

HPAiHPA034577.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
Calm3P622042EBI-2931238,EBI-397460From a different organism.

Protein-protein interaction databases

BioGridi111471. 3 interactors.
IntActiO14829. 2 interactors.
STRINGi9606.ENSP00000354871.

Structurei

3D structure databases

ProteinModelPortaliO14829.
SMRiO14829.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini16 – 45IQPROSITE-ProRule annotationAdd BLAST30
Domaini483 – 518EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini566 – 601EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini606 – 641EF-hand 3PROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni121 – 455CatalyticAdd BLAST335

Sequence similaritiesi

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0377. Eukaryota.
COG0639. LUCA.
GeneTreeiENSGT00530000063173.
HOGENOMiHOG000006820.
HOVERGENiHBG008238.
InParanoidiO14829.
KOiK13807.
OMAiMMNLRYG.
OrthoDBiEOG091G02M5.
PhylomeDBiO14829.
TreeFamiTF313342.

Family and domain databases

CDDicd00051. EFh. 1 hit.
Gene3Di1.10.238.10. 1 hit.
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.
PF00612. IQ. 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]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF56300. SSF56300. 2 hits.
PROSITEiPS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 3 hits.
PS50096. IQ. 1 hit.
PS00125. SER_THR_PHOSPHATASE. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O14829-1) [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
MGCSSSSTKT RRSDTSLRAA LIIQNWYRGY KARLKARQHY ALTIFQSIEY
60 70 80 90 100
ADEQGQMQLS TFFSFMLENY THIHKEELEL RNQSLESEQD MRDRWDYVDS
110 120 130 140 150
IDVPDSYNGP RLQFPLTCTD IDLLLEAFKE QQILHAHYVL EVLFETKKVL
160 170 180 190 200
KQMPNFTHIQ TSPSKEVTIC GDLHGKLDDL FLIFYKNGLP SERNPYVFNG
210 220 230 240 250
DFVDRGKNSI EILMILCVSF LVYPNDLHLN RGNHEDFMMN LRYGFTKEIL
260 270 280 290 300
HKYKLHGKRI LQILEEFYAW LPIGTIVDNE ILVIHGGISE TTDLNLLHRV
310 320 330 340 350
ERNKMKSVLI PPTETNRDHD TDSKHNKVGV TFNAHGRIKT NGSPTEHLTE
360 370 380 390 400
HEWEQIIDIL WSDPRGKNGC FPNTCRGGGC YFGPDVTSKI LNKYQLKMLI
410 420 430 440 450
RSHECKPEGY EICHDGKVVT IFSASNYYEE GSNRGAYIKL CSGTTPRFFQ
460 470 480 490 500
YQVTKATCFQ PLRQRVDTME NSAIKILRER VISRKSDLTR AFQLQDHRKS
510 520 530 540 550
GKLSVSQWAF CMENILGLNL PWRSLSSNLV NIDQNGNVEY MSSFQNIRIE
560 570 580 590 600
KPVQEAHSTL VETLYRYRSD LEIIFNAIDT DHSGLISVEE FRAMWKLFSS
610 620 630 640 650
HYNVHIDDSQ VNKLANIMDL NKDGSIDFNE FLKAFYVVHR YEDLMKPDVT

NLG
Length:653
Mass (Da):75,792
Last modified:January 1, 1998 - v1
Checksum:iDF7B78C444EE6484
GO
Isoform 1A (identifier: O14829-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     79-132: Missing.

Show »
Length:599
Mass (Da):69,376
Checksum:iCA3972CC029AE822
GO
Isoform 1B (identifier: O14829-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     328-355: Missing.

Show »
Length:625
Mass (Da):72,635
Checksum:iDF86ABE8D0433ECE
GO
Isoform 2 (identifier: O14829-4) [UniParc]FASTAAdd to basket

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.
Show »
Length:376
Mass (Da):44,019
Checksum:i0C0E1B327FC8C000
GO
Isoform 3 (identifier: O14829-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     356-417: Missing.

Note: May have no functional significance.
Show »
Length:591
Mass (Da):68,806
Checksum:i920657F8E80D2C8B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051736367K → T.1 PublicationCorresponds to variant rs1065074dbSNPEnsembl.1
Natural variantiVAR_051737443G → S.Corresponds to variant rs11796620dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00509879 – 132Missing in isoform 1A. CuratedAdd BLAST54
Alternative sequenceiVSP_005099328 – 355Missing in isoform 1B. CuratedAdd BLAST28
Alternative sequenceiVSP_005102356 – 417Missing in isoform 3. CuratedAdd BLAST62
Alternative sequenceiVSP_005100356 – 376IIDIL…PNTCR → SGYYGKQRHQDIKRESDFTK K in isoform 2. CuratedAdd BLAST21
Alternative sequenceiVSP_005101377 – 653Missing in isoform 2. CuratedAdd BLAST277

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14188.1. [O14829-1]
CCDS43920.1. [O14829-5]
RefSeqiNP_006231.2. NM_006240.2. [O14829-1]
NP_689410.1. NM_152224.1. [O14829-3]
NP_689412.1. NM_152226.1. [O14829-5]
XP_005274610.1. XM_005274553.2. [O14829-1]
UniGeneiHs.211589.

Genome annotation databases

EnsembliENST00000349874; ENSP00000341892; ENSG00000086717. [O14829-5]
ENST00000361511; ENSP00000354871; ENSG00000086717. [O14829-1]
GeneIDi5475.
KEGGihsa:5475.
UCSCiuc004cyq.4. human. [O14829-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14188.1. [O14829-1]
CCDS43920.1. [O14829-5]
RefSeqiNP_006231.2. NM_006240.2. [O14829-1]
NP_689410.1. NM_152224.1. [O14829-3]
NP_689412.1. NM_152226.1. [O14829-5]
XP_005274610.1. XM_005274553.2. [O14829-1]
UniGeneiHs.211589.

3D structure databases

ProteinModelPortaliO14829.
SMRiO14829.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111471. 3 interactors.
IntActiO14829. 2 interactors.
STRINGi9606.ENSP00000354871.

PTM databases

DEPODiO14829.
iPTMnetiO14829.
PhosphoSitePlusiO14829.

Polymorphism and mutation databases

BioMutaiPPEF1.

Proteomic databases

PaxDbiO14829.
PeptideAtlasiO14829.
PRIDEiO14829.

Protocols and materials databases

DNASUi5475.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000349874; ENSP00000341892; ENSG00000086717. [O14829-5]
ENST00000361511; ENSP00000354871; ENSG00000086717. [O14829-1]
GeneIDi5475.
KEGGihsa:5475.
UCSCiuc004cyq.4. human. [O14829-1]

Organism-specific databases

CTDi5475.
DisGeNETi5475.
GeneCardsiPPEF1.
HGNCiHGNC:9243. PPEF1.
HPAiHPA034577.
MIMi300109. gene.
neXtProtiNX_O14829.
OpenTargetsiENSG00000086717.
PharmGKBiPA33564.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0377. Eukaryota.
COG0639. LUCA.
GeneTreeiENSGT00530000063173.
HOGENOMiHOG000006820.
HOVERGENiHBG008238.
InParanoidiO14829.
KOiK13807.
OMAiMMNLRYG.
OrthoDBiEOG091G02M5.
PhylomeDBiO14829.
TreeFamiTF313342.

Enzyme and pathway databases

BioCyciZFISH:HS01541-MONOMER.
ReactomeiR-HSA-2514859. Inactivation, recovery and regulation of the phototransduction cascade.

Miscellaneous databases

ChiTaRSiPPEF1. human.
GeneWikiiPPEF1.
GenomeRNAii5475.
PROiO14829.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000086717.
CleanExiHS_PPEF1.
ExpressionAtlasiO14829. baseline and differential.
GenevisibleiO14829. HS.

Family and domain databases

CDDicd00051. EFh. 1 hit.
Gene3Di1.10.238.10. 1 hit.
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.
PF00612. IQ. 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]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF56300. SSF56300. 2 hits.
PROSITEiPS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 3 hits.
PS50096. IQ. 1 hit.
PS00125. SER_THR_PHOSPHATASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPPE1_HUMAN
AccessioniPrimary (citable) accession number: O14829
Secondary accession number(s): A6NHP4
, A8K348, O15253, Q9NU21, Q9UJH0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: January 1, 1998
Last modified: November 30, 2016
This is version 174 of the entry and version 1 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 X
    Human chromosome X: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.