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Protein

Serine/threonine-protein phosphatase with EF-hands 1

Gene

PPEF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Activity 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

Keywordsi

Molecular functionHydrolase, Protein phosphatase
LigandCalcium, Magnesium, Manganese, Metal-binding

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000086717.18
HGNCiHGNC:9243 PPEF1
MIMi300109 gene
neXtProtiNX_O14829

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi48261
48262 [O14829-2]
48263 [O14829-3]
48264 [O14829-4]
48265 [O14829-5]

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 Expressed in 117 organ(s), highest expression level in C1 segment of cervical spinal cord
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, 4 interactors
IntActiO14829, 47 interactors
STRINGi9606.ENSP00000354871

Structurei

3D structure databases

ProteinModelPortaliO14829
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

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
InterProiView protein in InterPro
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
IPR013235 PPP_dom
IPR012008 Ser/Thr-Pase_EF-hand_contain
IPR006186 Ser/Thr-sp_prot-phosphatase
PfamiView protein in Pfam
PF13499 EF-hand_7, 1 hit
PF00612 IQ, 1 hit
PF00149 Metallophos, 1 hit
PF08321 PPP5, 1 hit
PIRSFiPIRSF000912 PPEF, 1 hit
PRINTSiPR00114 STPHPHTASE
SMARTiView protein in SMART
SM00054 EFh, 3 hits
SM00015 IQ, 1 hit
SM00156 PP2Ac, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 3 hits
PS50096 IQ, 1 hit
PS00125 SER_THR_PHOSPHATASE, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

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

This entry has 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WC69F8WC69_HUMAN
Serine/threonine-protein phosphatas...
PPEF1
178Annotation score:
H7C592H7C592_HUMAN
Serine/threonine-protein phosphatas...
PPEF1
115Annotation score:
C9JY08C9JY08_HUMAN
Serine/threonine-protein phosphatas...
PPEF1
96Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051736367K → T1 PublicationCorresponds to variant dbSNP:rs1065074Ensembl.1
Natural variantiVAR_051737443G → S. Corresponds to variant dbSNP:rs11796620Ensembl.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 Genomic DNA No translation available.
Z94056 Genomic DNA No translation available.
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
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

Similar proteinsi

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 Genomic DNA No translation available.
Z94056 Genomic DNA No translation available.
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
UniGeneiHs.211589

3D structure databases

ProteinModelPortaliO14829
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111471, 4 interactors
IntActiO14829, 47 interactors
STRINGi9606.ENSP00000354871

PTM databases

DEPODiO14829
iPTMnetiO14829
PhosphoSitePlusiO14829

Polymorphism and mutation databases

BioMutaiPPEF1

Proteomic databases

PaxDbiO14829
PeptideAtlasiO14829
PRIDEiO14829
ProteomicsDBi48261
48262 [O14829-2]
48263 [O14829-3]
48264 [O14829-4]
48265 [O14829-5]

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
EuPathDBiHostDB:ENSG00000086717.18
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

ReactomeiR-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade

Miscellaneous databases

ChiTaRSiPPEF1 human
GeneWikiiPPEF1
GenomeRNAii5475
PROiPR:O14829
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000086717 Expressed in 117 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_PPEF1
ExpressionAtlasiO14829 baseline and differential
GenevisibleiO14829 HS

Family and domain databases

CDDicd00051 EFh, 1 hit
InterProiView protein in InterPro
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
IPR013235 PPP_dom
IPR012008 Ser/Thr-Pase_EF-hand_contain
IPR006186 Ser/Thr-sp_prot-phosphatase
PfamiView protein in Pfam
PF13499 EF-hand_7, 1 hit
PF00612 IQ, 1 hit
PF00149 Metallophos, 1 hit
PF08321 PPP5, 1 hit
PIRSFiPIRSF000912 PPEF, 1 hit
PRINTSiPR00114 STPHPHTASE
SMARTiView protein in SMART
SM00054 EFh, 3 hits
SM00015 IQ, 1 hit
SM00156 PP2Ac, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 3 hits
PS50096 IQ, 1 hit
PS00125 SER_THR_PHOSPHATASE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPPE1_HUMAN
AccessioniPrimary (citable) accession number: O14829
Secondary accession number(s): A6NHP4
, A8K348, O15253, Q9NU21, Q9UJH0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: January 1, 1998
Last modified: October 10, 2018
This is version 189 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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