PPEF1

Protein identityUniProt · HPA

UniProt accession

O14829

Gene

PPEF1

Ensembl

ENSG00000086717

Chromosome

X

Canonical length

653 aa

Protein class

Enzymes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Plasma membrane,Cytokinetic bridge

OverviewNCBI Gene

This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

653 residues, UniProt reviewed canonical sequence.

>O14829|PPEF1
     1  MGCSSSSTKT RRSDTSLRAA LIIQNWYRGY KARLKARQHY ALTIFQSIEY ADEQGQMQLS
    61  TFFSFMLENY THIHKEELEL RNQSLESEQD MRDRWDYVDS IDVPDSYNGP RLQFPLTCTD
   121  IDLLLEAFKE QQILHAHYVL EVLFETKKVL KQMPNFTHIQ TSPSKEVTIC GDLHGKLDDL
   181  FLIFYKNGLP SERNPYVFNG DFVDRGKNSI EILMILCVSF LVYPNDLHLN RGNHEDFMMN
   241  LRYGFTKEIL HKYKLHGKRI LQILEEFYAW LPIGTIVDNE ILVIHGGISE TTDLNLLHRV
   301  ERNKMKSVLI PPTETNRDHD TDSKHNKVGV TFNAHGRIKT NGSPTEHLTE HEWEQIIDIL
   361  WSDPRGKNGC FPNTCRGGGC YFGPDVTSKI LNKYQLKMLI RSHECKPEGY EICHDGKVVT
   421  IFSASNYYEE GSNRGAYIKL CSGTTPRFFQ YQVTKATCFQ PLRQRVDTME NSAIKILRER
   481  VISRKSDLTR AFQLQDHRKS GKLSVSQWAF CMENILGLNL PWRSLSSNLV NIDQNGNVEY
   541  MSSFQNIRIE KPVQEAHSTL VETLYRYRSD LEIIFNAIDT DHSGLISVEE FRAMWKLFSS
   601  HYNVHIDDSQ VNKLANIMDL NKDGSIDFNE FLKAFYVVHR YEDLMKPDVT NLG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PPEF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

13 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.29

gnomAD pLI

0.99

gnomAD missense Z

1.94

DepMap mean gene effect

0.15

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• detection of stimulus involved in sensory perception
• protein dephosphorylation

Molecular functions

• calcium ion binding
• iron ion binding
• manganese ion binding
• protein serine/threonine phosphatase activity

Cellular components

• cytosol
• nucleus

Protein domainsUniProt · Pfam · InterPro

• IQ motif, EF-hand binding site
• EF-hand domain
• Calcineurin-like, phosphoesterase domain
• Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase
• EF-hand domain pair
• Serine/threonine-protein phosphatase with EF-hands
• PPP domain
• EF-Hand 1, calcium-binding site
• Metallo-dependent phosphatase-like
• Protein Phosphatase PPP
• Calcineurin-like phosphoesterase
• IQ calmodulin-binding motif
• PPP5 TPR repeat region
• EF-hand domain pair

KeywordsUniProt

• Calcium
• Hydrolase
• Magnesium
• Manganese
• Metal-binding
• Protein phosphatase
• Repeat