• Gene id: 5475

Gene Summary

• Gene Symbol: PPEF1   Gene   UCSC   Ensembl
• Aliases: PP7, PPEF, PPP7C, PPP7CA
• Gene name: protein phosphatase with EF-hand domain 1
• Alternate names: serine/threonine-protein phosphatase with EF-hands 1, protein phosphatase 7, catalytic subunit, alpha isozyme, protein phosphatase with EF calcium-binding domain, protein phosphatase, EF-hand calcium binding domain 1, protein phosphatase, serine/threonine typ,
• Gene location: Xp22.13 (18675066: 18827920)     Exons: 1     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300109

Protein Summary

• Protein general information: O14829  
  • Name: Serine/threonine protein phosphatase with EF hands 1 (PPEF 1) (EC 3.1.3.16) (Protein phosphatase with EF calcium binding domain) (PPEF) (Serine/threonine protein phosphatase 7) (PP7)
  • Length: 653  
  • Mass: 75792
  • Tissue specificity: Detected in retina and retinal derived Y-79 retinoblastoma cells. Also found in fetal brain.
• Sequence:

  MGCSSSSTKTRRSDTSLRAALIIQNWYRGYKARLKARQHYALTIFQSIEYADEQGQMQLSTFFSFMLENYTHIHK
  EELELRNQSLESEQDMRDRWDYVDSIDVPDSYNGPRLQFPLTCTDIDLLLEAFKEQQILHAHYVLEVLFETKKVL
  KQMPNFTHIQTSPSKEVTICGDLHGKLDDLFLIFYKNGLPSERNPYVFNGDFVDRGKNSIEILMILCVSFLVYPN
  DLHLNRGNHEDFMMNLRYGFTKEILHKYKLHGKRILQILEEFYAWLPIGTIVDNEILVIHGGISETTDLNLLHRV
  ERNKMKSVLIPPTETNRDHDTDSKHNKVGVTFNAHGRIKTNGSPTEHLTEHEWEQIIDILWSDPRGKNGCFPNTC
  RGGGCYFGPDVTSKILNKYQLKMLIRSHECKPEGYEICHDGKVVTIFSASNYYEEGSNRGAYIKLCSGTTPRFFQ
  YQVTKATCFQPLRQRVDTMENSAIKILRERVISRKSDLTRAFQLQDHRKSGKLSVSQWAFCMENILGLNLPWRSL
  SSNLVNIDQNGNVEYMSSFQNIRIEKPVQEAHSTLVETLYRYRSDLEIIFNAIDTDHSGLISVEEFRAMWKLFSS
  HYNVHIDDSQVNKLANIMDLNKDGSIDFNEFLKAFYVVHRYEDLMKPDVTNLG

• Structural information:
  • Protein Domains: (16..4-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116-)
    (483..51-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (566..60-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (-)
  • Interpro: IPR004843  IPR011992  IPR018247  IPR002048  IPR000048   IPR013235  IPR012008  IPR006186  
  • Prosite: PS00018 PS50222 PS50096 PS00125
  • CDD: cd00051
  • STRING: ENSP00000354871
• Other Databases: GeneCards:  PPEF1  Malacards:  PPEF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0004722	protein serine/threonine phosphatase activity	IBA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030145	manganese ion binding	IEA	molecular function
GO:0050906	detection of stimulus involved in sensory perception	IEA	biological process
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004722	protein serine/threonine phosphatase activity	TAS	molecular function
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0022400	regulation of rhodopsin mediated signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R