• Gene id: 9989

Gene Summary

• Gene Symbol: PPP4R1   Gene   UCSC   Ensembl
• Aliases: MEG1, PP4(Rmeg), PP4R1
• Gene name: protein phosphatase 4 regulatory subunit 1
• Alternate names: serine/threonine-protein phosphatase 4 regulatory subunit 1, serine/threonine phosphatase 4,
• Gene location: 18p11.22 (9615272: 9546793)     Exons: 22     NC_000018.10
• Gene summary(Entrez): This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 compl
• OMIM: 604908

Protein Summary

• Protein general information: Q8TF05  
  • Name: Serine/threonine protein phosphatase 4 regulatory subunit 1
  • Length: 950  
  • Mass: 107004
  • Tissue specificity: Widely expressed with high expression in cultured mesangial cells. Isoform 1 and isoform 2 are expressed in renal tissues. {ECO
• Sequence:

  MADLSLLQEDLQEDADGFGVDDYSSESDVIIIPSALDFVSQDEMLTPLGRLDKYAASENIFNRQMVARSLLDTLR
  EVCDDERDCIAVLERISRLADDSEPTVRAELMEQVPHIALFCQENRPSIPYAFSKFLLPIVVRYLADQNNQVRKT
  SQAALLALLEQELIERFDVETKVCPVLIELTAPDSNDDVKTEAVAIMCKMAPMVGKDITERLILPRFCEMCCDCR
  MFHVRKVCAANFGDICSVVGQQATEEMLLPRFFQLCSDNVWGVRKACAECFMAVSCATCQEIRRTKLSALFINLI
  SDPSRWVRQAAFQSLGPFISTFANPSSSGQYFKEESKSSEEMSVENKNRTRDQEAPEDVQVRPEDTPSDLSVSNS
  SVILENTMEDHAAEASGKPLGEISVPLDSSLLCTLSSESHQEAASNENDKKPGNYKSMLRPEVGTTSQDSALLDQ
  ELYNSFHFWRTPLPEIDLDIELEQNSGGKPSPEGPEEESEGPVPSSPNITMATRKELEEMIENLEPHIDDPDVKA
  QVEVLSAALRASSLDAHEETISIEKRSDLQDELDINELPNCKINQEDSVPLISDAVENMDSTLHYIHSDSDLSNN
  SSFSPDEERRTKVQDVVPQALLDQYLSMTDPSRAQTVDTEIAKHCAYSLPGVALTLGRQNWHCLRETYETLASDM
  QWKVRRTLAFSIHELAVILGDQLTAADLVPIFNGFLKDLDEVRIGVLKHLHDFLKLLHIDKRREYLYQLQEFLVT
  DNSRNWRFRAELAEQLILLLELYSPRDVYDYLRPIALNLCADKVSSVRWISYKLVSEMVKKLHAATPPTFGVDLI
  NELVENFGRCPKWSGRQAFVFVCQTVIEDDCLPMDQFAVHLMPHLLTLANDRVPNVRVLLAKTLRQTLLEKDYFL
  ASASCHQEAVEQTIMALQMDRDSDVKYFASIHPASTKISEDAMSTASSTY

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR000357  IPR021133  IPR031087   IPR033461  
  • Prosite: PS50077
  • STRING: ENSP00000383402
• Other Databases: GeneCards:  PPP4R1  Malacards:  PPP4R1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019888	protein phosphatase regulator activity	IBA	molecular function
GO:0004722	protein serine/threonine phosphatase activity	IBA	contributes to
GO:0008287	protein serine/threonine phosphatase complex	IBA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0030289	protein phosphatase 4 complex	IEA	cellular component
GO:0019888	protein phosphatase regulator activity	IEA	molecular function
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043666	regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0043666	regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0043666	regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0019888	protein phosphatase regulator activity	NAS	molecular function
GO:0006468	protein phosphorylation	ISS	biological process
GO:0030289	protein phosphatase 4 complex	ISS	cellular component
GO:0007165	signal transduction	NAS	biological process
GO:0004721	phosphoprotein phosphatase activity	ISS	contributes to

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R