• Gene id: 5511

Gene Summary

• Gene Symbol: PPP1R8   Gene   UCSC   Ensembl
• Aliases: ARD-1, ARD1, NIPP-1, NIPP1, PRO2047
• Gene name: protein phosphatase 1 regulatory subunit 8
• Alternate names: nuclear inhibitor of protein phosphatase 1, RNase E, activator of RNA decay, nuclear inhibitor of protein phosphatase-1 alpha, nuclear inhibitor of protein phosphatase-1 beta, nuclear subunit of PP-1, protein phosphatase 1, regulatory (inhibitor) subunit 8,
• Gene location: 1p35.3 (84194536: 84219620)     Exons: 19     NC_000010.11
• Gene summary(Entrez): This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform
• OMIM: 602636

Protein Summary

• Protein general information: Q12972  
  • Name: Nuclear inhibitor of protein phosphatase 1 (NIPP 1) (Protein phosphatase 1 regulatory inhibitor subunit 8) [Includes: Activator of RNA decay (EC 3.1.4. ) (ARD 1)]
  • Length: 351  
  • Mass: 38479
  • Tissue specificity: Ubiquitously expressed, with highest levels in heart and skeletal muscle, followed by brain, placenta, lung, liver and pancreas. Less abundant in kidney. The concentration and ratio between isoforms is cell-type dependent. Isoform Alph
• Sequence:

  MAAAANSGSSLPLFDCPTWAGKPPPGLHLDVVKGDKLIEKLIIDEKKYYLFGRNPDLCDFTIDHQSCSRVHAALV
  YHKHLKRVFLIDLNSTHGTFLGHIRLEPHKPQQIPIDSTVSFGASTRAYTLREKPQTLPSAVKGDEKMGGEDDEL
  KGLLGLPEEETELDNLTEFNTAHNKRISTLTIEEGNLDIQRPKRKRKNSRVTFSEDDEIINPEDVDPSVGRFRNM
  VQTAVVPVKKKRVEGPGSLGLEESGSRRMQNFAFSGGLYGGLPPTHSEAGSQPHGIHGTALIGGLPMPYPNLAPD
  VDLTPVVPSAVNMNPAPNPAVYNPEAVNEPKKKKYAKEAWPGKKPTPSLLI

• Structural information:
  • Protein Domains: (49..10-)
    (/note="FHA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00086"-)
  • Interpro: IPR000253  IPR008984  
  • Prosite: PS50006
  • CDD: cd00060
  • PDB: 3V4Y
  • PDBsum: 3V4Y
  • DIP: 40815
  • STRING: ENSP00000311677
• Other Databases: GeneCards:  PPP1R8  Malacards:  PPP1R8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035308	negative regulation of protein dephosphorylation	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0016607	nuclear speck	IBA	cellular component
GO:0004865	protein serine/threonine phosphatase inhibitor activity	IBA	molecular function
GO:0016607	nuclear speck	IDA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0004864	protein phosphatase inhibitor activity	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0004518	nuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0004865	protein serine/threonine phosphatase inhibitor activity	TAS	molecular function
GO:0008995	ribonuclease E activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006401	RNA catabolic process	TAS	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: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:0005515	protein binding	IPI	molecular function
GO:0008283	cell population proliferation	IEA	biological process
GO:0019888	protein phosphatase regulator activity	IEA	molecular function
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0043666	regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881