• Gene id: 10775

Gene Summary

• Gene Symbol: POP4   Gene   UCSC   Ensembl
• Aliases: RPP29
• Gene name: POP4 homolog, ribonuclease P/MRP subunit
• Alternate names: ribonuclease P protein subunit p29, hPOP4,
• Gene location: 19q12 (29606282: 29617236)     Exons: 7     NC_000019.10
• Gene summary(Entrez): This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates
• OMIM: 606114

Protein Summary

• Protein general information: O95707  
  • Name: Ribonuclease P protein subunit p29 (hPOP4) (EC 3.1.26.5)
  • Length: 220  
  • Mass: 25425
• Sequence:

  MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEYFTRHKRKEKKKKAKG
  LSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPDTQPQMIQAKLLKADLHGAIISVTKSKCPSY
  VGITGILLQETKHIFKIITKEDRLKVIPKLNCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL

• Structural information:
  • Interpro: IPR002730  IPR016848  IPR036980  IPR023534  
  • PDB: 6AHR 6AHU
  • PDBsum: 6AHR 6AHU
  • STRING: ENSP00000465213
• Other Databases: GeneCards:  POP4  Malacards:  POP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033204	ribonuclease P RNA binding	IBA	molecular function
GO:0030677	ribonuclease P complex	IBA	cellular component
GO:0000171	ribonuclease MRP activity	IBA	contributes to
GO:0006364	rRNA processing	IBA	biological process
GO:0004526	ribonuclease P activity	IBA	contributes to
GO:0000172	ribonuclease MRP complex	IBA	cellular component
GO:0033204	ribonuclease P RNA binding	IDA	molecular function
GO:0030681	multimeric ribonuclease P complex	IDA	cellular component
GO:0001682	tRNA 5'-leader removal	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0004526	ribonuclease P activity	IDA	contributes to
GO:0006396	RNA processing	IEA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0030677	ribonuclease P complex	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0004540	ribonuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0000172	ribonuclease MRP complex	TAS	cellular component
GO:0004526	ribonuclease P activity	IEA	molecular function
GO:0004526	ribonuclease P activity	IDA	contributes to
GO:0001682	tRNA 5'-leader removal	IDA	biological process
GO:0030681	multimeric ribonuclease P complex	IDA	cellular component
GO:0001682	tRNA 5'-leader removal	TAS	biological process
GO:0005654	nucleoplasm	TAS	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: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:0005730	nucleolus	IEA	cellular component
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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