• Gene id: 10940

Gene Summary

• Gene Symbol: POP1   Gene   UCSC   Ensembl
• Aliases: ANXD2
• Gene name: POP1 homolog, ribonuclease P/MRP subunit
• Alternate names: ribonucleases P/MRP protein subunit POP1, hPOP1, processing of precursor 1, ribonuclease P/MRP subunit, processing of precursors 1,
• Gene location: 8q22.2 (32336232: 32333838)     Exons: 2     NC_000001.11
• Gene summary(Entrez): This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the n
• OMIM: 602486

Protein Summary

• Protein general information: Q99575  
  • Name: Ribonucleases P/MRP protein subunit POP1 (hPOP1) (EC 3.1.26.5)
  • Length: 1024  
  • Mass: 114709
• Sequence:

  MSNAKERKHAKKMRNQPTNVTLSSGFVADRGVKHHSGGEKPFQAQKQEPHPGTSRQRQTRVNPHSLPDPEVNEQS
  SSKGMFRKKGGWKAGPEGTSQEIPKYITASTFAQARAAEISAMLKAVTQKSSNSLVFQTLPRHMRRRAMSHNVKR
  LPRRLQEIAQKEAEKAVHQKKEHSKNKCHKARRCHMNRTLEFNRRQKKNIWLETHIWHAKRFHMVKKWGYCLGER
  PTVKSHRACYRAMTNRCLLQDLSYYCCLELKGKEEEILKALSGMCNIDTGLTFAAVHCLSGKRQGSLVLYRVNKY
  PREMLGPVTFIWKSQRTPGDPSESRQLWIWLHPTLKQDILEEIKAACQCVEPIKSAVCIADPLPTPSQEKSQTEL
  PDEKIGKKRKRKDDGENAKPIKKIIGDGTRDPCLPYSWISPTTGIIISDLTMEMNRFRLIGPLSHSILTEAIKAA
  SVHTVGEDTEETPHRWWIETCKKPDSVSLHCRQEAIFELLGGITSPAEIPAGTILGLTVGDPRINLPQKKSKALP
  NPEKCQDNEKVRQLLLEGVPVECTHSFIWNQDICKSVTENKISDQDLNRMRSELLVPGSQLILGPHESKIPILLI
  QQPGKVTGEDRLGWGSGWDVLLPKGWGMAFWIPFIYRGVRVGGLKESAVHSQYKRSPNVPGDFPDCPAGMLFAEE
  QAKNLLEKYKRRPPAKRPNYVKLGTLAPFCCPWEQLTQDWESRVQAYEEPSVASSPNGKESDLRRSEVPCAPMPK
  KTHQPSDEVGTSIEHPREAEEVMDAGCQESAGPERITDQEASENHVAATGSHLCVLRSRKLLKQLSAWCGPSSED
  SRGGRRAPGRGQQGLTREACLSILGHFPRALVWVSLSLLSKGSPEPHTMICVPAKEDFLQLHEDWHYCGPQESKH
  SDPFRSKILKQKEKKKREKRQKPGRASSDGPAGEEPVAGQEALTLGLWSGPLPRVTLHCSRTLLGFVTQGDFSMA
  VGCGEALGFVSLTGLLDMLSSQPAAQRGLVLLRPPASLQYRFARIAIEV

• Structural information:
  • Interpro: IPR039182  IPR009723  IPR012590  
  • PDB: 6AHR 6AHU
  • PDBsum: 6AHR 6AHU
  • STRING: ENSP00000385787
• Other Databases: GeneCards:  POP1  Malacards:  POP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008033	tRNA processing	IBA	biological process
GO:0005655	nucleolar ribonuclease P complex	IBA	cellular component
GO:0000171	ribonuclease MRP activity	IBA	molecular function
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IBA	biological process
GO:0004526	ribonuclease P activity	IBA	molecular function
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:0004526	ribonuclease P activity	IDA	contributes to
GO:0001682	tRNA 5'-leader removal	IEA	biological process
GO:0005655	nucleolar ribonuclease P complex	IEA	cellular component
GO:0000172	ribonuclease MRP complex	IEA	cellular component
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: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:0000172	ribonuclease MRP 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:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0016078	tRNA catabolic process	IDA	biological process
GO:0005655	nucleolar ribonuclease P complex	IDA	cellular component
GO:0000171	ribonuclease MRP activity	IDA	molecular function
GO:0004526	ribonuclease P activity	IDA	molecular function
GO:0000172	ribonuclease MRP complex	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005615	extracellular space	HDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Anauxetic dysplasia	KEGG:H01967
Anauxetic dysplasia	KEGG:H01967
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray