• Gene id: 80135

Gene Summary

• Gene Symbol: RPF1   Gene   UCSC   Ensembl
• Aliases: BXDC5
• Gene name: ribosome production factor 1 homolog
• Alternate names: ribosome production factor 1, 2310066N05Rik, RNA processing factor 1 (RPF1), brix domain containing 5, brix domain-containing protein 5, ribosome biogenesis protein RPF1,
• Gene location: 1p22.3 (84479265: 84498351)     Exons: 9     NC_000001.11

Protein Summary

• Protein general information: Q9H9Y2  
  • Name: Ribosome production factor 1 (Brix domain containing protein 5) (Ribosome biogenesis protein RPF1)
  • Length: 349  
  • Mass: 40111
• Sequence:

  MAKAGDKSSSSGKKSLKRKAAAEELQEAAGAGDGATENGVQPPKAAAFPPGFSISEIKNKQRRHLMFTRWKQQQR
  KEKLAAKKKLKKEREALGDKAPPKPVPKTIDNQRVYDETTVDPNDEEVAYDEATDEFASYFNKQTSPKILITTSD
  RPHGRTVRLCEQLSTVIPNSHVYYRRGLALKKIIPQCIARDFTDLIVINEDRKTPNGLILSHLPNGPTAHFKMSS
  VRLRKEIKRRGKDPTEHIPEIILNNFTTRLGHSIGRMFASLFPHNPQFIGRQVATFHNQRDYIFFRFHRYIFRSE
  KKVGIQELGPRFTLKLRSLQKGTFDSKYGEYEWVHKPREMDTSRRKFHL

• Structural information:
  • Protein Domains: (142..32-)
    (/note="Brix-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00034"-)
  • Interpro: IPR007109  
  • Prosite: PS50833
  • STRING: ENSP00000359688
• Other Databases: GeneCards:  RPF1  Malacards:  RPF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000470	maturation of LSU-rRNA	IBA	biological process
GO:0006364	rRNA processing	IBA	biological process
GO:0000460	maturation of 5.8S rRNA	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0030687	preribosome, large subunit precursor	IBA	cellular component
GO:0019843	rRNA binding	IEA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	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:0003723	RNA binding	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)