• Gene id: 55299

Gene Summary

• Gene Symbol: BRIX1   Gene   UCSC   Ensembl
• Aliases: BRIX, BXDC2
• Gene name: biogenesis of ribosomes BRX1
• Alternate names: ribosome biogenesis protein BRX1 homolog, BRX1, biogenesis of ribosomes, homolog, brix domain containing 2, brix domain-containing protein 2,
• Gene location: 5p13.2 (88149958: 88157965)     Exons: 3     NC_000003.12
• OMIM: 618466

Protein Summary

• Protein general information: Q8TDN6  
  • Name: Ribosome biogenesis protein BRX1 homolog (Brix domain containing protein 2)
  • Length: 353  
  • Mass: 41401
• Sequence:

  MAATKRKRRGGFAVQAKKPKRNEIDAEPPAKRHATAEEVEEEERDRIPGPVCKGKWKNKERILIFSSRGINFRTR
  HLMQDLRMLMPHSKADTKMDRKDKLFVINEVCEMKNCNKCIYFEAKKKQDLYMWLSNSPHGPSAKFLVQNIHTLA
  ELKMTGNCLKGSRPLLSFDPAFDELPHYALLKELLIQIFSTPRYHPKSQPFVDHVFTFTILDNRIWFRNFQIIEE
  DAALVEIGPRFVLNLIKIFQGSFGGPTLYENPHYQSPNMHRRVIRSITAAKYREKQQVKDVQKLRKKEPKTLLPH
  DPTADVFVTPAEEKPIEIQWVKPEPKVDLKARKKRIYKRQRKMKQRMDSGKTK

• Structural information:
  • Protein Domains: (60..24-)
    (/note="Brix-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00034"-)
  • Interpro: IPR007109  IPR026532  
  • Prosite: PS50833
  • STRING: ENSP00000338862
• Other Databases: GeneCards:  BRIX1  Malacards:  BRIX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IBA	cellular component
GO:0000027	ribosomal large subunit assembly	IBA	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:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component

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)