• Gene id: 79863

Gene Summary

• Gene Symbol: RBFA   Gene   UCSC   Ensembl
• Aliases: C18orf22, HsT169
• Gene name: ribosome binding factor A
• Alternate names: putative ribosome-binding factor A, mitochondrial, ribosome binding factor A (putative),
• Gene location: 18q23 (80034433: 80050650)     Exons: 7     NC_000018.10

Protein Summary

• Protein general information: Q8N0V3  
  • Name: Putative ribosome binding factor A, mitochondrial
  • Length: 343  
  • Mass: 38359
• Sequence:

  MWAAAGGLWRSRAGLRALFRSRDAALFPGCERGLHCSAVSCKNWLKKFASKTKKKVWYESPSLGSHSTYKPSKLE
  FLMRSTSKKTRKEDHARLRALNGLLYKALTDLLCTPEVSQELYDLNVELSKVSLTPDFSACRAYWKTTLSAEQNA
  HMEAVLQRSAAHMRHLLMSQQTLRNVPPIVFVQDKGNAALAELDQLLAVADFGPRDERDNFVQNDFRDPDAPQPC
  GTTEPTTSSSLCGIDHEALNKQIMEYKRRKDKGLGGLVWQGQVAELTTQMKKGRKRAKPRLEQDSSLKSYLSGEE
  VEDDLDLVGAPEYECYAPDTEELEAERGGGRTEDGHSCGASRE

• Structural information:
  • Interpro: IPR015946  IPR000238  IPR023799  IPR039212  IPR020053  
  • Prosite: PS01319
  • PDB: 2E7G
  • PDBsum: 2E7G
  • STRING: ENSP00000305696
• Other Databases: GeneCards:  RBFA  Malacards:  RBFA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006364	rRNA processing	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006364	rRNA processing	IEA	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: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: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:0003674	molecular_function	ND	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray