• Gene id: 5988

Gene Summary

• Gene Symbol: RFPL1   Gene   UCSC   Ensembl
• Aliases: RNF78
• Gene name: ret finger protein like 1
• Alternate names: ret finger protein-like 1, RING finger protein 78,
• Gene location: 22q12.2 (29403030: 29442489)     Exons: 22     NC_000022.11
• OMIM: 605968

Protein Summary

• Protein general information: O75677  
  • Name: Ret finger protein like 1 (RING finger protein 78)
  • Length: 317  
  • Mass: 35491
  • Tissue specificity: Seems to be expressed in prostate and less abundantly in adult brain, fetal liver, and fetal kidney.
• Sequence:

  MKRLSLVTTNRLSPHGNFLPLCTFPLAVDMAALFQEASSCPVCSDYLEKPMSLECGCAVCFKCINSLQKEPHGED
  LLCCCCSMVSQKNKIRPSWQLERLASHIKELEPKLKKILQMNPRMRKFQVDMTLDADTANNFLLISDDLRSVRSG
  CITQNRQDLAERFDVSICILGSPRFTCGRHYWEVDVGTSTEWDLGVCRESVHRKGRIHLTTERGFWTVSLRDGSR
  LSASTVPLTFLFVDRKLQRVGIFLDMGMQNVSFFDAEGGSHVYTFRSVSAEEPLHLFFAPPSPPNGDKSVLSICP
  VINPGTTDAPVHPGEAK

• Structural information:
  • Protein Domains: (107..30-)
    (/note="B30.2/SPRY-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00548"-)
  • Interpro: IPR001870  IPR003879  IPR013320  IPR006574  IPR022723   IPR038908  IPR037960  IPR003877  IPR001841  IPR013083  
  • Prosite: PS50188 PS50089
  • CDD: cd15821
  • STRING: ENSP00000346342
• Other Databases: GeneCards:  RFPL1  Malacards:  RFPL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0005654	nucleoplasm	IBA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0000785	chromatin	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0010972	negative regulation of G2/M transition of mitotic cell cycle	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0051782	negative regulation of cell division	IDA	biological process
GO:0045930	negative regulation of mitotic cell cycle	IDA	biological process
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:2001272	positive regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis	IMP	biological process

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)