• Gene id: 56254

Gene Summary

• Gene Symbol: RNF20   Gene   UCSC   Ensembl
• Aliases: BRE1, BRE1A, hBRE1
• Gene name: ring finger protein 20
• Alternate names: E3 ubiquitin-protein ligase BRE1A, BRE1 E3 ubiquitin ligase homolog, RING-type E3 ubiquitin transferase BRE1A, homolog of S. cerevisiae BRE1,
• Gene location: 9q31.1 (101533852: 101563343)     Exons: 21     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This protein acts as a putative tumor su
• OMIM: 607699

Protein Summary

• Protein general information: Q5VTR2  
  • Name: E3 ubiquitin protein ligase BRE1A (BRE1 A) (hBRE1) (EC 2.3.2.27) (RING finger protein 20) (RING type E3 ubiquitin transferase BRE1A)
  • Length: 975  
  • Mass: 113662
  • Tissue specificity: Expressed in the normal brain and also in malignant gliomas (at protein level). {ECO
• Sequence:

  MSGIGNKRAAGEPGTSMPPEKKAAVEDSGTTVETIKLGGVSSTEELDIRTLQTKNRKLAEMLDQRQAIEDELREH
  IEKLERRQATDDASLLIVNRYWSQFDENIRIILKRYDLEQGLGDLLTERKALVVPEPEPDSDSNQERKDDRERGE
  GQEPAFSFLATLASSSSEEMESQLQERVESSRRAVSQIVTVYDKLQEKVELLSRKLNSGDNLIVEEAVQELNSFL
  AQENMRLQELTDLLQEKHRTMSQEFSKLQSKVETAESRVSVLESMIDDLQWDIDKIRKREQRLNRHLAEVLERVN
  SKGYKVYGAGSSLYGGTITINARKFEEMNAELEENKELAQNRLCELEKLRQDFEEVTTQNEKLKVELRSAVEQVV
  KETPEYRCMQSQFSVLYNESLQLKAHLDEARTLLHGTRGTHQHQVELIERDEVSLHKKLRTEVIQLEDTLAQVRK
  EYEMLRIEFEQTLAANEQAGPINREMRHLISSLQNHNHQLKGEVLRYKRKLREAQSDLNKTRLRSGSALLQSQSS
  TEDPKDEPAELKPDSEDLSSQSSASKASQEDANEIKSKRDEEERERERREKEREREREREKEKEREREKQKLKES
  EKERDSAKDKEKGKHDDGRKKEAEIIKQLKIELKKAQESQKEMKLLLDMYRSAPKEQRDKVQLMAAEKKSKAELE
  DLRQRLKDLEDKEKKENKKMADEDALRKIRAVEEQIEYLQKKLAMAKQEEEALLSEMDVTGQAFEDMQEQNIRLM
  QQLREKDDANFKLMSERIKSNQIHKLLKEEKEELADQVLTLKTQVDAQLQVVRKLEEKEHLLQSNIGTGEKELGL
  RTQALEMNKRKAMEAAQLADDLKAQLELAQKKLHDFQDEIVENSVTKEKDMFNFKRAQEDISRLRRKLETTKKPD
  NVPKCDEILMEEIKDYKARLTCPCCNMRKKDAVLTKCFHVFCFECVKTRYDTRQRKCPKCNAAFGANDFHRIYIG

• Structural information:
  • Interpro: IPR013956  IPR001841  IPR013083  IPR017907  
  • Prosite: PS00518 PS50089
  • PDB: 5TRB
  • PDBsum: 5TRB
  • DIP: 53411
  • STRING: ENSP00000373772
• Other Databases: GeneCards:  RNF20  Malacards:  RNF20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033503	HULC complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0010390	histone monoubiquitination	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042802	identical 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:0031062	positive regulation of histone methylation	IEA	biological process
GO:0016574	histone ubiquitination	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0010390	histone monoubiquitination	IDA	biological process
GO:0010390	histone monoubiquitination	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0042393	histone binding	IDA	molecular function
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	contributes to
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0033523	histone H2B ubiquitination	IDA	biological process
GO:0033523	histone H2B ubiquitination	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0002039	p53 binding	IDA	molecular function
GO:1900364	negative regulation of mRNA polyadenylation	IMP	biological process
GO:2001168	positive regulation of histone H2B ubiquitination	IMP	biological process
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0007346	regulation of mitotic cell cycle	IMP	NOT|biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process

Diseases

Associated diseases	References
Breast cancer	PMID:18832071
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq