• Gene id: 9810

Gene Summary

• Gene Symbol: RNF40   Gene   UCSC   Ensembl
• Aliases: BRE1B, RBP95, STARING
• Gene name: ring finger protein 40
• Alternate names: E3 ubiquitin-protein ligase BRE1B, 95 kDa retinoblastoma protein binding protein, 95 kDa retinoblastoma-associated protein, BRE1 E3 ubiquitin ligase homolog B, BRE1-B, RING-type E3 ubiquitin transferase BRE1B, Rb-associated protein, ring finger protein 40, E3 ub,
• Gene location: 16p11.2 (30761611: 30800230)     Exons: 22     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested th
• OMIM: 607700

Protein Summary

• Protein general information: O75150  
  • Name: E3 ubiquitin protein ligase BRE1B (BRE1 B) (EC 2.3.2.27) (95 kDa retinoblastoma associated protein) (RBP95) (RING finger protein 40) (RING type E3 ubiquitin transferase BRE1B)
  • Length: 1001  
  • Mass: 113678
  • Tissue specificity: Ubiquitously expressed. Expressed at higher level in testis, heart and pancreas, while it is only weakly expressed in lung, skeletal muscle and small intestine. {ECO
• Sequence:

  MSGPGNKRAAGDGGSGPPEKKLSREEKTTTTLIEPIRLGGISSTEEMDLKVLQFKNKKLAERLEQRQACEDELRE
  RIEKLEKRQATDDATLLIVNRYWAQLDETVEALLRCHESQGELSSAPEAPGTQEGPTCDGTPLPEPGTSELRDPL
  LMQLRPPLSEPALAFVVALGASSSEEVELELQGRMEFSKAAVSRVVEASDRLQRRVEELCQRVYSRGDSEPLSEA
  AQAHTRELGRENRRLQDLATQLQEKHHRISLEYSELQDKVTSAETKVLEMETTVEDLQWDIEKLRKREQKLNKHL
  AEALEQLNSGYYVSGSSSGFQGGQITLSMQKFEMLNAELEENQELANSRMAELEKLQAELQGAVRTNERLKVALR
  SLPEEVVRETGEYRMLQAQFSLLYNESLQVKTQLDEARGLLLATKNSHLRHIEHMESDELGLQKKLRTEVIQLED
  TLAQVRKEYEMLRIEFEQNLAANEQAGPINREMRHLISSLQNHNHQLKGDAQRYKRKLREVQAEIGKLRAQASGS
  AHSTPNLGHPEDSGVSAPAPGKEEGGPGPVSTPDNRKEMAPVPGTTTTTTSVKKEELVPSEEDFQGITPGAQGPS
  SRGREPEARPKRELREREGPSLGPPPVASALSRADREKAKVEETKRKESELLKGLRAELKKAQESQKEMKLLLDM
  YKSAPKEQRDKVQLMAAERKAKAEVDELRSRIRELEERDRRESKKIADEDALRRIRQAEEQIEHLQRKLGATKQE
  EEALLSEMDVTGQAFEDMQEQNGRLLQQLREKDDANFKLMSERIKANQIHKLLREEKDELGEQVLGLKSQVDAQL
  LTVQKLEEKERALQGSLGGVEKELTLRSQALELNKRKAVEAAQLAEDLKVQLEHVQTRLREIQPCLAESRAAREK
  ESFNLKRAQEDISRLRRKLEKQRKVEVYADADEILQEEIKEYKARLTCPCCNTRKKDAVLTKCFHVFCFECVRGR
  YEARQRKCPKCNAAFGAHDFHRIYIS

• Structural information:
  • Interpro: IPR013956  IPR001841  IPR013083  IPR017907  
  • Prosite: PS00518 PS50089
  • STRING: ENSP00000325677
• Other Databases: GeneCards:  RNF40  Malacards:  RNF40

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:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	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: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:1902916	positive regulation of protein polyubiquitination	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0019898	extrinsic component of membrane	IEA	cellular component
GO:0017075	syntaxin-1 binding	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:1901800	positive regulation of proteasomal protein catabolic process	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043679	axon terminus	IEA	cellular component
GO:0043434	response to peptide hormone	IEA	biological process
GO:0031624	ubiquitin conjugating enzyme binding	IEA	molecular function
GO:2001168	positive regulation of histone H2B ubiquitination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0033523	histone H2B ubiquitination	IDA	biological process
GO:0010390	histone monoubiquitination	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	contributes to
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0043005	neuron projection	ISS	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007346	regulation of mitotic cell cycle	IMP	NOT|biological process
GO:1900364	negative regulation of mRNA polyadenylation	IMP	biological process
GO:2001168	positive regulation of histone H2B ubiquitination	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq