• Gene id: 494470

Gene Summary

• Gene Symbol: RNF165   Gene   UCSC   Ensembl
• Aliases: ARKL2, Ark2C, RNF111L2
• Gene name: ring finger protein 165
• Alternate names: E3 ubiquitin-protein ligase RNF165,
• Gene location: 18q21.1 (46334017: 46463144)     Exons: 10     NC_000018.10
• Gene summary(Entrez): Encoded in regions involved in pericentric inversions in patients with bipolar affective disorder. [provided by RefSeq, Jul 2008]
• OMIM: 0

Protein Summary

• Protein general information: Q6ZSG1  
  • Name: E3 ubiquitin protein ligase RNF165 (EC 2.3.2.27) (RING finger protein 165)
  • Length: 346  
  • Mass: 39526
• Sequence:

  MVLVHVGYLVLPVFGSVRNRGAPFQRSQHPHATSCRHFHLGPPQPQQLAPDFPLAHPVQSQPGLSAHMAPAHQHS
  GALHQSLTPLPTLQFQDVTGPSFLPQALHQQYLLQQQLLEAQHRRLVSHPRRSQERVSVHPHRLHPSFDFGQLQT
  PQPRYLAEGTDWDLSVDAGLSPAQFQVRPIPQHYQHYLATPRMHHFPRNSSSTQMVVHEIRNYPYPQLHFLALQG
  LNPSRHTSAVRESYEELLQLEDRLGNVTRGAVQNTIERFTFPHKYKKRRPQDGKGKKDEGEESDTDEKCTICLSM
  LEDGEDVRRLPCMHLFHQLCVDQWLAMSKKCPICRVDIETQLGADS

• Structural information:
  • Interpro: IPR001841  IPR011016  IPR013083  
  • Prosite: PS50089
  • PDB: 5D0I 5D0K 5D0M 5ULH 5ULK
  • PDBsum: 5D0I 5D0K 5D0M 5ULH 5ULK
  • DIP: 52693
  • STRING: ENSP00000269439
• Other Databases: GeneCards:  RNF165  Malacards:  RNF165

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030513	positive regulation of BMP signaling pathway	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0008045	motor neuron axon guidance	IBA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0035136	forelimb morphogenesis	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0061061	muscle structure development	IEA	biological process
GO:0060384	innervation	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0030163	protein catabolic process	IEA	biological process
GO:0010259	multicellular organism aging	IEA	biological process
GO:0008045	motor neuron axon guidance	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000209	protein polyubiquitination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
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