• Gene id: 90850

Gene Summary

• Gene Symbol: ZNF598   Gene   UCSC   Ensembl
• Aliases: HEL2
• Gene name: zinc finger protein 598, E3 ubiquitin ligase
• Alternate names: E3 ubiquitin-protein ligase ZNF598, zinc finger protein 598,
• Gene location: 16p13.3 (2009820: 1997653)     Exons: 12     NC_000016.10
• Gene summary(Entrez): Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF protein 2 have been identified as a components of the mamm
• OMIM: 604927

Protein Summary

• Protein general information: Q86UK7  
  • Name: E3 ubiquitin protein ligase ZNF598 (EC 2.3.2.27) (Zinc finger protein 598)
  • Length: 904  
  • Mass: 98637
• Sequence:

  MAAAGGAEGRRAALEAAAAAAPERGGGSCVLCCGDLEATALGRCDHPVCYRCSTKMRVLCEQRYCAVCREELRQV
  VFGKKLPAFATIPIHQLQHEKKYDIYFADGKVYALYRQLLQHECPRCPELPPFSLFGDLEQHMRRQHELFCCRLC
  LQHLQIFTYERKWYSRKDLARHRMQGDPDDTSHRGHPLCKFCDERYLDNDELLKHLRRDHYFCHFCDSDGAQDYY
  SDYAYLREHFREKHFLCEEGRCSTEQFTHAFRTEIDLKAHRTACHSRSRAEARQNRHIDLQFSYAPRHSRRNEGV
  VGGEDYEEVDRYSRQGRVARAGTRGAQQSRRGSWRYKREEEDREVAAAVRASVAAQQQEEARRSEDQEEGGRPKK
  EEAAARGPEDPRGPRRSPRTQGEGPGPKETSTNGPVSQEAFSVTGPAAPGCVGVPGALPPPSPKLKDEDFPSLSA
  STSSSCSTAATPGPVGLALPYAIPARGRSAFQEEDFPALVSSVPKPGTAPTSLVSAWNSSSSSKKVAQPPLSAQA
  TGSGQPTRKAGKGSRGGRKGGPPFTQEEEEDGGPALQELLSTRPTGSVSSTLGLASIQPSKVGKKKKVGSEKPGT
  TLPQPPPATCPPGALQAPEAPASRAEGPVAVVVNGHTEGPAPARSAPKEPPGLPRPLGSFPCPTPQEDFPALGGP
  CPPRMPPPPGFSAVVLLKGTPPPPPPGLVPPISKPPPGFSGLLPSPHPACVPSPATTTTTKAPRLLPAPRAYLVP
  ENFRERNLQLIQSIRDFLQSDEARFSEFKSHSGEFRQGLISAAQYYKSCRDLLGENFQKVFNELLVLLPDTAKQQ
  ELLSAHTDFCNREKPLSTKSKKNKKSAWQATTQQAGLDCRVCPTCQQVLAHGDASSHQALHAARDDDFPSLQAIA
  RIIT

• Structural information:
  • Interpro: IPR041888  IPR013087  IPR001841  
  • Prosite: PS50089 PS00028
  • CDD: cd16615
  • STRING: ENSP00000411409
• Other Databases: GeneCards:  ZNF598  Malacards:  ZNF598

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043022	ribosome binding	IDA	molecular function
GO:0043022	ribosome binding	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0072344	rescue of stalled ribosome	IDA	biological process
GO:0006513	protein monoubiquitination	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IMP	molecular function
GO:0072344	rescue of stalled ribosome	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016567	protein ubiquitination	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006417	regulation of translation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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