• Gene id: 55422

Gene Summary

• Gene Symbol: ZNF331   Gene   UCSC   Ensembl
• Aliases: RITA, ZNF361, ZNF463
• Gene name: zinc finger protein 331
• Alternate names: zinc finger protein 331, C2H2-like zinc finger protein rearranged in thyroid adenomas, KRAB zinc finger protein, zinc finger protein 361, zinc finger protein 463,
• Gene location: 19q13.42 (53503818: 53580268)     Exons: 21     NC_000019.10
• Gene summary(Entrez): This gene encodes a zinc finger protein containing a KRAB (Kruppel-associated box) domain found in transcriptional repressors. This gene may be methylated and silenced in cancer cells. This gene is located within a differentially methylated region (DMR) a
• OMIM: 606043

Protein Summary

• Protein general information: Q9NQX6  
  • Name: Zinc finger protein 331 (C2H2 like zinc finger protein rearranged in thyroid adenomas) (Zinc finger protein 361) (Zinc finger protein 463)
  • Length: 463  
  • Mass: 53,739
• Sequence:

  MAQGLVTFADVAIDFSQEEWACLNSAQRDLYWDVMLENYSNLVSLDLESAYENKSLPTEKNIHEIRASKRNSDRR
  SKSLGRNWICEGTLERPQRSRGRYVNQMIINYVKRPATREGTPPRTHQRHHKENSFECKDCGKAFSRGYQLSQHQ
  KIHTGEKPYECKECKKAFRWGNQLTQHQKIHTGEKPYECKDCGKAFRWGSSLVIHKRIHTGEKPYECKDCGKAFR
  RGDELTQHQRFHTGEKDYECKDCGKTFSRVYKLIQHKRIHSGEKPYECKDCGKAFICGSSLIQHKRIHTGEKPYE
  CQECGKAFTRVNYLTQHQKIHTGEKPHECKECGKAFRWGSSLVKHERIHTGEKPYKCTECGKAFNCGYHLTQHER
  IHTGETPYKCKECGKAFIYGSSLVKHERIHTGVKPYGCTECGKSFSHGHQLTQHQKTHSGAKSYECKECGKACNH
  LNHLREHQRIHNS

• Structural information:
  • Protein Domains: KRAB. (6-78)
  • Interpro: IPR001909  IPR036051  IPR036236  IPR013087  
  • Prosite: PS50805 PS00028 PS50157
  • CDD: cd07765
  • STRING: ENSP00000253144
• Other Databases: GeneCards:  ZNF331  Malacards:  ZNF331

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0008270	zinc ion binding	NAS	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0008270	zinc ion binding	NAS	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0008270	zinc ion binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection

Diseases

Associated diseases	References
Azoospermia	MIK: 11267678
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 11267678
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
11267678	Azoospermia				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R