• Gene id: 257101

Gene Summary

• Gene Symbol: ZNF683   Gene   UCSC   Ensembl
• Aliases: Hobit
• Gene name: zinc finger protein 683
• Alternate names: tissue-resident T-cell transcription regulator protein ZNF683, homolog of Blimp-1 in T cells, homolog of Blimp-1 in T-cell, hypothetical protein MGC33414,
• Gene location: 1p36.11 (26374535: 26361631)     Exons: 4     NC_000001.11
• OMIM: 616775

Protein Summary

• Protein general information: Q8IZ20  
  • Name: Tissue resident T cell transcription regulator protein ZNF683 (Homolog of Blimp 1 in T cell) (Hobit) (Zinc finger protein 683)
  • Length: 524  
  • Mass: 56905
  • Tissue specificity: Expressed in terminally differentiated effector CD8(+) T-cells, but not in naive and central memory cells (PubMed
• Sequence:

  MKEESAAQLGCCHRPMALGGTGGSLSPSLDFQLFRGDQVFSACRPLPDMVDAHGPSCASWLCPLPLAPGRSALLA
  CLQDLDLNLCTPQPAPLGTDLQGLQEDALSMKHEPPGLQASSTDDKKFTVKYPQNKDKLGKQPERAGEGAPCPAF
  SSHNSSSPPPLQNRKSPSPLAFCPCPPVNSISKELPFLLHAFYPGYPLLLPPPHLFTYGALPSDQCPHLLMLPQD
  PSYPTMAMPSLLMMVNELGHPSARWETLLPYPGAFQASGQALPSQARNPGAGAAPTDSPGLERGGMASPAKRVPL
  SSQTGTAALPYPLKKKNGKILYECNICGKSFGQLSNLKVHLRVHSGERPFQCALCQKSFTQLAHLQKHHLVHTGE
  RPHKCSIPWVPGRNHWKSFQAWREREVCHKRFSSSSNLKTHLRLHSGARPFQCSVCRSRFTQHIHLKLHHRLHAP
  QPCGLVHTQLPLASLACLAQWHQGALDLMAVASEKHMGYDIDEVKVSSTSQGKARAVSLSSAGTPLVMGQDQNN

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000344095
• Other Databases: GeneCards:  ZNF683  Malacards:  ZNF683

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990841	promoter-specific chromatin binding	ISS	molecular function
GO:0051136	regulation of NK T cell differentiation	ISS	biological process
GO:0033082	regulation of extrathymic T cell differentiation	ISS	biological process
GO:0032823	regulation of natural killer cell differentiation	ISS	biological process
GO:0032826	regulation of natural killer cell differentiation involved in immune response	ISS	biological process
GO:0010468	regulation of gene expression	ISS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0002250	adaptive immune response	IEA	biological process
GO:0016032	viral process	IEA	biological process
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:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)