• Gene id: 84838

Gene Summary

• Gene Symbol: ZNF496   Gene   UCSC   Ensembl
• Aliases: NIZP1, ZFP496, ZKSCAN17, ZSCAN49
• Gene name: zinc finger protein 496
• Alternate names: zinc finger protein 496, NSD1 (nuclear receptor binding SET-domain containing 1)-interacting zinc finger protein 1, zinc finger protein with KRAB and SCAN domains 17,
• Gene location: 1q44 (112447602: 112424410)     Exons: 16     NC_000010.11
• OMIM: 613911

Protein Summary

• Protein general information: Q96IT1  
  • Name: Zinc finger protein 496 (Zinc finger protein with KRAB and SCAN domains 17)
  • Length: 587  
  • Mass: 66908
• Sequence:

  MPTALCPRVLAPKESEEPRKMRSPPGENPSPQGELPSPESSRRLFRRFRYQEAAGPREALQRLWDLCGGWLRPER
  HTKEQILELLVLEQFLAILPREIQSWVRAQEPESGEQAVAAVEALEREPGRPWQWLKHCEDPVVIDDGDSPLDQE
  QEQLPVEPHSDLAKNQDAQPITLAQCLGLPSRPPSQLSGDPVLQDAFLLQEENVRDTQQVTTLQLPPSRVSPFKD
  MILCFSEEDWSLLDPAQTGFYGEFIIGEDYGVSMPPNDLAAQPDLSQGEENEPRVPELQDLQGKEVPQVSYLDSP
  SLQPFQVEERRKREELQVPEFQACPQTVVPQNTYPAGGNPRSLENSLDEEVTIEIVLSSSGDEDSQHGPYCTEEL
  GSPTEKQRSLPASHRSSTEAGGEVQTSKKSYVCPNCGKIFRWRVNFIRHLRSRREQEKPHECSVCGELFSDSEDL
  DGHLESHEAQKPYRCGACGKSFRLNSHLLSHRRIHLQPDRLQPVEKREQAASEDADKGPKEPLENGKAKLSFQCC
  ECGKAFQRHDHLARHRSHFHLKDKARPFQCRYCVKSFTQNYDLLRHERLHMKRRSKQALNSY

• Structural information:
  • Protein Domains: (42..12-)
    (/note="SCAN-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00187-)
    (221..29-)
    (/note="KRAB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00119"-)
  • Interpro: IPR001909  IPR036051  IPR003309  IPR038269  IPR027767   IPR036236  IPR013087  
  • Prosite: PS50805 PS50804 PS00028 PS50157
  • CDD: cd07765 cd07936
  • STRING: ENSP00000294753
• Other Databases: GeneCards:  ZNF496  Malacards:  ZNF496

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0003677	DNA binding	ISS	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	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: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:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881