• Gene id: 158399

Gene Summary

• Gene Symbol: ZNF483   Gene   UCSC   Ensembl
• Aliases: ZKSCAN16, ZSCAN48
• Gene name: zinc finger protein 483
• Alternate names: zinc finger protein 483, zinc finger protein HIT-10, zinc finger protein with KRAB and SCAN domains 16,
• Gene location: 9q31.3 (111525158: 111578116)     Exons: 10     NC_000009.12

Protein Summary

• Protein general information: Q8TF39  
  • Name: Zinc finger protein 483 (Zinc finger protein with KRAB and SCAN domains 16)
  • Length: 744  
  • Mass: 85098
• Sequence:

  MQAVVPLNKMTAISPEPQTLASTEQNEVPRVVTSGEQEAILRGNAADAESFRQRFRWFCYSEVAGPRKALSQLWE
  LCNQWLRPDIHTKEQILELLVFEQFLTILPGEIRIWVKSQHPESSEEVVTLIEDLTQMLEEKDPVSQDSTVSQEE
  NSKEDKMVTVCPNTESCESITLKDVAVNFSRGEWKKLEPFQKELYKEVLLENLRNLEFLDFPVSKLELISQLKWV
  ELPWLLEEVSKSSRLDESALDKIIERCLRDDDHGLMEESQQYCGSSEEDHGNQGNSKGRVAQNKTLGSGSRGKKF
  DPDKSPFGHNFKETSDLIKHLRVYLRKKSRRYNESKKPFSFHSDLVLNRKEKTAGEKSRKSNDGGKVLSHSSALT
  EHQKRQKIHLGDRSQKCSKCGIIFIRRSTLSRRKTPMCEKCRKDSCQEAALNKDEGNESGEKTHKCSKCGKAFGY
  SASLTKHRRIHTGEKPYMCNECGKAFSDSSSLTPHHRTHSGEKPFKCDDCGKGFTLSAHLIKHQRIHTGEKPYKC
  KDCGRPFSDSSSLIQHQRIHTGEKPYTCSNCGKSFSHSSSLSKHQRIHTGEKPYKCGECGKAFRQNSCLTRHQRI
  HTGEKPYLCNDCGMTFSHFTSVIYHQRLHSGEKPYKCNQCEKAFPTHSLLSRHQRIHTGVKPYKCKECGKSFSQS
  SSLNEHHRIHTGEKPYECNYCGATFSRSSILVEHLKIHTGRREYECNECEKTFKSNSGLIRHRGFHSAE

• Structural information:
  • Protein Domains: (52..13-)
    (/note="SCAN-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00187-)
    (170..24-)
    (/note="KRAB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00119"-)
  • Interpro: IPR001909  IPR036051  IPR003309  IPR038269  IPR036236   IPR013087  
  • Prosite: PS50805 PS50804 PS00028 PS50157
  • CDD: cd07765 cd07936
  • PDB: 2CTU
  • PDBsum: 2CTU
  • STRING: ENSP00000311679
• Other Databases: GeneCards:  ZNF483  Malacards:  ZNF483

Gene ontology

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

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray