• Gene id: 3104

Gene Summary

• Gene Symbol: ZBTB48   Gene   UCSC   Ensembl
• Aliases: HKR3, TZAP, ZNF855, pp9964
• Gene name: zinc finger and BTB domain containing 48
• Alternate names: telomere zinc finger-associated protein, GLI-Kruppel family member HKR3, krueppel-related zinc finger protein 3, telomeric zinc finger-associated protein, zinc finger and BTB domain-containing protein 48, zinc finger protein 855,
• Gene location: 1p36.31 (6579993: 6589279)     Exons: 12     NC_000001.11
• OMIM: 606326

Protein Summary

• Protein general information: P10074  
  • Name: Telomere zinc finger associated protein (TZAP) (Krueppel related zinc finger protein 3) (hKR3) (Zinc finger and BTB domain containing protein 48) (Zinc finger protein 855)
  • Length: 688  
  • Mass: 77054
  • Tissue specificity: Detected in adrenal gland and neuroblastoma. {ECO
• Sequence:

  MDGSFVQHSVRVLQELNKQREKGQYCDATLDVGGLVFKAHWSVLACCSHFFQSLYGDGSGGSVVLPAGFAEIFGL
  LLDFFYTGHLALTSGNRDQVLLAARELRVPEAVELCQSFKPKTSVGQAAGGQSGLGPPASQNVNSHVKEPAGLEE
  EEVSRTLGLVPRDQEPRGSHSPQRPQLHSPAQSEGPSSLCGKLKQALKPCPLEDKKPEDCKVPPRPLEAEGAQLQ
  GGSNEWEVVVQVEDDGDGDYMSEPEAVLTRRKSNVIRKPCAAEPALSAGSLAAEPAENRKGTAVPVECPTCHKKF
  LSKYYLKVHNRKHTGEKPFECPKCGKCYFRKENLLEHEARNCMNRSEQVFTCSVCQETFRRRMELRVHMVSHTGE
  MPYKCSSCSQQFMQKKDLQSHMIKLHGAPKPHACPTCAKCFLSRTELQLHEAFKHRGEKLFVCEECGHRASSRNG
  LQMHIKAKHRNERPHVCEFCSHAFTQKANLNMHLRTHTGEKPFQCHLCGKTFRTQASLDKHNRTHTGERPFSCEF
  CEQRFTEKGPLLRHVASRHQEGRPHFCQICGKTFKAVEQLRVHVRRHKGVRKFECTECGYKFTRQAHLRRHMEIH
  DRVENYNPRQRKLRNLIIEDEKMVVVALQPPAELEVGSAEVIVESLAQGGLASQLPGQRLCAEESFTGPGVLEPS
  LIITAAVPEDCDT

• Structural information:
  • Protein Domains: (26..8-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR011333  IPR036236  IPR013087  
  • Prosite: PS50097 PS00028 PS50157
  • PDB: 3B84 5YJ3
  • PDBsum: 3B84 5YJ3
  • STRING: ENSP00000366902
• Other Databases: GeneCards:  ZBTB48  Malacards:  ZBTB48

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000781	chromosome, telomeric region	IDA	cellular component
GO:0000781	chromosome, telomeric region	IDA	cellular component
GO:0003691	double-stranded telomeric DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0010833	telomere maintenance via telomere lengthening	IMP	biological process
GO:0010833	telomere maintenance via telomere lengthening	IMP	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881