• Gene id: 22890

Gene Summary

• Gene Symbol: ZBTB1   Gene   UCSC   Ensembl
• Aliases: ZNF909
• Gene name: zinc finger and BTB domain containing 1
• Alternate names: zinc finger and BTB domain-containing protein 1,
• Gene location: 14q23.3 (64504573: 64533692)     Exons: 5     NC_000014.9
• OMIM: 610299

Protein Summary

• Protein general information: Q9Y2K1  
  • Name: Zinc finger and BTB domain containing protein 1
  • Length: 713  
  • Mass: 82016
• Sequence:

  MAKPSHSSYVLQQLNNQREWGFLCDCCIAIDDIYFQAHKAVLAACSSYFRMFFMNHQHSTAQLNLSNMKISAECF
  DLILQFMYLGKIMTAPSSFEQFKVAMNYLQLYNVPDCLEDIQDADCSSSKCSSSASSKQNSKMIFGVRMYEDTVA
  RNGNEANRWCAEPSSTVNTPHNREADEESLQLGNFPEPLFDVCKKSSVSKLSTPKERVSRRFGRSFTCDSCGFGF
  SCEKLLDEHVLTCTNRHLYQNTRSYHRIVDIRDGKDSNIKAEFGEKDSSKTFSAQTDKYRGDTSQAADDSASTTG
  SRKSSTVESEIASEEKSRAAERKRIIIKMEPEDIPTDELKDFNIIKVTDKDCNESTDNDELEDEPEEPFYRYYVE
  EDVSIKKSGRKTLKPRMSVSADERGGLENMRPPNNSSPVQEDAENASCELCGLTITEEDLSSHYLAKHIENICAC
  GKCGQILVKGRQLQEHAQRCGEPQDLTMNGLGNTEEKMDLEENPDEQSEIRDMFVEMLDDFRDNHYQINSIQKKQ
  LFKHSACPFRCPNCGQRFETENLVVEHMSSCLDQDMFKSAIMEENERDHRRKHFCNLCGKGFYQRCHLREHYTVH
  TKEKQFVCQTCGKQFLRERQLRLHNDMHKGMARYVCSICDQGNFRKHDHVRHMISHLSAGETICQVCFQIFPNNE
  QLEQHMDVHLYTCGICGAKFNLRKDMRSHYNAKHLKRT

• Structural information:
  • Protein Domains: (24..9-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR011333  IPR036236  IPR013087  
  • Prosite: PS50097 PS00028 PS50157
  • STRING: ENSP00000451000
• Other Databases: GeneCards:  ZBTB1  Malacards:  ZBTB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005654	nucleoplasm	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042789	mRNA transcription by RNA polymerase II	IDA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0051260	protein homooligomerization	IDA	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0016604	nuclear body	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0048538	thymus development	ISS	biological process
GO:0045582	positive regulation of T cell differentiation	ISS	biological process
GO:0002711	positive regulation of T cell mediated immunity	ISS	biological process
GO:0006281	DNA repair	IMP	biological process
GO:0019985	translesion synthesis	IMP	biological process
GO:2000176	positive regulation of pro-T cell differentiation	ISS	biological process
GO:0032825	positive regulation of natural killer cell differentiation	ISS	biological process
GO:0006338	chromatin remodeling	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0034644	cellular response to UV	IMP	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0006281	DNA repair	IEA	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:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	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:0048538	thymus development	IEA	biological process
GO:0045582	positive regulation of T cell differentiation	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0030183	B cell differentiation	IEA	biological process
GO:0002711	positive regulation of T cell mediated immunity	IEA	biological process
GO:2000176	positive regulation of pro-T cell differentiation	IEA	biological process
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0032825	positive regulation of natural killer cell differentiation	IEA	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031965	nuclear membrane	IDA	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