• Gene id: 23598

Gene Summary

• Gene Symbol: PATZ1   Gene   UCSC   Ensembl
• Aliases: MAZR, PATZ, RIAZ, ZBTB19, ZNF278, ZSG, dJ400N23
• Gene name: POZ/BTB and AT hook containing zinc finger 1
• Alternate names: POZ-, AT hook-, and zinc finger-containing protein 1, BTB-POZ domain zinc finger transcription factor, MAZ-related factor, POZ-AT hook-zinc finger protein, protein kinase A RI subunit alpha-associated protein, zinc finger and BTB domain-containing protein,
• Gene location: 22q12.2 (31346262: 31325803)     Exons: 6     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for p
• OMIM: 605165

SNPs

rs2057951

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.31334059A>G
NC_000022.10   g.31730045A>G|SEQ=[A/G]|GENE=PATZ1
PIK3IP1-DT   101929760

Protein Summary

• Protein general information: Q9HBE1  
  • Name: POZ , AT hook , and zinc finger containing protein 1 (BTB/POZ domain zinc finger transcription factor) (Protein kinase A RI subunit alpha associated protein) (Zinc finger and BTB domain containing protein 19) (Zinc finger protein 278) (Zinc finger sarcoma
  • Length: 687  
  • Mass: 74,060
• Sequence:

  MERVNDASCGPSGCYTYQVSRHSTEMLHNLNQQRKNGGRFCDVLLRVGDESFPAHRAVLAACSEYFESVFSAQLG
  DGGAADGGPADVGGATAAPGGGAGGSRELEMHTISSKVFGDILDFAYTSRIVVRLESFPELMTAAKFLLMRSVIE
  ICQEVIKQSNVQILVPPARADIMLFRPPGTSDLGFPLDMTNGAALAANSNGIAGSMQPEEEAARAAGAAIAGQAS
  LPVLPGVDRLPMVAGPLSPQLLTSPFPSVASSAPPLTGKRGRGRPRKANLLDSMFGSPGGLREAGILPCGLCGKV
  FTDANRLRQHEAQHGVTSLQLGYIDLPPPRLGENGLPISEDPDGPRKRSRTRKQVACEICGKIFRDVYHLNRHKL
  SHSGEKPYSCPVCGLRFKRKDRMSYHVRSHDGSVGKPYICQSCGKGFSRPDHLNGHIKQVHTSERPHKCQTCNAS
  FATRDRLRSHLACHEDKVPCQVCGKYLRAAYMADHLKKHSEGPSNFCSICNRGFSSASYLKVHVKTHHGVPLPQV
  SRHQEPILNGGAAFHCARTYGNKEGQKCSHQDPIESSDSYGDLSDASDLKTPEKQSANGSFSCDMAVPKNKMESD
  GEKKYPCPECGSFFRSKSYLNKHIQKVHVRALGGPLGDLGPALGSPFSPQQNMSLLESFGFQIVQSAFASSLVDP
  EVDQQPMGPEGK

• Structural information:
  • Protein Domains: BTB. (41-130)
  • Interpro: IPR000210  IPR000637  IPR011333  IPR036236  IPR013087  
  • Prosite: PS50097 PS00354 PS00028 PS50157
  • PDB: 2EPP 2EPQ 2EPR 2EPS 2YT9
  • PDBsum: 2EPP 2EPQ 2EPR 2EPS 2YT9
  • STRING: ENSP00000266269
• Other Databases: GeneCards:  PATZ1  Malacards:  PATZ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IEA	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	TAS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	TAS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	TAS	biological process

Diseases

Associated diseases	References
Azoospermia	MIK: 20677143
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 20677143

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20677143	Azoospermia	PTAZ1 (rs2057951)		370 (180 patients with azoospermia, 190 normal men as controls)	Male infertility	PATZ1
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881