• Gene id: 221895

Gene Summary

• Gene Symbol: JAZF1   Gene   UCSC   Ensembl
• Aliases: TIP27, ZNF802
• Gene name: JAZF zinc finger 1
• Alternate names: juxtaposed with another zinc finger protein 1, TAK1-interacting protein 27, juxtaposed with another zinc finger gene 1, zinc finger protein 802,
• Gene location: 7p15.2-p15.1 (110678106: 110637527)     Exons: 25     NC_000002.12
• Gene summary(Entrez): This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode di
• OMIM: 606246

Protein Summary

• Protein general information: Q86VZ6  
  • Name: Juxtaposed with another zinc finger protein 1 (TAK1 interacting protein 27) (Zinc finger protein 802)
  • Length: 243  
  • Mass: 27079
  • Tissue specificity: Highest expression in testis with moderate levels in colon, placenta, prostate and ovary and low levels in brain, spleen, liver and small intestine. {ECO
• Sequence:

  MTGIAAASFFSNTCRFGGCGLHFPTLADLIEHIEDNHIDTDPRVLEKQELQQPTYVALSYINRFMTDAARREQES
  LKKKIQPKLSLTLSSSVSRGNVSTPPRHSSGSLTPPVTPPITPSSSFRSSTPTGSEYDEEEVDYEESDSDESWTT
  ESAISSEAILSSMCMNGGEEKPFACPVPGCKKRYKNVNGIKYHAKNGHRTQIRVRKPFKCRCGKSYKTAQGLRHH
  TINFHPPVSAEIIRKMQQ

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028
  • STRING: ENSP00000283928
• Other Databases: GeneCards:  JAZF1  Malacards:  JAZF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Type 2 diabetes mellitus	KEGG:H00409
Type 2 diabetes mellitus	KEGG:H00409
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq