• Gene id: 4150

Gene Summary

• Gene Symbol: MAZ   Gene   UCSC   Ensembl
• Aliases: PUR1, Pur-1, SAF-1, SAF-2, SAF-3, ZF87, ZNF801, Zif87
• Gene name: MYC associated zinc finger protein
• Alternate names: myc-associated zinc finger protein, MAZI, purine-binding transcription factor, serum amyloid A activating factor 1, serum amyloid A activating factor 2, transcription factor Zif87, zinc finger protein 801, zinc-finger protein, 87 kilodaltons,
• Gene location: 16p11.2 (29806080: 29811170)     Exons: 7     NC_000016.10
• OMIM: 600999

Protein Summary

• Protein general information: P56270  
  • Name: Myc associated zinc finger protein (MAZI) (Pur 1) (Purine binding transcription factor) (Serum amyloid A activating factor 1) (SAF 1) (Transcription factor Zif87) (ZF87) (Zinc finger protein 801)
  • Length: 477  
  • Mass: 48608
  • Tissue specificity: Present in kidney, liver and brain. In the brain, highest levels are found in motor cortex and midfrontal cortex (at protein level). {ECO
• Sequence:

  MFPVFPCTLLAPPFPVLGLDSRGVGGLMNSFPPPQGHAQNPLQVGAELQSRFFASQGCAQSPFQAAPAPPPTPQA
  PAAEPLQVDLLPVLAAAQESAAAAAAAAAAAAAVAAAPPAPAAASTVDTAALKQPPAPPPPPPPVSAPAAEAAPP
  ASAATIAAAAATAVVAPTSTVAVAPVASALEKKTKSKGPYICALCAKEFKNGYNLRRHEAIHTGAKAGRVPSGAM
  KMPTMVPLSLLSVPQLSGAGGGGGEAGAGGGAAAVAAGGVVTTTASGKRIRKNHACEMCGKAFRDVYHLNRHKLS
  HSDEKPYQCPVCQQRFKRKDRMSYHVRSHDGAVHKPYNCSHCGKSFSRPDHLNSHVRQVHSTERPFKCEKCEAAF
  ATKDRLRAHTVRHEEKVPCHVCGKMLSSAYISDHMKVHSQGPHHVCELCNKGTGEVCPMAAAAAAAAAAAAAAVA
  APPTAVGSLSGAEGVPVSSQPLPSQPW

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000219782
• Other Databases: GeneCards:  MAZ  Malacards:  MAZ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:2001234	negative regulation of apoptotic signaling pathway	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0006369	termination of RNA polymerase II transcription	IDA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
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)