• Gene id: 7593

Gene Summary

• Gene Symbol: MZF1   Gene   UCSC   Ensembl
• Aliases: MZF-1, MZF1B, ZFP98, ZNF42, ZSCAN6
• Gene name: myeloid zinc finger 1
• Alternate names: myeloid zinc finger 1, zinc finger and SCAN domain-containing protein 6, zinc finger protein 42 (myeloid-specific retinoic acid-responsive),
• Gene location: 19q13.43 (58574477: 58561916)     Exons: 7     NC_000019.10
• OMIM: 194550

Protein Summary

• Protein general information: P28698  
  • Name: Myeloid zinc finger 1 (MZF 1) (Zinc finger and SCAN domain containing protein 6) (Zinc finger protein 42)
  • Length: 734  
  • Mass: 82055
  • Tissue specificity: Preferentially expressed in differentiating myeloid cells. Detected in osteoblasts. {ECO
• Sequence:

  MRPAVLGSPDRAPPEDEGPVMVKLEDSEEEGEAALWDPGPEAARLRFRCFRYEEATGPQEALAQLRELCRQWLRP
  EVRSKEQMLELLVLEQFLGALPPEIQARVQGQRPGSPEEAAALVDGLRREPGGPRRWVTVQVQGQEVLSEKMEPS
  SFQPLPETEPPTPEPGPKTPPRTMQESPLGLQVKEESEVTEDSDFLESGPLAATQESVPTLLPEEAQRCGTVLDQ
  IFPHSKTGPEGPSWREHPRALWHEEAGGIFSPGFALQLGSISAGPGSVSPHLHVPWDLGMAGLSGQIQSPSREGG
  FAHALLLPSDLRSEQDPTDEDPCRGVGPALITTRWRSPRGRSRGRPSTGGGVVRGGRCDVCGKVFSQRSNLLRHQ
  KIHTGERPFVCSECGRSFSRSSHLLRHQLTHTEERPFVCGDCGQGFVRSARLEEHRRVHTGEQPFRCAECGQSFR
  QRSNLLQHQRIHGDPPGPGAKPPAPPGAPEPPGPFPCSECRESFARRAVLLEHQAVHTGDKSFGCVECGERFGRR
  SVLLQHRRVHSGERPFACAECGQSFRQRSNLTQHRRIHTGERPFACAECGKAFRQRPTLTQHLRVHTGEKPFACP
  ECGQRFSQRLKLTRHQRTHTGEKPYHCGECGLGFTQVSRLTEHQRIHTGERPFACPECGQSFRQHANLTQHRRIH
  TGERPYACPECGKAFRQRPTLTQHLRTHRREKPFACQDCGRRFHQSTKLIQHQRVHSAE

• Structural information:
  • Protein Domains: (44..12-)
    (/note="SCAN-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00187"-)
  • Interpro: IPR003309  IPR038269  IPR036236  IPR013087  
  • Prosite: PS50804 PS00028 PS50157
  • CDD: cd07936
  • PDB: 2FI2
  • PDBsum: 2FI2
  • STRING: ENSP00000215057
• Other Databases: GeneCards:  MZF1  Malacards:  MZF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq