• Gene id: 26584

Gene Summary

• Gene Symbol: DUX1   Gene   UCSC   Ensembl
• Gene name: double homeobox 1
• Alternate names: double homeobox protein 1,
• Gene summary(Entrez): The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX1, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 60600
• OMIM: 611441

Protein Summary

• Protein general information: O43812  
  • Name: Double homeobox protein 1
  • Length: 170  
  • Mass: 19347
  • Tissue specificity: Expressed in rhabdomyosarcoma TE671 cells as well as in several other normal and cancer cells. {ECO
• Sequence:

  MALLTALDDTLPEEAQGPGRRMILLSTPSQSDALRACFERNLYPGIATKEELAQGIDIPEPRVQIWFQNERSCQL
  RQHRRQSRPWPGRRDPQKGRRKRTAITGSQTALLLRAFEKDRFPGIAAREELARETGLPESRIQIWFQNRRARHR
  GQSGRAPTQASIRCNAAPIG

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR000047  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
• Other Databases: GeneCards:  DUX1  Malacards:  DUX1

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:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component

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)