• Gene id: 94234

Gene Summary

• Gene Symbol: FOXQ1   Gene   UCSC   Ensembl
• Aliases: HFH1
• Gene name: forkhead box Q1
• Alternate names: forkhead box protein Q1, HFH-1, HNF-3/forkhead-like protein 1, hepatocyte nuclear factor 3 forkhead homolog 1, winged helix/forkhead transcription factor,
• Gene location: 6p25.3 (1312097: 1314757)     Exons: 1     NC_000006.12
• Gene summary(Entrez): FOXQ1 is a member of the FOX gene family, which is characterized by a conserved 110-amino acid DNA-binding motif called the forkhead or winged helix domain. FOX genes are involved in embryonic development, cell cycle regulation, tissue-specific gene expre
• OMIM: 616480

Protein Summary

• Protein general information: Q9C009  
  • Name: Forkhead box protein Q1 (HNF 3/forkhead like protein 1) (HFH 1) (Hepatocyte nuclear factor 3 forkhead homolog 1)
  • Length: 403  
  • Mass: 41526
  • Tissue specificity: Expressed predominantly in the stomach, trachea, bladder and salivary gland. {ECO
• Sequence:

  MKLEVFVPRAAHGDKQGSDLEGAGGSDAPSPLSAAGDDSLGSDGDCAANSPAAGGGARDTQGDGEQSAGGGPGAE
  EAIPAAAAAAVVAEGAEAGAAGPGAGGAGSGEGARSKPYTRRPKPPYSYIALIAMAIRDSAGGRLTLAEINEYLM
  GKFPFFRGSYTGWRNSVRHNLSLNDCFVKVLRDPSRPWGKDNYWMLNPNSEYTFADGVFRRRRKRLSHRAPVPAP
  GLRPEEAPGLPAAPPPAPAAPASPRMRSPARQEERASPAGKFSSSFAIDSILRKPFRSRRLRDTAPGTTLQWGAA
  PCPPLPAFPALLPAAPCRALLPLCAYGAGEPARLGAREAEVPPTAPPLLLAPLPAAAPAKPLRGPAAGGAHLYCP
  LRLPAALQAASVRRPGPHLPYPVETLLA

• Structural information:
  • Interpro: IPR001766  IPR018122  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00657 PS00658 PS50039
  • CDD: cd00059
  • STRING: ENSP00000296839
• Other Databases: GeneCards:  FOXQ1  Malacards:  FOXQ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043524	negative regulation of neuron apoptotic process	IMP	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0031069	hair follicle morphogenesis	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray