• Gene id: 79191

Gene Summary

• Gene Symbol: IRX3   Gene   UCSC   Ensembl
• Aliases: IRX-1, IRXB1
• Gene name: iroquois homeobox 3
• Alternate names: iroquois-class homeodomain protein IRX-3, homeodomain protein IRXB1, iroquois homeobox protein 3, iroquois-class homeodomain protein IRX-1,
• Gene location: 16q12.2 (54286786: 54283303)     Exons: 4     NC_000016.10
• Gene summary(Entrez): IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation
• OMIM: 602130

Protein Summary

• Protein general information: P78415  
  • Name: Iroquois class homeodomain protein IRX 3 (Homeodomain protein IRXB1) (Iroquois homeobox protein 3)
  • Length: 501  
  • Mass: 52119
• Sequence:

  MSFPQLGYQYIRPLYPSERPGAAGGSGGSAGARGGLGAGASELNASGSLSNVLSSVYGAPYAAAAAAAAAQGYGA
  FLPYAAELPIFPQLGAQYELKDSPGVQHPAAAAAFPHPHPAFYPYGQYQFGDPSRPKNATRESTSTLKAWLNEHR
  KNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKMTWAPRSRTDEEGNAYGSEREEEDEEEDEEDGKRE
  LELEEEELGGEEEDTGGEGLADDDEDEEIDLENLDGAATEPELSLAGAARRDGDLGLGPISDSKNSDSEDSSEGL
  EDRPLPVLSLAPAPPPVAVASPSLPSPPVSLDPCAPAPAPASALQKPKIWSLAETATSPDNPRRSPPGAGGSPPG
  AAVAPSALQLSPAAAAAAAHRLVSAPLGKFPAWTNRPFPGPPPGPRLHPLSLLGSAPPHLLGLPGAAGHPAAAAA
  FARPAEPEGGTDRCSALEVEKKLLKTAFQPVPRRPQNHLDAALVLSALSSS

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR008422  IPR003893  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • DIP: 62120
  • STRING: ENSP00000331608
• Other Databases: GeneCards:  IRX3  Malacards:  IRX3

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0030182	neuron differentiation	IBA	biological process
GO:0048468	cell development	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0097009	energy homeostasis	ISS	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0001656	metanephros development	IEA	biological process
GO:0097009	energy homeostasis	IEA	biological process
GO:0072086	specification of loop of Henle identity	IEA	biological process
GO:0072047	proximal/distal pattern formation involved in nephron development	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0007498	mesoderm development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
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:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0030182	neuron differentiation	IBA	biological process
GO:0048468	cell development	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0097009	energy homeostasis	ISS	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0001656	metanephros development	IEA	biological process
GO:0097009	energy homeostasis	IEA	biological process
GO:0072086	specification of loop of Henle identity	IEA	biological process
GO:0072047	proximal/distal pattern formation involved in nephron development	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0007498	mesoderm development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray