• Gene id: 5309

Gene Summary

• Gene Symbol: PITX3   Gene   UCSC   Ensembl
• Aliases: ASGD1, ASMD, ASOD, CTPP4, CTRCT11, PTX3
• Gene name: paired like homeodomain 3
• Alternate names: pituitary homeobox 3, homeobox protein PITX3,
• Gene location: 10q24.32 (102241511: 102230188)     Exons: 4     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this ge
• OMIM: 611292

Protein Summary

• Protein general information: O75364  
  • Name: Pituitary homeobox 3 (Homeobox protein PITX3) (Paired like homeodomain transcription factor 3)
  • Length: 302  
  • Mass: 31832
  • Tissue specificity: Highly expressed in developing eye lens.
• Sequence:

  MEFGLLSEAEARSPALSLSDAGTPHPQLPEHGCKGQEHSDSEKASASLPGGSPEDGSLKKKQRRQRTHFTSQQLQ
  ELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERSQQAELCKGSFAAPLGGLVPPYEEVYPG
  YSYGNWPPKALAPPLAAKTFPFAFNSVNVGPLASQPVFSPPSSIAASMVPSAAAAPGTVPGPGALQGLGGGPPGL
  APAAVSSGAVSCPYASAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHASFSYPAVHGPPPAANLSPCQYAVER
  PV

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR016233  IPR003654  
  • Prosite: PS00027 PS50071 PS50803
  • CDD: cd00086
  • STRING: ENSP00000359019
• Other Databases: GeneCards:  PITX3  Malacards:  PITX3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071542	dopaminergic neuron differentiation	TAS	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:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0001085	RNA polymerase II transcription factor binding	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0002088	lens development in camera-type eye	ISS	biological process
GO:0071542	dopaminergic neuron differentiation	ISS	biological process
GO:0030901	midbrain development	ISS	biological process
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0002089	lens morphogenesis in camera-type eye	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
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:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0070306	lens fiber cell differentiation	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0007568	aging	IEA	biological process
GO:0043278	response to morphine	IEA	biological process
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:1904313	response to methamphetamine hydrochloride	IEA	biological process
GO:1990792	cellular response to glial cell derived neurotrophic factor	IEA	biological process
GO:0002089	lens morphogenesis in camera-type eye	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0071542	dopaminergic neuron differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0014014	negative regulation of gliogenesis	IEA	biological process
GO:0035902	response to immobilization stress	IEA	biological process
GO:0042220	response to cocaine	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:1904935	positive regulation of cell proliferation in midbrain	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Anterior segment dysgenesis	KEGG:H01159
Cataract	KEGG:H01202
Anterior segment dysgenesis	KEGG:H01159
Anterior segment dysgenesis	PMID:18989383
Cataract 9 multiple types	PMID:9620774
Cataract	PMID:15665340
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881