• Gene id: 5013

Gene Summary

• Gene Symbol: OTX1   Gene   UCSC   Ensembl
• Gene name: orthodenticle homeobox 1
• Alternate names: homeobox protein OTX1, orthodenticle homolog 1,
• Gene location: 2p15 (63050056: 63057830)     Exons: 6     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mouse is required for
• OMIM: 600036

Protein Summary

• Protein general information: P32242  
  • Name: Homeobox protein OTX1 (Orthodenticle homolog 1)
  • Length: 354  
  • Mass: 37,327
• Sequence:

  MMSYLKQPPYGMNGLGLAGPAMDLLHPSVGYPATPRKQRRERTTFTRSQLDVLEALFAKTRYPDIFMREEVALKI
  NLPESRVQVWFKNRRAKCRQQQQSGSGTKSRPAKKKSSPVRESSGSESSGQFTPPAVSSSASSSSSASSSSANPA
  AAAAAGLGGNPVAAASSLSTPAASSIWSPASISPGSAPASVSVPEPLAAPSNTSCMQRSVAAGAATAAASYPMSY
  GQGGSYGQGYPTPSSSYFGGVDCSSYLAPMHSHHHPHQLSPMAPSSMAGHHHHHPHAHHPLSQSSGHHHHHHHHH
  HQGYGGSGLAFNSADCLDYKEPGAAAASSAWKLNFNSPDCLDYKDQASWRFQVL

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR003026  IPR003025   IPR013851  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000282549
• Other Databases: GeneCards:  OTX1  Malacards:  OTX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0022037	metencephalon development	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048852	diencephalon morphogenesis	IEA	biological process
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0022037	metencephalon development	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048852	diencephalon morphogenesis	IEA	biological process
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Cancer	GAD: 19767753
Cancer (prostate)	GAD: 19767753
Neurodegenerative diseases	GAD: 19018235
Genitourinary defects	MIK: 25203062
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Genitourinary defects	MIK: 25203062

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25203062	Genitourinary defects			7 individuals with overlapping deletions in the 2p15 region	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881