Homo sapiens Gene: OTX1
Summary
InnateDB Gene IDBG-53614.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OTX1
Gene Name orthodenticle homeobox 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000115507
Encoded Proteins
orthodenticle homeobox 1
orthodenticle homeobox 1
orthodenticle homeobox 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 proper brain and sensory organ development and can cause epilepsy. Alternate splicing results in two transcript variants that encoded the same protein.[provided by RefSeq, Dec 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:63050057-63057836
Strand Forward strand
Band p15
Transcripts
ENST00000282549 ENSP00000282549
ENST00000366671 ENSP00000355631
ENST00000405984 ENSP00000385782
ENST00000484066
ENST00000477348
ENST00000476383
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
Biological Process
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organismal development
GO:0009952 anterior/posterior pattern specification
GO:0022037 metencephalon development
GO:0030900 forebrain development
GO:0030901 midbrain development
GO:0042472 inner ear morphogenesis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048852 diencephalon morphogenesis
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt P32242
TrEMBL B4DM62 Q9P2R2
UniProt Splice Variant
Entrez Gene 5013
UniGene Hs.445340 Hs.734360
RefSeq NM_014562 NM_001199770 XM_006712025
HUGO HGNC:8521
OMIM 600036
CCDS CCDS1873
HPRD 08964
IMGT
EMBL AB037501 AC009501 AK095680 AK297308 BC007621 CH471053
GenPept AAH07621 AAY24357 BAA90421 BAG53106 BAG59774 EAW99967
RNA Seq Atlas 5013