Aliases for OTX1 Gene
External Ids for OTX1 Gene
Previous GeneCards Identifiers for OTX1 Gene
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
GeneCards Summary for OTX1 Gene
OTX1 (Orthodenticle Homeobox 1) is a Protein Coding gene. Diseases associated with OTX1 include Chromosome 2P16.1-P15 Deletion Syndrome and Agnathia-Otocephaly Complex. Among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Signaling pathways regulating pluripotency of stem cells. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is OTX2.
UniProtKB/Swiss-Prot for OTX1 Gene
Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5-TCTAATCCC-3.