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 DAG and IP3 signaling 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.