Transcription factor Otx1 (IPR003026)

Short name: Otx1_TF

Overlapping homologous superfamilies


Family relationships


Otx proteins constitute a class of vertebrate homeodomain-containing transcription factors that have been shown to be essential for anterior head formation, including brain morphogenesis. They are orthologous to the product of the Drosophila head gap gene, orthodenticle (Otd), and appear to play similar roles in both, since the developmental abnormalities caused by disruption of these transcription factors in one, can be recovered by substitution of the factor(s) from the other. Such studies have provided strong evidence that there exists a conserved genetic programme for insect and mammalian brain development, which presumably arose in a more primitive common ancestor [PMID: 10199636, PMID: 10440864].

Two vertebrate orthodenticle-related transcription factors have been indentified, Otx1 and Otx2, which have sizes of 355 and 289 residues respectively. They contain a bicoid-like homeodomain, which features a conserved lysine residue at position 9 of the DNA recognition helix, which is thought to confer high-affinity binding to TAATCC/T elements on DNA [PMID: 10375352]. Otd-like transcription factors have also been found in zebrafish and certain lamprey species. Studies of mice lacking Otx1 (due to targeted gene disruption) have shed light on its role in development, such mice showing impaired corticogenesis and sense organ development. Phenotypic abnormalities noted in the cerebral cortices include reduced cell proliferation and total cell number, together with disruption of the formation of the normally well-ordered cortical cell layers, which are characteristic of these structures. Abnormalities are also observed in the eye and inner ear.

GO terms

Biological Process

GO:0007275 multicellular organism development

Molecular Function

GO:0003700 DNA-binding transcription factor activity

Cellular Component

GO:0005634 nucleus

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.