OTX1 Gene: Orthodenticle Homeobox 1
Key regulator of brain, sensory organ, and pituitary development
Gene Information Card
| Symbol | OTX1 |
|---|---|
| Full Name | Orthodenticle Homeobox 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p15 |
| NCBI Gene ID | 5013 ncbi.nlm.nih.gov/gene/5013 |
| Ensembl ID | ENSG00000115507 |
| UniProt ID | P32242 |
| OMIM ID | 600036 |
| HGNC ID | 8521 |
| Aliases | OTX1, orthodenticle homolog 1, homeobox protein OTX1 |
Description
OTX1 (orthodenticle homeobox 1) is a protein-coding gene that encodes a transcription factor containing a bicoid-like homeodomain. It plays a critical role in the development of the brain, sensory organs (including the eye and ear), and the pituitary gland. OTX1 is involved in regional patterning of the anterior neural plate and is essential for proper formation of the forebrain, midbrain, and cerebellum. The gene is also implicated in certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pituitary adenoma | OTX1 overexpression may contribute to tumorigenesis via dysregulation of pituitary cell differentiation | PMID: 23455423 |
| Medulloblastoma | OTX1 expression is associated with the sonic hedgehog subgroup and may promote tumor growth | PMID: 20037588 |
| Retinal degeneration | OTX1 mutations can disrupt retinal development and photoreceptor function | PMID: 11734556 |
| Anophthalmia/microphthalmia | Loss-of-function variants in OTX1 are linked to ocular developmental anomalies | PMID: 24668668 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Pituitary | 8.3 | Medium |
| Retina | 6.1 | Low |
| Cerebellum | 10.2 | Medium |
| Testis | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.8 | Neuronal model |
| U-87 MG (glioblastoma) | 9.4 | Brain tumor line |
| HEK293 (embryonic kidney) | 3.2 | Low expression |
| MCF7 (breast cancer) | 1.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.256C>T (p.Arg86Trp) | Missense | Rare | Alters homeodomain DNA binding |
| c.433delC (p.Leu145Trpfs*12) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the homeodomain lead to loss of transcriptional activity.
Gain of Function (GOF)
Not well documented; some missense variants may alter target gene specificity but evidence is limited.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in OTX1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Developmental Biology (Gene Ontology)
• Patterning of the anterior neural plate
• Retinoic acid signaling pathway (indirect)
Protein Summary
The OTX1 protein is a 354-amino acid transcription factor with a conserved bicoid-like homeodomain that binds DNA sequences containing the core motif TAATCC. It localizes to the nucleus and regulates expression of genes involved in brain regionalization, sensory organ development, and pituitary cell specification. OTX1 interacts with other transcription factors such as PAX6 and OTX2 to coordinate anterior-posterior patterning. Post-translational modifications include phosphorylation, which may modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OTX1 Knockout HEK293 Cell Line | EDJ-KQ5389 | Human | 5013 | Details Get a Quote |
| OTX1 Knockout A-549 Cell Line | EDJ-KQ28523 | Human | 5013 | Details Get a Quote |
| OTX1 Knockout HCT 116 Cell Line | EDJ-KQ28524 | Human | 5013 | Details Get a Quote |
| OTX1 Knockout HeLa Cell Line | EDJ-KQ28525 | Human | 5013 | Details Get a Quote |
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