Gene
hesx1
- ID
- ZDB-GENE-990415-130
- Name
- HESX homeobox 1
- Symbol
- hesx1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Is predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in pituitary gland development and regulation of transcription by RNA polymerase II. Acts upstream of or within forebrain development. Predicted to be located in early endosome membrane; phagocytic vesicle; and ruffle. Is expressed in anterior presumptive neural plate; neural keel; neural plate; and telencephalon. Human ortholog(s) of this gene implicated in septooptic dysplasia. Orthologous to human HESX1 (HESX homeobox 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 27 figures from 19 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu608 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Young et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| septooptic dysplasia | Alliance | Growth hormone deficiency with pituitary anomalies | 182230 |
| septooptic dysplasia | Alliance | Pituitary hormone deficiency, combined, 5 | 182230 |
| septooptic dysplasia | Alliance | Septooptic dysplasia | 182230 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homeobox, conserved site | Homeobox domain | Homeobox expressed in ES cells 1 | Homeobox-like domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:P79738
|
161 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available