Gene
her1
- ID
- ZDB-GENE-980526-125
- Name
- hairy-related 1
- Symbol
- her1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Exhibits protein heterodimerization activity. Involved in negative regulation of transcription, DNA-templated and somite specification. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in spondylocostal dysostosis. Is expressed in several structures, including germ ring; margin; mesoderm; presumptive mesoderm; and tail bud. Orthologous to human HES7 (hes family bHLH transcription factor 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 123 figures from 79 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu148 (7 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Choorapoikayil et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| spondylocostal dysostosis 4 | Alliance | Spondylocostal dysostosis 4, autosomal recessive | 613686 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Hairy and Enhancer of Split/HEY-related | Helix-loop-helix DNA-binding domain superfamily | Myc-type, basic helix-loop-helix (bHLH) domain | Orange domain |
|---|---|---|---|---|---|
|
UniProtKB:Q90463
|
328 |
Interactions and Pathways
No data available
Plasmids
No data available