Gene
dhh
- ID
- ZDB-GENE-990714-5
- Name
- desert hedgehog signaling molecule
- Symbol
- dhh Nomenclature History
- Previous Names
-
- sb:eu600
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable metal ion binding activity; peptidase activity; and transferase activity. Predicted to be involved in system development. Predicted to act upstream of or within cell-cell signaling; intein-mediated protein splicing; and protein autoprocessing. Predicted to be located in several cellular components, including Golgi membrane; endoplasmic reticulum membrane; and extracellular region. Is expressed in testis. Human ortholog(s) of this gene implicated in 46,XY complete gonadal dysgenesis; 46,XY gonadal dysgenesis with minifascicular neuropathy; and 46,XY sex reversal 7. Orthologous to human DHH (desert hedgehog signaling molecule).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu600 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| 46,XY gonadal dysgenesis with minifascicular neuropathy | Alliance | 46XY gonadal dysgenesis with minifascicular neuropathy | 607080 |
| 46,XY sex reversal 7 | Alliance | 46XY sex reversal 7 | 233420 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000320 | Hedgehog, N-terminal signalling domain |
| Domain | IPR001767 | Hedgehog protein, Hint domain |
| Domain | IPR003586 | Hint domain C-terminal |
| Domain | IPR003587 | Hint domain N-terminal |
| Family | IPR001657 | Hedgehog protein |
| Family | IPR050387 | Hedgehog Signaling |
| Homologous_superfamily | IPR009045 | Hedgehog signalling/DD-peptidase zinc-binding domain superfamily |
| Homologous_superfamily | IPR036844 | Hint domain superfamily |
| PTM | IPR006141 | Intein N-terminal splicing region |
Domain Details Per Protein
| Protein | Additional Resources | Length | Hedgehog, N-terminal signalling domain | Hedgehog protein | Hedgehog protein, Hint domain | Hedgehog Signaling | Hedgehog signalling/DD-peptidase zinc-binding domain superfamily | Hint domain C-terminal | Hint domain N-terminal | Hint domain superfamily | Intein N-terminal splicing region |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F6NTL6 | InterPro | 447 | |||||||||
| UniProtKB:P79729 | InterPro | 88 | |||||||||
| UniProtKB:Q4PLX3 | InterPro | 447 |
Interactions and Pathways
Plasmids
No data available