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 and peptidase activity. Predicted to act upstream of or within cell-cell signaling; intein-mediated protein splicing; and protein autoprocessing. Predicted to be located in extracellular space and plasma membrane. Is expressed in testis. Human ortholog(s) of this gene implicated in 46,XY sex reversal 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 sex reversal | 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 | 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
|
447 | |||||||||
UniProtKB:P79729
|
88 | |||||||||
UniProtKB:Q4PLX3
|
447 |
Interactions and Pathways
Plasmids
No data available