Gene
fgd1
- ID
- ZDB-GENE-081104-33
- Name
- FYVE, RhoGEF and PH domain containing 1
- Symbol
- fgd1 Nomenclature History
- Previous Names
-
- si:dkey-242k1.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have guanyl-nucleotide exchange factor activity and metal ion binding activity. Human ortholog(s) of this gene implicated in Aarskog syndrome and non-syndromic X-linked intellectual disability. Orthologous to human FGD1 (FYVE, RhoGEF and PH domain containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| X-linked Aarskog syndrome | Alliance | Aarskog-Scott syndrome | 305400 |
| X-linked Aarskog syndrome | Alliance | Intellectual developmental disorder, X-linked syndromic 16 | 305400 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000219 | Dbl homology (DH) domain |
| Domain | IPR000306 | FYVE zinc finger |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR017455 | Zinc finger, FYVE-related |
| Domain | IPR035939 | FGD1, N-terminal PH domain |
| Domain | IPR035941 | FGD1-4, C-terminal PH domain |
| Family | IPR051092 | FYVE, RhoGEF and PH domain-containing |
| Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| Homologous_superfamily | IPR035899 | Dbl homology (DH) domain superfamily |
Domain Details Per Protein
| Protein | Length | Dbl homology (DH) domain | Dbl homology (DH) domain superfamily | FGD1-4, C-terminal PH domain | FGD1, N-terminal PH domain | FYVE, RhoGEF and PH domain-containing | FYVE zinc finger | PH-like domain superfamily | Pleckstrin homology domain | Zinc finger, FYVE/PHD-type | Zinc finger, FYVE-related | Zinc finger, RING/FYVE/PHD-type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M6Z859
|
947 | |||||||||||
|
UniProtKB:A0A8M6Z282
|
965 | |||||||||||
|
UniProtKB:A0A8N7T6X2
|
995 | |||||||||||
|
UniProtKB:A0A8M6Z0K6
|
977 |
Interactions and Pathways
No data available
Plasmids
No data available