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 enable guanyl-nucleotide exchange factor activity and metal ion binding activity. Predicted to be involved in cytoskeleton organization and filopodium assembly. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in X-linked 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