Gene
gbf1
- ID
- ZDB-GENE-081107-54
- Name
- golgi brefeldin A resistant guanine nucleotide exchange factor 1
- Symbol
- gbf1 Nomenclature History
- Previous Names
-
- sb:eu951
- si:dkey-183c23.1
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to act upstream of or within regulation of ARF protein signal transduction. Predicted to be located in Golgi apparatus. Is expressed in head. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant intermediate A. Orthologous to human GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu951 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Chen et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease dominant intermediate A | Alliance | Charcot-Marie-Tooth disease, axonal, type 2GG | 606483 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Armadillo-type fold | Mon2/Sec7/BIG1-like, HUS domain | Sec7, C-terminal domain superfamily | Sec7 domain | Sec7 domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3BEH1
|
1846 | |||||
|
UniProtKB:A0A286Y9X1
|
1862 | |||||
|
UniProtKB:A0A8M3AYV9
|
1850 | |||||
|
UniProtKB:A0A8M3B513
|
1858 |
Interactions and Pathways
No data available
Plasmids
No data available