Gene
arfgef1
- ID
- ZDB-GENE-030131-108
- Name
- ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)
- Symbol
- arfgef1 Nomenclature History
- Previous Names
-
- hm:zeh1651
- im:7138204
- wu:fj64h08
- zeh1651
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to act upstream of or within protein transport and regulation of ARF protein signal transduction. Predicted to be located in Golgi apparatus and perinuclear region of cytoplasm. Is expressed in brain. Orthologous to human ARFGEF1 (ADP ribosylation factor guanine nucleotide exchange factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
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 |
|---|---|---|---|
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 619964 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000904 | Sec7 domain |
| Domain | IPR015403 | Mon2/Sec7/BIG1-like, HDS |
| Domain | IPR032629 | Mon2/Sec7/BIG1-like, dimerisation and cyclophilin-binding domain |
| Domain | IPR032691 | Mon2/Sec7/BIG1-like, HUS domain |
| Domain | IPR046455 | Sec7/BIG1-like, C-terminal domain |
| Homologous_superfamily | IPR011989 | Armadillo-like helical |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
| Homologous_superfamily | IPR023394 | Sec7, C-terminal domain superfamily |
| Homologous_superfamily | IPR035999 | Sec7 domain superfamily |
Domain Details Per Protein
| Protein | Length | Armadillo-like helical | Armadillo-type fold | Mon2/Sec7/BIG1-like, dimerisation and cyclophilin-binding domain | Mon2/Sec7/BIG1-like, HDS | Mon2/Sec7/BIG1-like, HUS domain | Sec7/BIG1-like, C-terminal domain | Sec7, C-terminal domain superfamily | Sec7 domain | Sec7 domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AZ36
|
1870 | |||||||||
|
UniProtKB:A0A8M3AP80
|
1846 | |||||||||
|
UniProtKB:E7FGL2
|
1849 | |||||||||
|
UniProtKB:A0A8M3B6N5
|
1852 | |||||||||
|
UniProtKB:A0A8M3ANJ3
|
1864 | |||||||||
|
UniProtKB:A0A2R8Q904
|
1867 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
arfgef1-201
(1)
|
Ensembl | 7,122 nt | ||
| mRNA |
arfgef1-202
(1)
|
Ensembl | 807 nt | ||
| mRNA |
arfgef1-203
(1)
|
Ensembl | 5,604 nt |
Interactions and Pathways
No data available
Plasmids
No data available