Gene
sos1
- ID
- ZDB-GENE-070209-128
- Name
- son of sevenless homolog 1 (Drosophila)
- Symbol
- sos1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable DNA binding activity; guanyl-nucleotide exchange factor activity; and protein heterodimerization activity. Predicted to act upstream of or within small GTPase mediated signal transduction. Predicted to be part of nucleosome. Human ortholog(s) of this gene implicated in Noonan syndrome; Noonan syndrome 4; atrial heart septal defect; gingival fibromatosis; and pulmonary valve stenosis. Orthologous to human SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 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 |
|---|---|---|---|
| gingival fibromatosis | Alliance | Fibromatosis, gingival, 1 | 135300 |
| Noonan syndrome 4 | Alliance | Noonan syndrome 4 | 610733 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019804 | Ras guanine-nucleotide exchange factor, conserved site |
| Domain | IPR001895 | Ras guanine-nucleotide exchange factors catalytic domain |
| Family | IPR002119 | Histone H2A |
| Family | IPR008937 | Ras-like guanine nucleotide exchange factor |
| Homologous_superfamily | IPR009072 | Histone-fold |
| Homologous_superfamily | IPR023578 | Ras guanine nucleotide exchange factor domain superfamily |
| Homologous_superfamily | IPR036964 | Ras guanine-nucleotide exchange factor, catalytic domain superfamily |
Domain Details Per Protein
| Protein | Length | Histone-fold | Histone H2A | Ras guanine-nucleotide exchange factor, catalytic domain superfamily | Ras guanine-nucleotide exchange factor, conserved site | Ras guanine nucleotide exchange factor domain superfamily | Ras guanine-nucleotide exchange factors catalytic domain | Ras-like guanine nucleotide exchange factor |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A2RRV5
|
713 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sos1-201
(1)
|
Ensembl | 2,142 nt | ||
| mRNA |
sos1-202
(1)
|
Ensembl | 454 nt | ||
| mRNA |
sos1-204
(1)
|
Ensembl | 3,647 nt | ||
| mRNA |
sos1-205
(1)
|
Ensembl | 810 nt | ||
| mRNA |
sos1-206
(1)
|
Ensembl | 332 nt | ||
| mRNA |
sos1-207
(1)
|
Ensembl | 849 nt | ||
| ncRNA |
sos1-005
(1)
|
Ensembl | 505 nt |
Interactions and Pathways
No data available
Plasmids
No data available