SOS1 - SOS Ras/Rac guanine nucleotide exchange factor 1 Gene
Also Known as GF1; HGF; NS4; GGF1; GINGF; SOS-1
Species: Homo sapiens
About SOS1
This gene has 20 transcripts (splice variants), 201 orthologues, 24 paralogues and is associated with 5 phenotypes. Ubiquitous expression in fat (RPKM 10.4), ovary (RPKM 10.2) and 25 other tissues.
Summary
This gene encodes a protein that is a guanine nucleotide exchange factor for Ras proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates Ras proteins. The product of this gene may regulate Ras proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]
SOS1 Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001382394.1 | NP_001369323.1 | son of sevenless homolog 1 isoform 2 |
| NM_001382395.1 | NP_001369324.1 | son of sevenless homolog 1 isoform 3 |
| NM_005633.4 | NP_005624.2 | son of sevenless homolog 1 isoform 1 |
| NM_001382394.1 | NP_001369323.1 | son of sevenless homolog 1 isoform 2 |
| NM_001382395.1 | NP_001369324.1 | son of sevenless homolog 1 isoform 3 |
| NM_005633.4 | NP_005624.2 | son of sevenless homolog 1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables guanyl-nucleotide exchange factor activity |
EXP
EXP: Inferred from Experiment
|
1371879 | GOA |
| enables guanyl-nucleotide exchange factor activity |
IDA
IDA: Inferred from direct assay
|
1371879 | GOA |
| enables molecular condensate scaffold activity |
IDA
IDA: Inferred from direct assay
|
27056844 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
7527391 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in Ras protein signal transduction |
IDA
IDA: Inferred from direct assay
|
23027131 | GOA |
| involved in T cell activation |
IDA
IDA: Inferred from direct assay
|
7737275 | GOA |
| involved in regulation of cell population proliferation |
IDA
IDA: Inferred from direct assay
|
9054499 | GOA |
| involved in regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
23027131 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of GTPase complex |
IPI
IPI: Inferred from physical interaction
|
25695162 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
17515907 | GOA |
SOS1 Protein Structure
Histone: Core histone H2A/H2B/H3/H4 (97 - 169)
RhoGEF: RhoGEF domain (213 - 387)
PH: PH domain (445 - 545)
RasGEF_N: RasGEF N-terminal motif (601 - 717)
RasGEF: RasGEF domain (778 - 963)
- 0
- 300
- 600
- 900
- 1200
- 1333 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
son of sevenless homolog 1 |
|
SOS1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SOS1 | Q07889 | NEB | Homo sapiens | P20929 | 12482578 | |
|
Intra
|
SOS1 | Q07889 | NEB | Homo sapiens | P20929 | 12482578 | |
|
Intra
|
SOS1 | Q07889 | NEB | Homo sapiens | P20929 | 12482578 | |
|
Intra
|
SOS1 | Q07889 | EGFR | Homo sapiens | P00533 | 26005835 | |
|
Intra
|
SOS1 | Q07889 | HCK | Homo sapiens | P08631 | 23397142 | |
|
Intra
|
SOS1 | Q07889 | HCK | Homo sapiens | P08631 | 12029088 | |
|
Intra
|
SOS1 | Q07889 | HCK | Homo sapiens | P08631 | 17141806 | |
|
Intra
|
SOS1 | Q07889 | HRAS | Homo sapiens | P01112 | 12628188 | |
|
Intra
|
SOS1 | Q07889 | HRAS | Homo sapiens | P01112 | 20133692 | |
|
Intra
|
SOS1 | Q07889 | HRAS | Homo sapiens | P01112 | 17084389 | |
|
Intra
|
SOS1 | Q07889 | HRAS | Homo sapiens | P01112 | 18454158 | |
|
Intra
|
SOS1 | Q07889 | COPS3 | Homo sapiens | Q9UNS2 | 30631038 | |
|
Intra
|
SOS1 | Q07889 | GRB2 | Homo sapiens | P62993 | 21988832 | |
|
Intra
|
SOS1 | Q07889 | GRB2 | Homo sapiens | P62993 | 16520382 | |
|
Intra
|
SOS1 | Q07889 | GRB2 | Homo sapiens | P62993 | 19323566 | |
|
Intra
|
SOS1 | Q07889 | GRB2 | Homo sapiens | P62993 | 14679214 | |
|
Intra
|
SOS1 | Q07889 | q5tcz1-2 | Homo sapiens | Q5TCZ1-2 | 19464300 | |
|
Intra
|
SOS1 | Q07889 | q5tcz1-2 | Homo sapiens | Q5TCZ1-2 | 19464300 | |
|
Intra
|
SOS1 | Q07889 | PLCG1 | Homo sapiens | P19174 | 17474147 | |
|
Intra
|
SOS1 | Q07889 | PIK3R1 | Homo sapiens | P27986 | 17474147 | |
|
Intra
|
SOS1 | Q07889 | PIK3R1 | Homo sapiens | P27986 | 25241761 | |
|
Intra
|
SOS1 | Q07889 | CRK | Homo sapiens | P46108 | 25241761 | |
|
Intra
|
SOS1 | Q07889 | CRK | Homo sapiens | P46108 | 17474147 |
SOS1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83568 | SOS1 Antibody (YA3313) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Noonan Syndrome 4 |
|
|
| Fibromatosis, Gingival, 1 |
|
|
| Noonan Syndrome 1 |
|
|
| Ptosis |
|
|
| Pulmonic Stenosis |
|
|
| Gingival Fibromatosis |
|
|
| Noonan Syndrome 3 |
|
|
| Nuchal Bleb, Familial |
|
|
| Aortic Valve Disease 1 |
|
|
| Rasopathy |
|
|
| Pseudo-Turner Syndrome |
|
|
| Noonan Syndrome And Noonan-Related Syndrome |
|
|
| Fibromatosis |
|
|
| Villonodular Synovitis |
|
|
| Costello Syndrome |
|
|
| 46,Xy Partial Gonadal Dysgenesis |
|
|
| Cardiofaciocutaneous Syndrome 1 |
|
|
| Juvenile Myelomonocytic Leukemia |
|
|
| Skin Granular Cell Tumor |
|
|
| Keratosis Pilaris Atrophicans Faciei |
|
|
| Gingival Overgrowth |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Lung Cancer |
|
|
| Pulmonary Valve Disease |
|
|
| Lung Cancer Susceptibility 3 |
|
|
| Pulmonary Valve Stenosis |
|
|
| Noonan Syndrome With Multiple Lentigines |
|
|
| Neuroma |
|
|
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
|
| Pilocytic Astrocytoma |
|
|
| Neurofibromatosis-Noonan Syndrome |
|
|
| Pigmented Villonodular Synovitis |
|
|
| Gingival Disease |
|
|
| Heart Disease |
|
|
| Cystic Lymphangioma |
|
|
| Metachondromatosis |
|
|
| Colorectal Cancer |
|
|
| Gingival Hypertrophy |
|
|
| Myelodysplastic/Myeloproliferative Neoplasm |
|
|
| Atrial Heart Septal Defect |
|
|
| Melanoma |
|
|
| Hepatocellular Carcinoma |
|
|
| Heart Septal Defect |
|
|
| Rhabdomyosarcoma |
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
|
| Breast Cancer |
|
|
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
|
| Dilated Cardiomyopathy |
|
|
| Neurofibromatosis, Type I |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Polyhydramnios |
|
|
| Disorder Of Sexual Development |
|
|
| Patent Foramen Ovale |
|
|
| Chromosome 1p36 Deletion Syndrome |
|
|
| Tetralogy Of Fallot |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | SOS1 | MGD | MGI:98354 |
| Felis catus | SOS1 | VGNC | VGNC:65576 |
| Rattus norvegicus | SOS1 | RGD | RGD:1310949 |
| Canis familiaris | SOS1 | VGNC | VGNC:46665 |
| Macaca mulatta | SOS1 | VGNC | VGNC:77837 |
| Bos taurus | SOS1 | VGNC | VGNC:35134 |
| Others | SOS1 | NCBI |