FGD1 - FYVE, RhoGEF and PH domain containing 1 Gene
Also Known as AAS; FGDY; MRXS16; ZFYVE3
Species: Homo sapiens
About FGD1
This gene has 1 transcript (splice variant), 197 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in endometrium (RPKM 4.2), brain (RPKM 3.6) and 25 other tissues.
Summary
This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]
FGD1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_004463.3 | NP_004454.2 | FYVE, RhoGEF and PH domain-containing protein 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables guanyl-nucleotide exchange factor activity |
IDA
IDA: Inferred from direct assay
|
8969170 | GOA |
| enables small GTPase binding |
IDA
IDA: Inferred from direct assay
|
8969170 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in actin cytoskeleton organization |
IDA
IDA: Inferred from direct assay
|
8969170 | GOA |
| involved in filopodium assembly |
IDA
IDA: Inferred from direct assay
|
8969170 | GOA |
| involved in regulation of GTPase activity |
IDA
IDA: Inferred from direct assay
|
8969170 | GOA |
FGD1 Protein Structure
RhoGEF: RhoGEF domain (377 - 559)
PH: PH domain (591 - 686)
FYVE: FYVE zinc finger (729 - 789)
PH: PH domain (824 - 916)
- 0
- 200
- 400
- 600
- 800
- 961 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
FYVE, RhoGEF and PH domain-containing protein 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Aarskog-Scott Syndrome |
|
|
| Scott Syndrome |
|
|
| Crane-Heise Syndrome |
|
|
| Unilateral Focal Polymicrogyria |
|
|
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
|
| Brachydactyly |
|
|
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
|
| Diamond-Blackfan Anemia 3 |
|
|
| Familial Glucocorticoid Deficiency |
|
|
| Syphilitic Meningitis |
|
|
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
|
| Robinow Syndrome |
|
|
| Tetanus Neonatorum |
|
|
| Noonan Syndrome 1 |
|
|
| Rasopathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | FGD1 | VGNC | VGNC:28964 |
| Canis familiaris | FGD1 | VGNC | VGNC:40833 |
| Mus musculus | FGD1 | MGD | MGI:104566 |
| Felis catus | FGD1 | VGNC | VGNC:62239 |
| Rattus norvegicus | FGD1 | RGD | RGD:1565188 |
| Macaca mulatta | FGD1 | VGNC | VGNC:72642 |
| Others | FGD1 | NCBI |