SYDE1 - synapse defective Rho GTPase homolog 1 Gene
Also Known as 7h3; SYD1
Species: Homo sapiens
About SYDE1
This gene has 5 transcripts (splice variants), 188 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 9.3), placenta (RPKM 9.2) and 23 other tissues.
Summary
The protein encoded by this gene is a Rho GTPase-activating protein highly expressed in placenta. The encoded protein is involved in cytoskeletal remodeling and trophoblast cell migration. Decreased expression of this gene has been associated with intrauterine growth restriction (IUGR). [provided by RefSeq, Feb 2017]
SYDE1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001300910.2 | NP_001287839.1 | rho GTPase-activating protein SYDE1 isoform 2 |
| NM_033025.6 | NP_149014.3 | rho GTPase-activating protein SYDE1 isoform 1 |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables GTPase activator activity |
IDA
IDA: Inferred from direct assay
|
27917469 | GOA |
| enables GTPase activator activity |
IMP
IMP: Inferred from mutant phenotype
|
27917469 | GOA |
| enables GTPase regulator activity |
IDA
IDA: Inferred from direct assay
|
27917469 | GOA |
| enables GTPase regulator activity |
IMP
IMP: Inferred from mutant phenotype
|
27917469 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| acts upstream of or within actin cytoskeleton organization |
IDA
IDA: Inferred from direct assay
|
27917469 | GOA |
| acts upstream of or within cell migration |
IDA
IDA: Inferred from direct assay
|
27917469 | GOA |
| acts upstream of or within cell migration |
IMP
IMP: Inferred from mutant phenotype
|
27917469 | GOA |
| involved in positive regulation of trophoblast cell migration |
IMP
IMP: Inferred from mutant phenotype
|
27917469 | GOA |
| involved in regulation of cytoskeleton organization |
IMP
IMP: Inferred from mutant phenotype
|
27917469 | GOA |
SYDE1 Protein Structure
RhoGAP: RhoGAP domain (414 - 566)
- 0
- 200
- 400
- 600
- 735 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
rho GTPase-activating protein SYDE1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Autosomal Dominant Wolfram Syndrome |
|