ARHGAP26 - Rho GTPase activating protein 26 Gene
Also Known as GRAF; GRAF1; OPHN1L; OPHN1L1
生物種: Homo sapiens
About ARHGAP26
This gene has 23 transcripts (splice variants), 210 orthologues, 3 paralogues and is associated with 76 phenotypes. Ubiquitous expression in brain (RPKM 7.0), gall bladder (RPKM 4.5) and 24 other tissues.
Summary
Interaction of a cell with the extracellular matrix triggers Integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
ARHGAP26 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001135608.3 | NP_001129080.1 | rho GTPase-activating protein 26 isoform b |
| NM_001349547.2 | NP_001336476.1 | rho GTPase-activating protein 26 isoform c |
| NM_015071.6 | NP_055886.1 | rho GTPase-activating protein 26 isoform a |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables phospholipid binding |
IDA
IDA: Inferred from direct assay
|
18954304 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11432776 | GOA |
| enables protein-macromolecule adaptor activity |
IDA
IDA: Inferred from direct assay
|
38081847 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in mitophagy |
IDA
IDA: Inferred from direct assay
|
38081847 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
32344433 | GOA |
| located in endosome membrane |
IDA
IDA: Inferred from direct assay
|
32344433 | GOA |
| is active in mitochondrion |
IDA
IDA: Inferred from direct assay
|
38081847 | GOA |
ARHGAP26 Protein Structure
IMD: IRSp53/MIM homology domain (34 - 217)
RhoGAP: RhoGAP domain (392 - 542)
SH3_9: Variant SH3 domain (763 - 812)
- 0
- 200
- 400
- 600
- 814 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
rho GTPase-activating protein 26 |
|
ARHGAP26 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
ARHGAP26 | Q9UNA1 | PKN3 | Homo sapiens | Q6P5Z2 | 11432776 | |
|
Intra
|
ARHGAP26 | Q9UNA1 | CDC42EP2 | Homo sapiens | O14613 | 25416956 | |
|
Intra
|
ARHGAP26 | Q9UNA1 | CDC42EP2 | Homo sapiens | O14613 | 25416956 |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Juvenile Myelomonocytic Leukemia |
|
|
| Myelodysplastic Syndrome |
|
|
| Alpha-Thalassemia |
|
|
| Diffuse Gastric Cancer |
|
|