ARHGAP17
Rho GTPase Activating Protein 17
Gene Information Card
| Symbol | ARHGAP17 |
|---|---|
| Full Name | Rho GTPase Activating Protein 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | 64314 ncbi.nlm.nih.gov/gene/64314 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q68EM7 |
| OMIM ID | 608594 |
| HGNC ID | 24039 |
| Aliases | RICH1, NADRIN, KIAA0337, PP9054, MSTP066 |
Description
ARHGAP17 encodes a member of the Rho GTPase-activating protein (RhoGAP) family. The protein contains a RhoGAP domain that catalyzes the conversion of active GTP-bound Rho family GTPases to the inactive GDP-bound form, thereby negatively regulating Rho-mediated signaling. ARHGAP17 is involved in cytoskeletal organization, cell migration, and vesicular trafficking. It is widely expressed and has been implicated in neuronal development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may affect cell migration and invasion via Rho signaling | PMID: 25605274 |
| Colorectal cancer | Downregulation associated with poor prognosis | PMID: 28411375 |
| Schizophrenia | Genetic variants linked to synaptic dysfunction | PMID: 21743477 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Lung | 8.7 | Low |
| Liver | 5.2 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Embryonic kidney |
| HeLa | 7.8 | Cervical carcinoma |
| SH-SY5Y | 14.2 | Neuroblastoma |
| MCF7 | 6.5 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional effect |
| c.567_569del (p.Lys189del) | In-frame deletion | <0.01% | Potential loss of GAP activity |
Mutation functional classification
Loss of Function (LOF)
Deletions or missense mutations in the RhoGAP domain may impair GTPase activation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Rho GTPase activator activity | • GTPase activator activity |
| • cytosol | • plasma membrane |
| • cell junction | • synapse |
| • regulation of cell shape | • actin cytoskeleton organization |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
• Axon guidance
Protein Summary
ARHGAP17 (RICH1) is a 748-amino acid protein containing an N-terminal RhoGAP domain, a proline-rich region, and a C-terminal coiled-coil domain. It localizes to the plasma membrane and cell junctions, where it inactivates RhoA, Rac1, and Cdc42. The protein plays a role in maintaining epithelial polarity, regulating tight junctions, and modulating neuronal spine morphology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGAP17 Knockout HEK293 Cell Line | EDJ-KQ12407 | Human | 55114 | Details Get a Quote |
| ARHGAP17 Knockout A-549 Cell Line | EDJ-KQ41302 | Human | 55114 | Details Get a Quote |
| ARHGAP17 Knockout HCT 116 Cell Line | EDJ-KQ41303 | Human | 55114 | Details Get a Quote |
| ARHGAP17 Knockout HeLa Cell Line | EDJ-KQ41304 | Human | 55114 | Details Get a Quote |
