ARHGAP17 (Rho GTPase activating protein 17)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 55114 |
| Gene name | Rho GTPase activating protein 17 |
| Gene symbol | ARHGAP17 |
| Synonyms (NCBI Gene) |
MST066MST110MSTP038MSTP066MSTP110NADRINPP367PP4534RICH-1RICH1WBP15
|
| Chromosome | 16 |
| Chromosome location | 16p12.1 |
| Summary | RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004] |
|
miRNA
miRNA information provided by mirtarbase database.
63
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
||||||||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q68EM7 | |||||||||||||||
| Protein name | Rho GTPase-activating protein 17 (Rho-type GTPase-activating protein 17) (RhoGAP interacting with CIP4 homologs protein 1) (RICH-1) | |||||||||||||||
| Protein function | Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase activator for the CDC42 GTPase | |||||||||||||||
| Family and domains |
Pfam
|
|||||||||||||||
| Tissue specificity | TISSUE SPECIFICITY: Ubiquitously expressed. Expressed at higher level in heart and placenta. {ECO:0000269|PubMed:11431473}. | |||||||||||||||
| Sequence |
|
|||||||||||||||
| Sequence length | 881 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
|
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
|||||||||
|
|||||||||
|
Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||