Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
392
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Rho GTPase activating protein 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
ARHGAP1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CDC42GAP, RHOGAP, RHOGAP1, p50rhoGAP |
Chromosome
Chromosome number
|
11 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
11p11.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided b |
UniProt ID |
Q07960
|
Protein name |
Rho GTPase-activating protein 1 (CDC42 GTPase-activating protein) (GTPase-activating protein rhoGAP) (Rho-related small GTPase protein activator) (Rho-type GTPase-activating protein 1) (p50-RhoGAP) |
Protein function |
GTPase activator for the Rho, Rac and Cdc42 proteins, converting them to the putatively inactive GDP-bound state. Cdc42 seems to be the preferred substrate. |
PDB |
1AM4
,
1GRN
,
1OW3
,
1RGP
,
1TX4
,
2NGR
,
5M6X
,
5M70
,
6R3V
,
7QSC
,
7QTM
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF13716
|
CRAL_TRIO_2 |
82 → 216 |
Divergent CRAL/TRIO domain |
Domain |
PF00620
|
RhoGAP |
260 → 408 |
RhoGAP domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Ubiquitous. |
Sequence |
|
Sequence length |
439 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
22530067 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Hypertrophic cardiomyopathy |
Hypertrophic cardiomyopathy |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
23200924 |
Adenocarcinoma of Lung |
Associate
|
35291911 |
Breast Neoplasms |
Associate
|
27216196, 37511111 |
Carcinogenesis |
Associate
|
36676763 |
Carcinoma Hepatocellular |
Associate
|
24443565, 28000796, 35763041, 36168627 |
Glioblastoma |
Associate
|
23200924 |
Glioma |
Associate
|
24316134 |
Holt Oram syndrome |
Associate
|
31836741 |
Neoplasm Metastasis |
Associate
|
37511111 |
Neoplasms |
Associate
|
18829524, 23684608, 24386239, 25743845, 32606003, 34727930 |
Neoplasms |
Inhibit
|
19151751, 24443565, 27216196 |
Osteosarcoma |
Associate
|
31836741 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
23200924 |
Stomach Neoplasms |
Associate
|
30361512 |
Virus Diseases |
Associate
|
35475647 |
|