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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 by RefSeq, Aug 2012]
ARHGAP1 (Rho GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with ARHGAP1 include Noma and Lowe Oculocerebrorenal Syndrome. Among its related pathways are Signaling by GPCR and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and SH3/SH2 adaptor activity. An important paralog of this gene is PRR5-ARHGAP8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005070 | SH3/SH2 adaptor activity | TAS | -- |
GO:0005096 | GTPase activator activity | IDA | 8253717 |
GO:0005515 | protein binding | IPI | 9262406 |
GO:0017124 | SH3 domain binding | IEA | -- |
GO:0017137 | Rab GTPase binding | IPI | 16380373 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 25468996 |
GO:0005829 | cytosol | TAS | -- |
GO:0010008 | endosome membrane | IDA | 16380373 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Actin Nucleation by ARP-WASP Complex |
CDC42 Pathway
.41
|
RhoA Pathway
.35
|
2 | G12-G13 in Cellular Signaling |
G12-G13 in Cellular Signaling
-
|
|
3 | RhoGDI Pathway |
RhoGDI Pathway
.33
|
|
4 | p75 NTR receptor-mediated signalling |
.36
|
|
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0007264 | small GTPase mediated signal transduction | IDA | 8253717 |
GO:0007266 | Rho protein signal transduction | TAS | 8253717 |
GO:0009967 | positive regulation of signal transduction | IEA | -- |
GO:0016197 | endosomal transport | IMP | 16380373 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
HJC 0350 | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
HJC 0350 | 885434-70-8 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 14b |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ARHGAP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ARHGAP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ARHGAP1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Arhgap1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ARHGAP1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arhgap1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ARHGAP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ARHGAP1 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | ARHGAP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | arhgap1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | arhgap1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | RhoGAP68F 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | rga-1 30 31 |
|
OneToMany | |
W02B12.8 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC1565.02c 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711378 | Benign: not provided | 46,680,520(-) | G/A | MISSENSE_VARIANT | |
721757 | Likely Benign: not provided | 46,679,391(-) | G/A | MISSENSE_VARIANT | |
722022 | Likely Benign: not provided | 46,695,684(-) | G/A | MISSENSE_VARIANT | |
726522 | Benign: not provided | 46,695,733(-) | C/T | SYNONYMOUS_VARIANT | |
733740 | Benign: not provided | 46,680,675(-) | G/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3626191 | CNV | gain | 21293372 |
esv3626192 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
noma |
|
|
lowe oculocerebrorenal syndrome |
|
|
brain cancer |
|
|
non-syndromic x-linked intellectual disability |
|
|