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This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]
ARHGAP31 (Rho GTPase Activating Protein 31) is a Protein Coding gene. Diseases associated with ARHGAP31 include Adams-Oliver Syndrome 1 and Adams-Oliver Syndrome. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and SH3 domain binding. An important paralog of this gene is ARHGAP32.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005096 | GTPase activator activity | IBA | 21873635 |
GO:0017124 | SH3 domain binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005925 | focal adhesion | IEA | -- |
GO:0030027 | lamellipodium | IBA | 21873635 |
GO:0030054 | cell junction | IEA | -- |
GO:0042995 | cell projection | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytoskeletal Signaling | ||
2 | p75 NTR receptor-mediated signalling |
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3 | Signaling by GPCR | ||
4 | Signaling by Rho GTPases | ||
5 | G-protein signaling_Regulation of CDC42 activity |
G-protein signaling_Regulation of CDC42 activity
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0007264 | small GTPase mediated signal transduction | IEA,IBA | 21873635 |
GO:0043547 | positive regulation of GTPase activity | IEA | -- |
GO:0051056 | regulation of small GTPase mediated signal transduction | TAS | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ARHGAP31 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ARHGAP31 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ARHGAP31 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arhgap31 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Arhgap31 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ARHGAP31 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ARHGAP31 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ARHGAP31 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | arhgap31 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CdGAPr 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RGD1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638381 | Likely Benign: Adams-Oliver syndrome 1 | 119,416,068(+) | C/T | MISSENSE_VARIANT | |
710931 | Likely Benign: not provided | 119,402,381(+) | A/G | SYNONYMOUS_VARIANT | |
716907 | Likely Benign: not provided | 119,295,011(+) | TGC/T | INTRON_VARIANT | |
722934 | Likely Benign: not provided | 119,415,392(+) | T/C | MISSENSE_VARIANT | |
723003 | Likely Benign: not provided | 119,414,214(+) | A/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
adams-oliver syndrome 1 |
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adams-oliver syndrome |
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oliver syndrome |
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epileptic encephalopathy, childhood-onset |
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aortic valve disease 1 |
|
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