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This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
ARHGDIA (Rho GDP Dissociation Inhibitor Alpha) is a Protein Coding gene. Diseases associated with ARHGDIA include Nephrotic Syndrome, Type 8 and Genetic Steroid-Resistant Nephrotic 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 Rho GDP-dissociation inhibitor activity. An important paralog of this gene is ARHGDIB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005094 | Rho GDP-dissociation inhibitor activity | IEA,IBA | 21873635 |
GO:0005096 | GTPase activator activity | IEA | -- |
GO:0005504 | fatty acid binding | IEA | -- |
GO:0005515 | protein binding | IPI | 10489445 |
GO:0017048 | Rho GTPase binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001772 | immunological synapse | IEA | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | p75 NTR receptor-mediated signalling |
.36
|
|
2 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation by ARP-WASP Complex
.66
|
RhoA Pathway
.35
|
3 | G-protein signaling RAC1 in cellular process | ||
4 | Cytoskeletal Signaling | ||
5 | Development HGF signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007162 | negative regulation of cell adhesion | TAS | 8262133 |
GO:0007266 | Rho protein signal transduction | IBA | 21873635 |
GO:0008360 | regulation of cell shape | IEA | -- |
GO:0030336 | negative regulation of cell migration | IEA | -- |
GO:0032880 | regulation of protein localization | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | · | 7f | · | 7g | · | 7h | ^ | 8a | · | 8b | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP11: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ARHGDIA 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ARHGDIA 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ARHGDIA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ARHGDIA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Arhgdia 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arhgdia 30 |
|
||
Chicken (Gallus gallus) |
Aves | ARHGDIA 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ARHGDIA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | arhgdia 30 |
|
||
Str.1468 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.13978 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | arhgdia 30 31 |
|
OneToOne | |
wufa96g11 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012168 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | RhoGDI 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | rhi-1 30 31 32 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADR098C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F05313g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RDI1 30 31 33 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SCN1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os06g0318300 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06561 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC6F12.06 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713710 | Likely Benign: not provided | 81,869,079(-) | C/T | INTRON_VARIANT | |
727690 | Benign: not provided | 81,869,059(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
915863 | Uncertain Significance: Chronic kidney disease | 81,868,633(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
rs587776969 | Pathogenic: Nephrotic syndrome, type 8 | 81,868,935(-) | TGTC/T | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION,INTRON_VARIANT | |
rs587777552 | Pathogenic: Nephrotic syndrome, type 8 | 81,868,973(-) | C/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv21913 | CNV | gain+loss | 19812545 |
esv3641407 | CNV | gain | 21293372 |
nsv1071814 | CNV | deletion | 25765185 |
nsv1126474 | CNV | deletion | 24896259 |
nsv1136245 | CNV | deletion | 24896259 |
nsv428351 | CNV | gain | 18775914 |
nsv470620 | CNV | loss | 18288195 |
nsv833569 | CNV | loss | 17160897 |
nsv952391 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrotic syndrome, type 8 |
|
|
genetic steroid-resistant nephrotic syndrome |
|
|
nephrotic syndrome |
|
|
diffuse mesangial sclerosis |
|
|
articulation disorder |
|
|