ARHGDIA (Rho GDP dissociation inhibitor alpha)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 396
Gene name Rho GDP dissociation inhibitor alpha
Gene symbol ARHGDIA
Synonyms (NCBI Gene)
GDIA1HEL-S-47eNPHS8RHOGDIRHOGDI-1
Chromosome 17
Chromosome location 17q25.3
Summary 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 st
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs587776969 GTC>- Pathogenic Splice acceptor variant, inframe deletion, coding sequence variant, intron variant, non coding transcript variant
rs587777552 C>A Pathogenic Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs587777553 G>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
1029
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1029)
miRTarBase ID miRNA Experiments Reference
MIRT004486 hsa-miR-151a-5p real time qRT-PCRLuciferase reporter assayWestern blot 20305651
MIRT001479 hsa-miR-16-5p pSILAC 18668040
MIRT001479 hsa-miR-16-5p Proteomics;Other 18668040
MIRT049570 hsa-miR-92a-3p CLASH 23622248
MIRT047092 hsa-miR-183-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (24)
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse IEA
GO:0005094 Function Rho GDP-dissociation inhibitor activity IBA
GO:0005094 Function Rho GDP-dissociation inhibitor activity IEA
GO:0005094 Function Rho GDP-dissociation inhibitor activity TAS 8262133
GO:0005096 Function GTPase activator activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601925 678 ENSG00000141522
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52565
Protein name Rho GDP-dissociation inhibitor 1 (Rho GDI 1) (Rho-GDI alpha)
Protein function Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Retains Rho proteins such as CDC42, RAC1 and RHOA in an in
PDB 1CC0 , 1FSO , 1FST , 1FT0 , 1FT3 , 1HH4 , 1KMT , 1QVY , 1RHO , 2BXW , 2JHS , 2JHT , 2JHU , 2JHV , 2JHW , 2JHX , 2JHY , 2JHZ , 2JI0 , 2N80 , 8X8T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02115 Rho_GDI 11 → 201 RHO protein GDP dissociation inhibitor Domain
Sequence
Sequence length 204
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neurotrophin signaling pathway
Vasopressin-regulated water reabsorption 		  Axonal growth inhibition (RHOA activation)
Rho GTPase cycle
Axonal growth stimulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nephrotic syndrome, type 8 Pathogenic; Likely pathogenic rs587777552, rs587777553, rs924285282, rs587776969 RCV000128808
RCV000128809
RCV003989179
RCV000043532
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ARHGDIA-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs768880419, rs1018520979, rs532896353, rs760805237, rs774369485, rs2509976594, rs369699594, rs151190257, rs754414636, rs111331642, rs189865523 RCV003911568
RCV003921808
RCV003939839
RCV003931393
RCV003937201
RCV003951439
RCV003934313
RCV003934353
RCV003957400
RCV003958156
RCV003908425
Chronic kidney disease Uncertain significance rs189865523 RCV001171353
Familial cancer of breast Likely benign rs370172286 RCV005932039
Finnish congenital nephrotic syndrome Uncertain significance rs757131763 RCV000626070
Show/Hide Text Mining Associations (20)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 24815488
Carcinoma Hepatocellular Inhibit 12679910
Carcinoma Hepatocellular Associate 24228117, 24374343
Carcinoma Pancreatic Ductal Associate 27832197
Colorectal Neoplasms Associate 20812987, 28417530
Death Associate 19401544
Genetic Diseases Inborn Associate 24196483
Lung Neoplasms Associate 24685647
Mesothelioma Associate 21569526
Neoplasm Metastasis Associate 22393046, 26707877