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Aliases for ARHGDIA Gene

Aliases for ARHGDIA Gene

  • Rho GDP Dissociation Inhibitor Alpha 2 3 5
  • Rho GDP Dissociation Inhibitor (GDI) Alpha 2 3
  • GDIA1 3 4
  • GDP-Dissociation Inhibitor, Aplysia RAS-Related 1 3
  • Epididymis Secretory Sperm Binding Protein Li 47e 3
  • Rho GDP-Dissociation Inhibitor 1 3
  • Rho-GDI Alpha 4
  • HEL-S-47e 3
  • Rho GDI 1 4
  • RHOGDI-1 3
  • RHOGDI 3
  • NPHS8 3

External Ids for ARHGDIA Gene

Previous HGNC Symbols for ARHGDIA Gene

  • GDIA1

Previous GeneCards Identifiers for ARHGDIA Gene

  • GC17M079317
  • GC17M9I0128
  • GC17M080361
  • GC17M9I0504
  • GC17M9I7418
  • GC17M077419
  • GC17M079825
  • GC17M075227

Summaries for ARHGDIA Gene

Entrez Gene Summary for ARHGDIA Gene

  • 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]

GeneCards Summary for ARHGDIA Gene

ARHGDIA (Rho GDP Dissociation Inhibitor Alpha) is a Protein Coding gene. Diseases associated with ARHGDIA include Nephrotic Syndrome, Type 8 and Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Diffuse Mesangial Sclerosis. Among its related pathways are G-protein signaling_Regulation of CDC42 activity and Vasopressin-regulated water reabsorption. GO annotations related to this gene include GTPase activator activity and Rho GDP-dissociation inhibitor activity. An important paralog of this gene is ARHGDIB.

UniProtKB/Swiss-Prot for ARHGDIA Gene

  • 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 inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. Through the modulation of Rho proteins, may play a role in cell motility regulation. In glioma cells, inhibits cell migration and invasion by mediating the signals of SEMA5A and PLXNB3 that lead to inactivation of RAC1.

Gene Wiki entry for ARHGDIA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGDIA Gene

Genomics for ARHGDIA Gene

Regulatory Elements for ARHGDIA Gene

Enhancers for ARHGDIA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F081857 0.2 ENCODE 11.4 +10.8 10788 6.1 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ENSG00000262049 HGS ALYREF ACTG1 P4HB TEPSIN ENSG00000262877 ARL16 ARHGDIA NARF-IT1
GH17F082200 1.5 FANTOM5 Ensembl ENCODE 11.1 -329.5 -329509 1.8 TBP TBL1XR1 NFRKB ZBTB40 CREM SMARCA5 ZBTB11 GTF2B ZEB2 REST CCDC57 ENSG00000262049 HGS ENSG00000263321 NARF-IT1 ACTG1 TEPSIN ARL16 ARHGDIA ALYREF
GH17F081508 0.5 ENCODE 11.1 +357.0 356965 11.7 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 ZNF143 ACTG1 ENSG00000229947 HGS FSCN2 TEPSIN ENSG00000262049 ARHGDIA TMEM105 ALYREF NARF-IT1
GH17F082367 0.2 ENCODE 11.1 -496.7 -496670 1.3 HDGF PKNOX1 ATF1 ZFP64 ARID4B DMAP1 SLC30A9 GLIS2 ZNF143 FOS ALYREF HGS NARF-IT1 ENSG00000262049 ARL2BPP9 ENSG00000262652 TEX19 LOC105371942 ACTG1 ARHGDIA
GH17F082291 1.1 FANTOM5 ENCODE 11.1 -427.2 -427228 14.7 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 TEX19 CSNK1D ENSG00000262049 HGS SLC16A3 SECTM1 CCDC57 NPLOC4 ACTG1 MIR6787
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ARHGDIA on UCSC Golden Path with GeneCards custom track

Promoters for ARHGDIA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001355443 206 2801 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for ARHGDIA Gene

Chromosome:
17
Start:
81,867,719 bp from pter
End:
81,871,406 bp from pter
Size:
3,688 bases
Orientation:
Minus strand

Genomic View for ARHGDIA Gene

Genes around ARHGDIA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGDIA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGDIA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGDIA Gene

Proteins for ARHGDIA Gene

  • Protein details for ARHGDIA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52565-GDIR1_HUMAN
    Recommended name:
    Rho GDP-dissociation inhibitor 1
    Protein Accession:
    P52565
    Secondary Accessions:
    • A8MXW0
    • B2R5X1
    • B4DDD3
    • B4DUV9
    • Q6IBM5

    Protein attributes for ARHGDIA Gene

    Size:
    204 amino acids
    Molecular mass:
    23207 Da
    Quaternary structure:
    • Monomer. Interacts with FER. Interacts with PLXNB3 (By similarity). Forms a heterodimer with RAC1. Interacts with RHOA, the affinity is increased by three orders of magnitude when RHOA is prenylated. Interacts with PSMD10; the interaction increases ARHGDIA association with RHOA, leading to ARHGDIA-mediated inactivation of RHOA and ROCK and prolonged AKT activation. Interacts with RHOC and CDC42.

    Three dimensional structures from OCA and Proteopedia for ARHGDIA Gene

    Alternative splice isoforms for ARHGDIA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGDIA Gene

Post-translational modifications for ARHGDIA Gene

  • Ubiquitination at Lys 167
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ARHGDIA (RhoGDI alpha)
  • Abcam antibodies for ARHGDIA

No data available for DME Specific Peptides for ARHGDIA Gene

Domains & Families for ARHGDIA Gene

Protein Domains for ARHGDIA Gene

Suggested Antigen Peptide Sequences for ARHGDIA Gene

Graphical View of Domain Structure for InterPro Entry

P52565

UniProtKB/Swiss-Prot:

GDIR1_HUMAN :
  • Belongs to the Rho GDI family.
Family:
  • Belongs to the Rho GDI family.
genes like me logo Genes that share domains with ARHGDIA: view

No data available for Gene Families for ARHGDIA Gene

Function for ARHGDIA Gene

Molecular function for ARHGDIA Gene

GENATLAS Biochemistry:
Rho GDP-dissociation factor inhibitor (GDI) alpha,aplysia related
UniProtKB/Swiss-Prot 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 inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. Through the modulation of Rho proteins, may play a role in cell motility regulation. In glioma cells, inhibits cell migration and invasion by mediating the signals of SEMA5A and PLXNB3 that lead to inactivation of RAC1.

Gene Ontology (GO) - Molecular Function for ARHGDIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005094 Rho GDP-dissociation inhibitor activity IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005504 fatty acid binding IEA --
GO:0005515 protein binding IPI 10489445
GO:0017048 Rho GTPase binding IEA --
genes like me logo Genes that share ontologies with ARHGDIA: view
genes like me logo Genes that share phenotypes with ARHGDIA: view

Human Phenotype Ontology for ARHGDIA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARHGDIA Gene

MGI Knock Outs for ARHGDIA:

Animal Model Products

miRNA for ARHGDIA Gene

miRTarBase miRNAs that target ARHGDIA

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ARHGDIA Gene

Localization for ARHGDIA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGDIA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARHGDIA Gene COMPARTMENTS Subcellular localization image for ARHGDIA gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 3
plasma membrane 2
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ARHGDIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 16130169
genes like me logo Genes that share ontologies with ARHGDIA: view

Pathways & Interactions for ARHGDIA Gene

genes like me logo Genes that share pathways with ARHGDIA: view

SIGNOR curated interactions for ARHGDIA Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ARHGDIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006928 movement of cell or subcellular component TAS 16130169
GO:0007162 negative regulation of cell adhesion TAS 8262133
GO:0007266 Rho protein signal transduction IEA --
GO:0008360 regulation of cell shape IEA --
GO:0030336 negative regulation of cell migration IEA --
genes like me logo Genes that share ontologies with ARHGDIA: view

Drugs & Compounds for ARHGDIA Gene

(2) Drugs for ARHGDIA Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for ARHGDIA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ARHGDIA: view

Transcripts for ARHGDIA Gene

Unigene Clusters for ARHGDIA Gene

Rho GDP dissociation inhibitor (GDI) alpha:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGDIA Gene

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: -

Relevant External Links for ARHGDIA Gene

GeneLoc Exon Structure for
ARHGDIA
ECgene alternative splicing isoforms for
ARHGDIA

Expression for ARHGDIA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGDIA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ARHGDIA Gene



Protein tissue co-expression partners for ARHGDIA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARHGDIA Gene:

ARHGDIA

SOURCE GeneReport for Unigene cluster for ARHGDIA Gene:

Hs.159161
genes like me logo Genes that share expression patterns with ARHGDIA: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ARHGDIA Gene

Orthologs for ARHGDIA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ARHGDIA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGDIA 34 35
  • 99.35 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGDIA 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGDIA 34 35
  • 91.83 (n)
cow
(Bos Taurus)
Mammalia ARHGDIA 34 35
  • 91.34 (n)
mouse
(Mus musculus)
Mammalia Arhgdia 34 16 35
  • 88.4 (n)
rat
(Rattus norvegicus)
Mammalia Arhgdia 34
  • 87.58 (n)
chicken
(Gallus gallus)
Aves ARHGDIA 34 35
  • 83.5 (n)
lizard
(Anolis carolinensis)
Reptilia ARHGDIA 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgdia 34
  • 69.8 (n)
Str.1468 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13978 34
zebrafish
(Danio rerio)
Actinopterygii arhgdia 34 35
  • 79.8 (n)
wufa96g11 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012168 34
  • 61.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta RhoGDI 36 34 35
  • 59.42 (n)
worm
(Caenorhabditis elegans)
Secernentea rhi-1 36 34 35
  • 50.09 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR098C 34
  • 53.75 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05313g 34
  • 46.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RDI1 34 35 37
  • 45.95 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SCN1 34
  • 49.41 (n)
rice
(Oryza sativa)
Liliopsida Os06g0318300 34
  • 54.64 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06561 34
  • 55.68 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC6F12.06 34
  • 44.02 (n)
Species where no ortholog for ARHGDIA was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARHGDIA Gene

ENSEMBL:
Gene Tree for ARHGDIA (if available)
TreeFam:
Gene Tree for ARHGDIA (if available)

Paralogs for ARHGDIA Gene

Paralogs for ARHGDIA Gene

(2) SIMAP similar genes for ARHGDIA Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ARHGDIA: view

Variants for ARHGDIA Gene

Sequence variations from dbSNP and Humsavar for ARHGDIA Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs587776969 Pathogenic 81,868,936(+) GTCTT(-/GTC)GTCGT intron-variant, nc-transcript-variant, cds-indel
rs587777552 Pathogenic 81,868,973(+) AGCTG(A/C)CCCGG intron-variant, nc-transcript-variant, reference, missense
rs587777553 Pathogenic 81,869,230(+) CTCTC(A/G)GTTAA nc-transcript-variant, reference, stop-gained
rs1057282 -- 81,868,849(-) GCAGA(C/G)TGACG intron-variant, nc-transcript-variant, reference, missense, utr-variant-3-prime
rs1057283 -- 81,868,845(-) ACTGA(C/T)GGACG intron-variant, nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ARHGDIA Gene

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

Variation tolerance for ARHGDIA Gene

Residual Variation Intolerance Score: 49.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGDIA Gene

Human Gene Mutation Database (HGMD)
ARHGDIA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGDIA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGDIA Gene

Disorders for ARHGDIA Gene

MalaCards: The human disease database

(3) MalaCards diseases for ARHGDIA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 8
  • nephrotic syndrome type 8
familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
diffuse mesangial sclerosis
  • diffuse isolated mesangial sclerosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GDIR1_HUMAN
  • Nephrotic syndrome 8 (NPHS8) [MIM:615244]: A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show diffuse mesangial sclerosis, with small glomeruli, hypercellularity, increased extracellular matrix, and contracted/collapsed glomerular tufts surrounded by immature or abnormal podocytes. {ECO:0000269 PubMed:23434736}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ARHGDIA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGDIA
genes like me logo Genes that share disorders with ARHGDIA: view

No data available for Genatlas for ARHGDIA Gene

Publications for ARHGDIA Gene

  1. ARHGDIA: a novel gene implicated in nephrotic syndrome. (PMID: 23434736) Gupta I.R. … Takano T. (J. Med. Genet. 2013) 3 4 64
  2. The Fer tyrosine kinase regulates interactions of Rho GDP- Dissociation Inhibitor alpha with the small GTPase Rac. (PMID: 21122136) Fei F. … Heisterkamp N. (BMC Biochem. 2010) 3 4 64
  3. Regulation of Rho GTPase crosstalk, degradation and activity by RhoGDI1. (PMID: 20400958) Boulter E. … Burridge K. (Nat. Cell Biol. 2010) 3 4 64
  4. Gankyrin plays an essential role in Ras-induced tumorigenesis through regulation of the RhoA/ROCK pathway in mammalian cells. (PMID: 20628200) Man J.H. … Zhang X.M. (J. Clin. Invest. 2010) 3 4 64
  5. Diacylglycerol kinase zeta regulates actin cytoskeleton reorganization through dissociation of Rac1 from RhoGDI. (PMID: 19211846) Abramovici H. … Gee S.H. (Mol. Biol. Cell 2009) 3 22 64

Products for ARHGDIA Gene

Sources for ARHGDIA Gene

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