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Aliases for ARHGDIA Gene

Aliases for ARHGDIA Gene

  • 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-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 (GDI) 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 Signaling by GPCR and RhoGDI Pathway. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ARHGDIA Gene at MOPED

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)

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 --
GO:0005515 protein binding IPI 10489445
GO:0017048 Rho GTPase binding --
genes like me logo Genes that share ontologies with ARHGDIA: view
genes like me logo Genes that share phenotypes with ARHGDIA: view

Animal Models for ARHGDIA Gene

MGI Knock Outs for ARHGDIA:

miRNA for ARHGDIA Gene

miRTarBase miRNAs that target ARHGDIA

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARHGDIA

In Situ Assay 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
extracellular 5
cytosol 4
nucleus 2
plasma membrane 2
vacuole 1

Gene Ontology (GO) - Cellular Components for ARHGDIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse --
GO:0005615 extracellular space --
GO:0005634 nucleus --
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0007264 small GTPase mediated signal transduction TAS --
GO:0007266 Rho protein signal transduction TAS 8262133
GO:0008360 regulation of cell shape --
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
gdp
gtp
Partial agonist, Agonist
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARHGDIA

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 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, MOPED, and MaxQB for ARHGDIA Gene



SOURCE GeneReport for Unigene cluster for ARHGDIA Gene Hs.159161

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

Protein tissue co-expression partners for ARHGDIA Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ARHGDIA 35
  • 91.34 (n)
  • 97.06 (a)
ARHGDIA 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGDIA 35
  • 91.83 (n)
  • 97.55 (a)
ARHGDIA 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgdia 35
  • 88.4 (n)
  • 97.06 (a)
Arhgdia 16
Arhgdia 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARHGDIA 35
  • 99.35 (n)
  • 100 (a)
ARHGDIA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgdia 35
  • 87.58 (n)
  • 97.06 (a)
oppossum
(Monodelphis domestica)
Mammalia ARHGDIA 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGDIA 35
  • 83.5 (n)
  • 91.18 (a)
ARHGDIA 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGDIA 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgdia 35
  • 69.8 (n)
  • 78.71 (a)
Str.1468 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.13978 35
zebrafish
(Danio rerio)
Actinopterygii arhgdia 35
  • 79.8 (n)
  • 81.77 (a)
wufa96g11 35
arhgdia 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RhoGDI 37
  • 52 (a)
RhoGDI 35
  • 59.42 (n)
  • 54.35 (a)
RhoGDI 36
  • 49 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012168 35
  • 61.08 (n)
  • 57.3 (a)
worm
(Caenorhabditis elegans)
Secernentea rhi-1 37
  • 39 (a)
rhi-1 35
  • 50.09 (n)
  • 40.33 (a)
rhi-1 36
  • 39 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR098C 35
  • 53.75 (n)
  • 37.64 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05313g 35
  • 46.48 (n)
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RDI1 35
  • 45.95 (n)
  • 41.81 (a)
RDI1 36
  • 38 (a)
OneToMany
RDI1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons SCN1 35
  • 49.41 (n)
  • 40.61 (a)
rice
(Oryza sativa)
Liliopsida Os06g0318300 35
  • 54.64 (n)
  • 40.98 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06561 35
  • 55.68 (n)
  • 43.41 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC6F12.06 35
  • 44.02 (n)
  • 38.59 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for ARHGDIA:
  • 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 MAF
rs753250137 -- 81,869,965(+) GTGGG(A/C)GGGAC intron-variant
rs752937765 -- 81,869,564(+) AGGGG(C/G)CCCGG reference, synonymous-codon, nc-transcript-variant
rs752693120 -- 81,869,744(+) ACCTG(C/T)GGAAA missense, reference, nc-transcript-variant
rs752585650 -- 81,868,878(+) GGCTC(A/G)GTCCT stop-lost, reference, intron-variant, synonymous-codon, nc-transcript-variant
rs752562436 -- 81,872,312(+) TGGGA(C/T)GCTGC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv909052 CNV Loss 21882294
nsv428351 CNV Gain 18775914
dgv3330n71 CNV Loss 21882294
dgv3332n71 CNV Loss 21882294
nsv470620 CNV Loss 18288195
dgv3333n71 CNV Loss 21882294
nsv909134 CNV Loss 21882294
esv21913 CNV Gain+Loss 19812545
nsv909128 CNV Gain+Loss 21882294
nsv833569 CNV Loss 17160897
dgv3337n71 CNV Loss 21882294
dgv3338n71 CNV Loss 21882294
dgv3339n71 CNV Loss 21882294
nsv909151 CNV Gain+Loss 21882294
dgv3340n71 CNV Loss 21882294
dgv3341n71 CNV Loss 21882294

Variation tolerance for ARHGDIA Gene

Residual Variation Intolerance Score: 49.09% 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

HapMap Linkage Disequilibrium report
ARHGDIA
Human Gene Mutation Database (HGMD)
ARHGDIA

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

Disorders for ARHGDIA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
nephrotic syndrome, type 8
  • nephrotic syndrome 8
familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
familial idiopathic steroid-resistant nephrotic syndrome
  • familial idiopathic nephrotic syndrome
diffuse mesangial sclerosis
  • diffuse isolated mesangial sclerosis
nephrotic syndrome
  • finnish congenital nephrosis
- elite association

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. Protein-protein-interactions in a multiplexed, miniaturized format a functional analysis of Rho GTPase activation and inhibition. (PMID: 20127689) Schmohl M. … Schneiderhan-Marra N. (Proteomics 2010) 23 67
  2. Diacylglycerol kinase zeta regulates actin cytoskeleton reorganization through dissociation of Rac1 from RhoGDI. (PMID: 19211846) Abramovici H. … Gee S.H. (Mol. Biol. Cell 2009) 23 67
  3. Expression of RHOGTPase regulators in human myometrium. (PMID: 18190708) O'Brien M. … Smith T.J. (Reprod. Biol. Endocrinol. 2008) 23 67
  4. Stimulus-dependent regulation of the phagocyte NADPH oxidase by a VAV1, Rac1, and PAK1 signaling axis. (PMID: 18160398) Roepstorff K. … Vilhardt F. (J. Biol. Chem. 2008) 23 67
  5. Role of Rac and Rho-GDI alpha in the frequency-dependent expression of h1-calponin in vascular smooth muscle cells under cyclic mechanical strain. (PMID: 18566890) Qu M.J. … Jiang Z.L. (Ann Biomed Eng 2008) 23 67

Products for ARHGDIA Gene

Sources for ARHGDIA Gene

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