ARHGDIA
Rho GDP-dissociation inhibitor 1
Also known as: GDIA1, GDIR1_HUMAN, RHOGDI
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P52565
- Gene
- ARHGDIA
- Ensembl
- ENSG00000141522
- Chromosome
- 17
- Canonical length
- 204 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
204 residues, UniProt reviewed canonical sequence.
>P52565|ARHGDIA
1 MAEQEPTAEQ LAQIAAENEE DEHSVNYKPP AQKSIQEIQE LDKDDESLRK YKEALLGRVA
61 VSADPNVPNV VVTGLTLVCS SAPGPLELDL TGDLESFKKQ SFVLKEGVEY RIKISFRVNR
121 EIVSGMKYIQ HTYRKGVKID KTDYMVGSYG PRAEEYEFLT PVEEAPKGML ARGSYSIKSR
181 FTDDDKTDHL SWEWNLTIKK DWKDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ARHGDIA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 302 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 302 nTPM
- adipose tissue: 267 nTPM
- esophagus: 265 nTPM
- lung: 263 nTPM
- spleen: 241 nTPM
- kidney: 229 nTPM
Single-cell type
- esophageal apical cells: 364 nCPM
- extravillous trophoblasts: 341 nCPM
- neutrophil progenitors: 297 nCPM
- hofbauer cells: 287 nCPM
- enterocytes: 277 nCPM
- syncytiotrophoblasts: 272 nCPM
Immune cell
- non-classical monocyte: 103 nTPM
- eosinophil: 88 nTPM
- intermediate monocyte: 73 nTPM
- gdT-cell: 65 nTPM
- memory CD8 T-cell: 63 nTPM
- MAIT T-cell: 61 nTPM
Brain region
- pons: 320 nTPM
- midbrain: 300 nTPM
- hypothalamus: 281 nTPM
- medulla oblongata: 270 nTPM
- cerebral cortex: 255 nTPM
- thalamus: 237 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ARHGDIA.
Disease | AllUniProt
Conditions ARHGDIA is implicated in, by any mechanism.
- Nephrotic syndrome 8 (NPHS8) MIM:615244
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 92 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Nephrotic syndrome, type 8
Disease | ImmuneIEDB
Conditions an epitope on ARHGDIA was assayed in.
- brain glioma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.87
- gnomAD pLI
- 0.04
- gnomAD missense Z
- 1.2
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- negative regulation of apoptotic process
- regulation of protein localization
- regulation of Rho protein signal transduction
- regulation of synaptic vesicle cycle
- Rho protein signal transduction
- semaphorin-plexin signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ARHGDIA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ARHGDIA as an antibody target. Whether an autoantibody or antibody against ARHGDIA could matter depends on whether native ARHGDIA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ARHGDIA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ARHGDIA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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