ARHGDIA Rho GDP dissociation inhibitor alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGDIAprovided by HGNC
Official Full Name: Rho GDP dissociation inhibitor alphaprovided by HGNC
Primary source: HGNC:HGNC:678
See related: Ensembl:ENSG00000141522 MIM:601925; AllianceGenome:HGNC:678
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GDIA1; NPHS8; RHOGDI; RHOGDI-1; HEL-S-47e
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 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]
Expression: Ubiquitous expression in colon (RPKM 69.2), fat (RPKM 67.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (81867721..81871337, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (82734886..82738502, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (79825597..79829213, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RhoGDI1 interacts with PHLDA2, suppresses the proliferation, migration, and invasion of trophoblast cells, and participates in the pathogenesis of preeclampsia.
Title: RhoGDI1 interacts with PHLDA2, suppresses the proliferation, migration, and invasion of trophoblast cells, and participates in the pathogenesis of preeclampsia.
miR-497 promotes the migration and invasion of human medulloblast Daoy cell line through targeted regulation of ARHGDIA in vitro.
Title: miR-497 promotes the migration and invasion of human medulloblast Daoy cell line through targeted regulation of ARHGDIA in vitro.
Downregulation of miR4835p inhibits TGFbeta1induced EMT by targeting RhoGDI1 in pulmonary fibrosis.
Title: Downregulation of miR‑483‑5p inhibits TGF‑β1‑induced EMT by targeting RhoGDI1 in pulmonary fibrosis.
connects the interaction between RhoGDI1 and ephrinB1 to the promotion of cancer cell behavior associated with tumor progression
Title: EphrinB1 promotes cancer cell migration and invasion through the interaction with RhoGDI1.
Results indicate that protein phosphatase 1B (PPM1B) negatively regulates cancer cell motility and invasiveness through dephosphorylating Rho guanine nucleotide dissociation inhibitor 1 (RhoGDI1).
Title: Protein phosphatase 1B dephosphorylates Rho guanine nucleotide dissociation inhibitor 1 and suppresses cancer cell migration and invasion.
RhoGDIalpha is involved in the maintenance of glioma stem cells
Title: RhoGDIα suppresses self-renewal and tumorigenesis of glioma stem cells.
analysis of the Kindlin-2-RhoGDIalpha-Rac1 signaling axis that is critical for regulation of podocyte structure and function in vivo
Title: Kindlin-2 Association with Rho GDP-Dissociation Inhibitor α Suppresses Rac1 Activation and Podocyte Injury.
Data suggest that the interaction between PCBP2 and the 3'UTR of the ARHGDIA mRNA may induce a local change in RNA structure that favors subsequent binding of miR-151-5p and miR-16, thus leading to the suppression of ARHGDIA expression.
Title: Interplay between PCBP2 and miRNA modulates ARHGDIA expression and function in glioma migration and invasion.
These molecular changes are indicative of long-term premature endothelial dysfunction and provide a mechanistic framework to the epidemiological data showing increased risk of cardiovascular disease at 0.5 Gy.
Title: Proteome analysis of irradiated endothelial cells reveals persistent alteration in protein degradation and the RhoGDI and NO signalling pathways.
our results suggest that RhoGDIalpha regulate TRF1 and telomere length and may be novel prognostic biomarkers in colorectal cancer
Title: Rho GDP-dissociation inhibitor α is a potential prognostic biomarker and controls telomere regulation in colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (61)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nephrotic syndrome, type 8 MedGen: C3808953 OMIM: 615244 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Nef downregulates the expression of Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA) protein in Nef-transfected SupT1 cells	PubMed
Tat	tat	In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex	PubMed
Vpr	vpr	HIV-1 Vpr-expressing Jurkat T cell clones showed a significant upregulation of Rho GDI expression	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables Rho GDP-dissociation inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in regulation of Rho protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle cycle	IEA Inferred from Electronic Annotation more info
involved_in semaphorin-plexin signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in immunological synapse	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: rho GDP-dissociation inhibitor 1

Names: GDP-dissociation inhibitor, aplysia RAS-related 1; Rho GDP dissociation inhibitor (GDI) alpha; epididymis secretory sperm binding protein Li 47e

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034210.1 RefSeqGene

Range

5070..8686

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001185077.3 → NP_001172006.1 rho GDP-dissociation inhibitor 1 isoform a

See identical proteins and their annotated locations for NP_001172006.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform (a). Variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AC145207, AI751683, BC005851, BM552638, CF132324

Consensus CDS

CCDS11788.1

UniProtKB/Swiss-Prot

A8MXW0, B2R5X1, B4DDD3, B4DUV9, P52565, Q6IBM5

UniProtKB/TrEMBL

A0A0S2Z3D9, V9HWE8

Related

ENSP00000441348.2, ENST00000541078.7

Conserved Domains (1) summary

pfam02115
Location:11 → 201

Rho_GDI; RHO protein GDP dissociation inhibitor
NM_001185078.3 → NP_001172007.1 rho GDP-dissociation inhibitor 1 isoform b

See identical proteins and their annotated locations for NP_001172007.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AI751683, AK300816, BC005851

Consensus CDS

CCDS58609.1

UniProtKB/TrEMBL

A0A0S2Z3D9

Related

ENSP00000383556.4, ENST00000400721.8

Conserved Domains (1) summary

pfam02115
Location:11 → 157

Rho_GDI; RHO protein GDP dissociation inhibitor
NM_001301240.2 → NP_001288169.1 rho GDP-dissociation inhibitor 1 isoform c

See identical proteins and their annotated locations for NP_001288169.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (c) is longer than isoform a. Variants 4 and 5 encode the same isoform (c).

Source sequence(s)

AI751683, BC005851, BF343803, BI768191, BQ674863

Consensus CDS

CCDS77133.1

UniProtKB/TrEMBL

J3KTF8, J3QQX2

Related

ENSP00000463939.1, ENST00000584461.5

Conserved Domains (1) summary

pfam02115
Location:19 → 168

Rho_GDI; RHO protein GDP dissociation inhibitor
NM_001301241.2 → NP_001288170.1 rho GDP-dissociation inhibitor 1 isoform c

See identical proteins and their annotated locations for NP_001288170.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (c) is longer than isoform a. Variants 4 and 5 encode the same isoform (c).

Source sequence(s)

AC145207, AI751683, BC005851, BI755343, CF132324

Consensus CDS

CCDS77133.1

UniProtKB/TrEMBL

J3KTF8, J3QQX2

Related

ENSP00000462960.1, ENST00000579121.5

Conserved Domains (1) summary

pfam02115
Location:19 → 168

Rho_GDI; RHO protein GDP dissociation inhibitor
NM_001301242.2 → NP_001288171.1 rho GDP-dissociation inhibitor 1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and lacks an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (d) is longer than isoform a.

Source sequence(s)

AI751683, BC005851, BP325393

UniProtKB/Swiss-Prot

P52565

Conserved Domains (1) summary

pfam02115
Location:19 → 145

Rho_GDI; RHO protein GDP dissociation inhibitor
NM_001301243.2 → NP_001288172.1 rho GDP-dissociation inhibitor 1 isoform e

See identical proteins and their annotated locations for NP_001288172.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and contains an alternate segment in the central coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (e) is longer than isoform a.

Source sequence(s)

AI751683, BC005851, CF132249, DC406556

UniProtKB/Swiss-Prot

P52565

Conserved Domains (1) summary

pfam02115
Location:19 → 246

Rho_GDI; RHO protein GDP dissociation inhibitor
NM_004309.6 → NP_004300.1 rho GDP-dissociation inhibitor 1 isoform a

See identical proteins and their annotated locations for NP_004300.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AI751683, BC005851

Consensus CDS

CCDS11788.1

UniProtKB/Swiss-Prot

A8MXW0, B2R5X1, B4DDD3, B4DUV9, P52565, Q6IBM5

UniProtKB/TrEMBL

A0A0S2Z3D9, V9HWE8

Related

ENSP00000269321.7, ENST00000269321.12

Conserved Domains (1) summary

pfam02115
Location:11 → 201

Rho_GDI; RHO protein GDP dissociation inhibitor

RNA

NR_125441.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' terminal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI751683, BC005851, DA433004, DC406556