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

Gene ID: 396, updated on 12-Mar-2019

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
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

Genomic context

See ARHGDIA in Genome Data Viewer
Location:
17q25.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (81867719..81871406, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79825595..79829282, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 27 Neighboring gene prolyl 4-hydroxylase subunit beta Neighboring gene Aly/REF export factor Neighboring gene anaphase promoting complex subunit 11 Neighboring gene phosphate cytidylyltransferase 2, ethanolamine Neighboring gene neuropeptide B

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117248

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
Rac GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rho GDP-dissociation inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of axonogenesis TAS
Traceable Author Statement
more info
 
negative regulation of cell adhesion TAS
Traceable Author Statement
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of axonogenesis TAS
Traceable Author Statement
more info
 
regulation of Rho protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of actin cytoskeleton reorganization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
semaphorin-plexin signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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

  1. NG_034210.1 RefSeqGene

    Range
    5001..8688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001185077.2NP_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)
    AI391750, AI751683, BC005851, BM552638, CF132324
    Consensus CDS
    CCDS11788.1
    UniProtKB/Swiss-Prot
    P52565
    UniProtKB/TrEMBL
    V9HWE8
    Related
    ENSP00000441348.2, ENST00000541078.6
    Conserved Domains (1) summary
    pfam02115
    Location:11201
    Rho_GDI; RHO protein GDP dissociation inhibitor
  2. NM_001185078.2NP_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)
    AI391750, AI751683, AK300816, BC005851, DC406556
    Consensus CDS
    CCDS58609.1
    UniProtKB/Swiss-Prot
    P52565
    Related
    ENSP00000383556.4, ENST00000400721.8
    Conserved Domains (1) summary
    pfam02115
    Location:11157
    Rho_GDI; RHO protein GDP dissociation inhibitor
  3. NM_001301240.1NP_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)
    AI391750, AI751683, BC005851, BF343803, BI768191, BQ674863, DC406556
    Consensus CDS
    CCDS77133.1
    UniProtKB/Swiss-Prot
    P52565
    UniProtKB/TrEMBL
    J3QQX2
    Related
    ENSP00000463939.1, ENST00000584461.5
    Conserved Domains (1) summary
    pfam02115
    Location:19168
    Rho_GDI; RHO protein GDP dissociation inhibitor
  4. NM_001301241.1NP_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)
    AI391750, AI751683, BC005851, BI755343, CF132324
    Consensus CDS
    CCDS77133.1
    UniProtKB/Swiss-Prot
    P52565
    UniProtKB/TrEMBL
    J3QQX2
    Related
    ENSP00000462960.1, ENST00000579121.5
    Conserved Domains (1) summary
    pfam02115
    Location:19168
    Rho_GDI; RHO protein GDP dissociation inhibitor
  5. NM_001301242.1NP_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)
    AI391750, AI751683, BC005851, BP325393, DC406556
    UniProtKB/Swiss-Prot
    P52565
    Conserved Domains (1) summary
    pfam02115
    Location:19145
    Rho_GDI; RHO protein GDP dissociation inhibitor
  6. NM_001301243.1NP_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)
    AI391750, AI751683, BC005851, CF132249, DC406556
    UniProtKB/Swiss-Prot
    P52565
    Conserved Domains (1) summary
    pfam02115
    Location:19246
    Rho_GDI; RHO protein GDP dissociation inhibitor
  7. NM_004309.6NP_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
    P52565
    UniProtKB/TrEMBL
    V9HWE8
    Related
    ENSP00000269321.7, ENST00000269321.11
    Conserved Domains (1) summary
    pfam02115
    Location:11201
    Rho_GDI; RHO protein GDP dissociation inhibitor

RNA

  1. NR_125441.1 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)
    AI391750, AI751683, BC005851, DA433004, DC406556

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    81867719..81871406 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523574.1XP_011521876.1  rho GDP-dissociation inhibitor 1 isoform X1

    See identical proteins and their annotated locations for XP_011521876.1

    Conserved Domains (1) summary
    pfam02115
    Location:19246
    Rho_GDI; RHO protein GDP dissociation inhibitor
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