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

    Gene ID: 396, updated on 17-Jun-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
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 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_001185077.3NP_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
      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_001185078.3NP_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/Swiss-Prot
      P52565
      Related
      ENSP00000383556.4, ENST00000400721.8
      Conserved Domains (1) summary
      pfam02115
      Location:11157
      Rho_GDI; RHO protein GDP dissociation inhibitor
    3. NM_001301240.2NP_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/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_001301241.2NP_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/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_001301242.2NP_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:19145
      Rho_GDI; RHO protein GDP dissociation inhibitor
    6. NM_001301243.2NP_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: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, ENST00000269321.12
      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.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 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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