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

    Gene ID: 396, updated on 7-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARHGDIA in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81867721..81871337, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82734886..82738502, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79825597..79829213, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79791171-79791684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79792198-79792710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79792711-79793223 Neighboring gene protein phosphatase 1 regulatory subunit 27 Neighboring gene prolyl 4-hydroxylase subunit beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79813353-79813852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9154 Neighboring gene uncharacterized LOC124904086 Neighboring gene Sharpr-MPRA regulatory region 9355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79823980-79824608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79825239-79825867 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79825868-79826497 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79826498-79827126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12983 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:79846281-79847480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9161 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79850899-79851114 Neighboring gene Aly/REF export factor Neighboring gene anaphase promoting complex subunit 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9164 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 Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC117248

    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 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

    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)

    NEW Try the new Transcript table

    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
      5070..8686
      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
      A8MXW0, B2R5X1, B4DDD3, B4DUV9, P52565, Q6IBM5
      UniProtKB/TrEMBL
      A0A0S2Z3D9, 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/TrEMBL
      A0A0S2Z3D9
      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/TrEMBL
      J3KTF8, 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/TrEMBL
      J3KTF8, 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
      A8MXW0, B2R5X1, B4DDD3, B4DUV9, P52565, Q6IBM5
      UniProtKB/TrEMBL
      A0A0S2Z3D9, V9HWE8
      Related
      ENSP00000269321.7, ENST00000269321.12
      Conserved Domains (1) summary
      pfam02115
      Location:11201
      Rho_GDI; RHO protein GDP dissociation inhibitor

    RNA

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81867721..81871337 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523574.2XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82734886..82738502 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316044.1XP_054172019.1  rho GDP-dissociation inhibitor 1 isoform X1