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

Gene ID: 396, updated on 4-Dec-2022

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
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Genomic context

See ARHGDIA in Genome Data Viewer
Location:
17q25.3
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81867721..81871337, complement)
110 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 protein phosphatase 1 regulatory subunit 27 Neighboring gene prolyl 4-hydroxylase subunit beta Neighboring gene uncharacterized LOC124904086 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

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

Homology

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
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
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
PubMed 
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)

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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

  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
    P52565, Q6IBM5
    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, Q6IBM5
    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_125441.2 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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)