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    GDI1 GDP dissociation inhibitor 1 [ Homo sapiens (human) ]

    Gene ID: 2664, updated on 22-Sep-2016
    Official Symbol
    GDI1provided by HGNC
    Official Full Name
    GDP dissociation inhibitor 1provided by HGNC
    Primary source
    HGNC:HGNC:4226
    See related
    Ensembl:ENSG00000203879 HPRD:02114; MIM:300104; Vega:OTTHUMG00000033293
    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
    1A; GDIL; MRX41; MRX48; OPHN2; XAP-4; RABGD1A; RABGDIA
    Summary
    GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific mental retardation. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (154436913..154443467)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153665259..153671814)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized protein BC009467 Neighboring gene ATPase H+ transporting accessory protein 1 Neighboring gene family with sequence similarity 50 member A Neighboring gene microRNA 6858 Neighboring gene plexin A3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    X-Linked Mental Retardation 41
    MedGen: CN069590 OMIM: 300849 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2011-11-07)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated (2011-11-07)

    ClinGen Genome Curation PagePubMed
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Signaling mediated by p38-alpha and p38-beta, organism-specific biosystem (from Pathway Interaction Database)
      Signaling mediated by p38-alpha and p38-beta, organism-specific biosystem
      Signaling mediated by p38-alpha and p38-beta
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ41411

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GDP-dissociation inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Rab GDP-dissociation inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Rab GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Rab protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of protein targeting to membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    response to calcium ion IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    protein complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    rab GDP dissociation inhibitor alpha
    Names
    GDI-1
    guanosine diphosphate dissociation inhibitor 1
    mental retardation, X-linked 48
    oligophrenin-2
    protein XAP-4
    rab GDI alpha
    rab GDP-dissociation inhibitor, alpha
    testis secretory sperm-binding protein Li 208a

    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_008954.1 RefSeqGene

      Range
      5001..11556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001493.2NP_001484.1  rab GDP dissociation inhibitor alpha

      See identical proteins and their annotated locations for NP_001484.1

      Status: REVIEWED

      Source sequence(s)
      BC000317, DA133083, DB005169
      Consensus CDS
      CCDS35452.1
      UniProtKB/Swiss-Prot
      P31150
      UniProtKB/TrEMBL
      A0A0S2Z3X8
      Related
      ENSP00000394071, OTTHUMP00000032118, ENST00000447750, OTTHUMT00000081649
      Conserved Domains (1) summary
      pfam00996
      Location:1436
      GDI; GDP dissociation inhibitor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      154436913..154443467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      153576897..153583451
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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