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

    Gene ID: 2664, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GDI1provided by HGNC
    Official Full Name
    GDP dissociation inhibitor 1provided by HGNC
    Primary source
    HGNC:HGNC:4226
    See related
    Ensembl:ENSG00000203879 MIM:300104; AllianceGenome:HGNC:4226
    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; XLID41; 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 cognitive disability. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 222.9), adrenal (RPKM 45.3) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GDI1 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154437154..154443467)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152673662..152679975)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153665500..153671814)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATP6AP1 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153656739-153657240 Neighboring gene ATPase H+ transporting accessory protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153665032-153665532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153666887-153667386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153672115-153672682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153673251-153673818 Neighboring gene family with sequence similarity 50 member A Neighboring gene microRNA 6858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30062 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153687524-153688076 Neighboring gene plexin A3 Neighboring gene Sharpr-MPRA regulatory region 3405 Neighboring gene L antigen family member 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A gene for dominant nonspecific X-linked mental retardation is located in Xq28. des Portes V, et al. Am J Hum Genet, 1997 Apr. PMID 9106537, Free PMC Article
    2. RabGDI controls axonal midline crossing by regulating Robo1 surface expression. Philipp M, et al. Neural Dev, 2012 Nov 9. PMID 23140504, Free PMC Article
    3. Overexpression of GDP dissociation inhibitor 1 gene associates with the invasiveness and poor outcomes of colorectal cancer. Xie X, et al. Bioengineered, 2021 Dec. PMID 34515625, Free PMC Article
    4. Mutations in GDI1 and X-linked non-specific mental retardation. Dell'Amico MC, et al. Ann Ig, 2011 Jan-Feb. PMID 21736009
    5. [Relationship between the polymorphisms of GDI1, children NSMR and their intelligence in Qinba region]. Zhang KJ, et al. Yi Chuan, 2008 May. PMID 18487148

    See all (120) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GDP dissociation inhibitor 1 (GDI1) attenuates beta-amyloid-induced neurotoxicity in Alzheimer's diseases.
      Title: GDP dissociation inhibitor 1 (GDI1) attenuates β-amyloid-induced neurotoxicity in Alzheimer's diseases.
    2. Overexpression of GDP dissociation inhibitor 1 gene associates with the invasiveness and poor outcomes of colorectal cancer.
      Title: Overexpression of GDP dissociation inhibitor 1 gene associates with the invasiveness and poor outcomes of colorectal cancer.
    3. The interplay of Rac1 activity, ubiquitination and GDI binding and its consequences for endothelial cell spreading.
      Title: The interplay of Rac1 activity, ubiquitination and GDI binding and its consequences for endothelial cell spreading.
    4. Data confirm isolated adrenocorticotropin deficiency (IAD) as autoimmune disease; RABGDIA (human, human recombinant, or rat) exhibits characteristics of autoantigen in anterior pituitary; patients with IAD exhibit autoantibodies against RABGDIA.
      Title: Identification of the novel autoantigen candidate Rab GDP dissociation inhibitor alpha in isolated adrenocorticotropin deficiency.
    5. Human oligodendrogliomas cells stably expressing mutant GDI1 showed altered cell proliferation.
      Title: Tumor-specific mutations in low-frequency genes affect their functional properties.
    6. The results of this study identified RabGDI as a component of the switching mechanism that is required for commissural axons to change their response from attraction to repulsion at the intermediate target
      Title: RabGDI controls axonal midline crossing by regulating Robo1 surface expression.
    7. GDI1 mutations cause an unspecific phenotype characterized by cognitive deficits of variable degree in males, and to a lesser degree in female carriers.
      Title: Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.
    8. The mutations in this gene are common and do not seem to influence the gene expression so as to cause a change in phenotype.
      Title: Mutations in GDI1 and X-linked non-specific mental retardation.
    9. A model by which mutant PrP induces overexpression of GDI, activating a cytotoxic feedback loop that leads to protein accumulation in the secretory pathway.
      Title: Mutant prion protein expression is associated with an alteration of the Rab GDP dissociation inhibitor alpha (GDI)/Rab11 pathway.
    10. This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia
      Title: Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual disability, X-linked 41
    MedGen: C3887939 OMIM: 300849 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-06-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2022-06-22)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41411

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP-dissociation inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables Rab GDP-dissociation inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables Rab GDP-dissociation inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Rab protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of protein targeting to membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of axon extension IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of toll-like receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to calcium ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in myelin sheath IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in presynaptic cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rab GDP dissociation inhibitor alpha
    Names
    GDI-1
    guanosine diphosphate dissociation inhibitor 1
    oligophrenin-2
    protein XAP-4
    rab GDI alpha
    rab GDP-dissociation inhibitor, alpha
    testis secretory sperm-binding protein Li 208a

    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_008954.2 RefSeqGene

      Range
      5002..11315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001493.3 → NP_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
      Consensus CDS
      CCDS35452.1
      UniProtKB/Swiss-Prot
      P31150, P50394, Q6FG50, Q7Z2G6, Q7Z2G9, Q7Z2H5, Q7Z2I6
      UniProtKB/TrEMBL
      A0A0S2Z3X8, B4DHX4, E7EX02
      Related
      ENSP00000394071.2, ENST00000447750.7
      Conserved Domains (1) summary
      pfam00996
      Location:1 → 436
      GDI; GDP dissociation inhibitor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      154437154..154443467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152673662..152679975
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P31150.2 GenPept UniProtKB/Swiss-Prot:P31150

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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