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GDI1 Gene

protein-coding   GIFtS: 67
GCID: GC0XP153665

GDP Dissociation Inhibitor 1


(Previous symbols: MRX48, MRX41, GDIL)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
GDP Dissociation Inhibitor 11 2     Mental Retardation1
GDIL1 2 3     Rab GDP-Dissociation Inhibitor1
MRX411 2 5     X-Linked 411
MRX481 2 5     X-Linked 481
Guanosine Diphosphate Dissociation Inhibitor 12 3     1A2
Protein XAP-42 3     XAP-42
Rab GDI Alpha2 3     Mental Retardation, X-Linked 482
GDI-12 3     oligophrenin-22
OPHN22 3     Rab GDP Dissociation Inhibitor Alpha2
RABGDIA2 3     Rab GDP-Dissociation Inhibitor, Alpha2
RABGD1A2 5     Oligophrenin-23
alpha1     XAP43

External Ids:    HGNC: 42261   Entrez Gene: 26642   Ensembl: ENSG000002038797   OMIM: 3001045   UniProtKB: P311503   

Export aliases for GDI1 gene to outside databases

Previous GC identifers: GC0XP147728 GC0XP150046 GC0XP151251 GC0XP152133 GC0XP153234 GC0XP153318 GC0XP142218


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GDI1 Gene:
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)

GeneCards Summary for GDI1 Gene:
GDI1 (GDP dissociation inhibitor 1) is a protein-coding gene. Diseases associated with GDI1 include tumor of exocrine pancreas, and mental retardation. GO annotations related to this gene include GDP-dissociation inhibitor activity and GTPase activator activity. An important paralog of this gene is CHML.

UniProtKB/Swiss-Prot: GDIA_HUMAN, P31150
Function: Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from
them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the
membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes

Gene Wiki entry for GDI1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the GDI1 gene promoter:
         CREB   deltaCREB   Nkx2-5   YY1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for GDI1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GDI1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

GDI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GDI1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153665:  view genomic region     (about GC identifiers)

Start:
153,665,259 bp from pter      End:
153,671,814 bp from pter
Size:
6,556 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GDIA_HUMAN, P31150 (See protein sequence)
Recommended Name: Rab GDP dissociation inhibitor alpha  
Size: 447 amino acids; 50583 Da
Subunit: Interacts with RHOH. Interacts with RAB1A, RAB3A, RAB5A and RAB10
Secondary accessions: P50394 Q6FG50 Q7Z2G6 Q7Z2G9 Q7Z2H5 Q7Z2I6

Explore the universe of human proteins at neXtProt for GDI1: NX_P31150

Explore proteomics data for GDI1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys54, Lys210, Lys221, Lys278, Lys435
  • Modification sites at PhosphoSitePlus

  • See GDI1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001484.1  
    ENSEMBL proteins: 
     ENSP00000394071   ENSP00000394752   ENSP00000416195   ENSP00000396215  
    Reactome Protein details: P31150

    GDI1 Human Recombinant Protein Products:

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    GDI1 Assay Products:

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    Cloud-Clone Corp. CLIAs for GDI1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000806 RabGDI
     IPR018203 GDP_dissociation_inhibitor

    Graphical View of Domain Structure for InterPro Entry P31150

    ProtoNet protein and cluster: P31150

    1 Blocks protein domain: IPB000806 Rab GDI protein signature

    UniProtKB/Swiss-Prot: GDIA_HUMAN, P31150
    Similarity: Belongs to the Rab GDI family


    GDI1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GDIA_HUMAN, P31150
    Function: Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from
    them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the
    membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes

         Genatlas biochemistry entry for GDI1:
    RhoA/Rab GDI (GDP-dissociation inhibitor) p155,23kDa,ligand for presenilin 1 (PSEN1),also expressed predominantly
    in neural and sensory tissues,involved in the regulation of vesicle-mediated cellular transport,also in neuronal
    differentiation and brain development (signal transduction)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005092GDP-dissociation inhibitor activity TAS7849400
    GO:0005093Rab GDP-dissociation inhibitor activity ISS--
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding IPI11809807
    GO:0017137Rab GTPase binding IEA--
         
    GDI1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GDI1:
     Decreased focal adhesion (FA)  

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gdi1):
     behavior/neurological  homeostasis/metabolism  nervous system  taste/olfaction 

    GDI1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gdi1tm1Ytk for GDI1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GDI1
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    miRNA
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    hsa-mir-222-3p (MIRT046698), hsa-mir-34a-5p (MIRT025345), hsa-mir-26b-5p (MIRT029357)

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    Selected qRT-PCR Assays for microRNAs that regulate GDI1 (see all 35):
    hsa-miR-1224-3p hsa-miR-1260b hsa-miR-486-3p hsa-miR-218 hsa-miR-298 hsa-miR-133a hsa-miR-296-5p hsa-miR-642b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDI1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GDIA_HUMAN, P31150: Cytoplasm. Golgi apparatus, trans-Golgi network
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol TAS--
    GO:0030496midbody IDA15166316
    GO:0043005neuron projection IEA--

    GDI1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GDI1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    Transport Clathrin coated vesicle cycle0.66
    2Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    3Signaling by GPCR
    Signal Transduction0.58
    4Signaling mediated by p38-alpha and p38-beta
    Signaling mediated by p38-alpha and p38-beta
    5Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for GDI1
        Transport Clathrin-coated vesicle cycle

    2 BioSystems Pathways for GDI1
        Integrated Breast Cancer Pathway
    Signaling mediated by p38-alpha and p38-beta


    1 Reactome Pathway for GDI1
        Rho GTPase cycle



    GDI1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GDI1
    Interactions:

        GeneGlobe Interaction Network for GDI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GDI1 (P311501, 2, 3 ENSP000003940714) via UniProtKB, MINT, STRING, and/or I2D (see all 156)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TK1P041832, 3MINT-8273488 I2D: score=2 
    GNL1P369153, ENSP000003658064I2D: score=1 STRING: ENSP00000365806
    ENSG00000206492P369153I2D: score=1 
    ENSG00000226882P369153I2D: score=1 
    ENSG00000228581P369153I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS7543319
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0015031protein transport IEA--
    GO:0032482Rab protein signal transduction ISS--
    GO:0050771negative regulation of axonogenesis ISS--

    GDI1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GDI1 (GDIA)

    2 HMDB Compounds for GDI1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 DrugBank Compound for GDI1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Geran-8-Yl Geran-- --target--17139284 17016423 10592235

    4 Novoseek inferred chemical compound relationships for GDI1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 83.9 9 8141770 (3), 7512369 (1), 7513052 (1), 11967128 (1) (see all 7)
    gtp 67.1 4 10676816 (1), 8356058 (1), 8141770 (1), 11967128 (1)
    nadph 26.4 2 8141770 (2)
    superoxide 0 1 8141770 (1)



    GDI1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GDI1 gene: 
    NM_001493.2  

    Unigene Clusters for GDI1:

    GDP dissociation inhibitor 1
    Hs.74576  [show with all ESTs], Hs.595950  [show with all ESTs]
    Unigene Representative Sequences: NM_001493, BE797584
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000447750(uc004fli.4 uc004flj.3) ENST00000475976 ENST00000445564
    ENST00000434049 ENST00000415109 ENST00000481304 ENST00000485143 ENST00000491154(uc011mzo.1)
    ENST00000489589 ENST00000471972 ENST00000468483 ENST00000476540 ENST00000465640
    ENST00000460984

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    hsa-miR-1224-3p hsa-miR-1260b hsa-miR-486-3p hsa-miR-218 hsa-miR-298 hsa-miR-133a hsa-miR-296-5p hsa-miR-642b
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    Additional mRNA sequence: 

    EF212247.1 EF212248.1 

    Selected DOTS entries (see all 53):

    DT.100888319  DT.100888307  DT.92458110  DT.100888312  DT.99952231  DT.121294752  DT.121293932  DT.121294624 
    DT.92458119  DT.95212016  DT.121294025  DT.121294343  DT.121294311  DT.121294643  DT.100038377  DT.92458121 
    DT.95212057  DT.121293638  DT.121293862  DT.121294067  DT.95212067  DT.121293958  DT.95212070  DT.121293633 

    Selected AceView cDNA sequences (see all 442):

    BU169862 CK824109 BX460654 AI873939 AW516808 CN479636 AI536996 AA947636 
    AI146853 AW264885 BM712118 BE327367 BQ881870 AI131424 AA434450 BF874319 
    X74608 R32141 AA569213 CA395075 BF447960 BX110973 CA432220 BQ640664 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GDI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTTCCTTT
    GDI1 Expression
    About this image

    GDI1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GDI1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.74576 Hs.595950

    UniProtKB/Swiss-Prot: GDIA_HUMAN, P31150
    Tissue specificity: Brain; predominant in neural and sensory tissues

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDI1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GDI1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gdi11 , 5 guanosine diphosphate (GDP) dissociation inhibitor more1, 5 90.83(n)1
    97.99(a)1
      X (37.97 cM)5
    145671  NM_010273.41  NP_034403.11 
     743049985 
    lizard
    (Anolis carolinensis)
    Reptilia GDI16
    GDP dissociation inhibitor 1
    90(a)
    1 ↔ 1
    GL344369.1(14614-32587)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gdi11 GDP dissociation inhibitor 1 80.61(n)
    92.84(a)
      101731892  XM_004919645.1  XP_004919702.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc09e022 wufc09e02 79.3(n)   323765  AY391428.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gdi1 , 3 neurotransmitter secretion
    GDP-dissociation inhibitor3
    GDP dissociation inhibitor1
    68(a)3
    66.74(n)1
    68.11(a)1
      30B83
    342641  NM_001259024.21  NP_001245953.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gdi-11 , 3 GDI-1 GDP dissociation inhibitor3
    gdi-11
    65(a)3
    63.67(n)1
    66.36(a)1
      IV(14791300-14793012)3
    1784021  NM_001047579.31  NP_001041044.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GDI11 GDI1 56(n)
    56.47(a)
      856876   NP_011062.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GDI21 GDI2 59.22(n)
    57.67(a)
      825162  NM_115855.3  NP_191551.1 
    rice
    (Oryza sativa)
    Liliopsida AK066648.12   -- 71.27(n)    AK066648.1 


    ENSEMBL Gene Tree for GDI1 (if available)
    TreeFam Gene Tree for GDI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GDI1 gene
    CHML2  CHM2  GDI22  
    1 SIMAP similar gene for GDI1 using alignment to 5 protein entries:     GDIA_HUMAN (see all proteins):
    GDI2

    GDI1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GDI1 (see all 125)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0081314
    Mental retardation, X-linked 41 (MRX41)4--see VAR_0081312 R P mis40--------
    VAR_0081304
    Mental retardation, X-linked 41 (MRX41)4--see VAR_0081302 L P mis40--------
    rs1921158451,2
    --153665539(+) GGCGGC/GGGCGA 2 -- ut510--------
    rs2014633671,2
    C--153665571(+) AGGAGC/TCGAGC 2 -- ut510--------
    rs1839531771,2
    --153665579(+) AGCGGA/GCGCTG 2 -- ut510--------
    rs2006453581,2
    --153665589(+) GGCACC/TGAGGC 2 -- ut510--------
    rs1877047981,2
    --153665789(+) CTGCTC/TCCCCA 2 -- int10--------
    rs1895780671,2
    C--153665794(+) CCCCCA/CGCGAC 2 -- int10--------
    rs1826069751,2
    C--153665860(+) CGCCTC/TCTGGG 2 -- int10--------
    rs1868353021,2
    C--153666022(+) CCGCCC/TAGCGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for GDI1 (153665259 - 153671814 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GDI1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519042CNV Gain19592680
    esv33199CNV Gain+Loss17666407
    esv33784CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): GDI1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GDI1
    DNA2.0 Custom Variant and Variant Library Synthesis for GDI1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300104   
    OMIM disorders: 300849  
    UniProtKB/Swiss-Prot: GDIA_HUMAN, P31150
  • Mental retardation, X-linked 41 (MRX41) [MIM:300849]: A disorder characterized by significantly below
    average general intellectual functioning associated with impairments in adaptive behavior and manifested during
    the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental
    retardation, while syndromic mental retardation presents with associated physical, neurological and/or
    psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for GDI1 (see all 21):    About MalaCards
    tumor of exocrine pancreas    mental retardation    choroideremia    mental retardation, x-linked
    mental retardation, x-linked 17/31, microduplication    rett syndrome    t cell deficiency    keratitis
    intellectual disability    choroiditis    neuroblastoma    schizophrenia
    ataxia    ovarian cancer    alzheimer's disease    colorectal cancer
    breast cancer    multiple myeloma    myeloma    malaria

    2 diseases from the University of Copenhagen DISEASES database for GDI1:
    Intellectual disability     Tumor of exocrine pancreas

    GDI1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for GDI1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 62.2 6 9620768 (2), 12810981 (1), 18829665 (1), 12624134 (1) (see all 5)
    tumors 0 3 18651761 (3)

    Genetic Association Database (GAD): GDI1
    Human Genome Epidemiology (HuGE) Navigator: GDI1 (1 document)

    Export disorders for GDI1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GDI1 gene, integrated from 10 sources (see all 108):
    (articles sorted by number of sources associating them with GDI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression patterns of two human genes coding for different rab GDP- dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport. (PubMed id 7543319)1, 2, 3 Bachner D.... Poustka A. (Hum. Mol. Genet. 1995)
    2. Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI). (PubMed id 7849400)1, 2, 3 Sedlacek Z.... Poustka A. (Mamm. Genome 1994)
    3. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. (PubMed id 9620768)1, 2, 9 D'Adamo P.... Toniolo D. (Nat. Genet. 1998)
    4. Cloning of a brain-type isoform of human Rab GDI and its expression in human neuroblastoma cell lines and tumor specimens. (PubMed id 7585614)1, 2, 9 Nishimura N.... Sano K. (Cancer Res. 1995)
    5. GDI-1 preferably interacts with Rab10 in insulin-stimulated GLUT4 translocation. (PubMed id 19570034)1, 2 Chen Y.... Xu T. (Biochem. J. 2009)
    6. [Relationship between the polymorphisms of GDI1, children NSMR and their intelligence in Qinba region]. (PubMed id 18487148)1, 4 Zhang K.J....Zhang F.C. (Yi Chuan 2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. (PubMed id 12777533)1, 2 Kitano T.... Paeaebo S. (Mol. Biol. Evol. 2003)
    9. The hematopoiesis-specific GTP-binding protein RhoH is GTPase deficient and modulates activities of other Rho GTPases by an inhibitory function. (PubMed id 11809807)1, 2 Li X.... Lim B. (Mol. Cell. Biol. 2002)
    10. Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. (PubMed id 9668174)1, 2 Bienvenu T....Chelly J. (Hum. Mol. Genet. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2664 HGNC: 4226 AceView: GDI1 Ensembl:ENSG00000203879 euGenes: HUgn2664
    ECgene: GDI1 H-InvDB: GDI1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GDI1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MRX3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GDI1 gene:
    Search GeneIP for patents involving GDI1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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