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FLASH GENE
Symbol GDI1 contributors: mct - updated : 16-10-2017
HGNC name GDP dissociation inhibitor 1
HGNC id 4226
Corresponding disease
DUPXQ28 chromosome Xq28 (MECP2) duplication
MRX41 mental retardation, 41
MRX48 mental retardation, 48
Location Xq28      Physical location : 153.665.258 - 153.671.812
Synonym name
  • oligophrenin 2
  • rab GDP-dissociation inhibitor, alpha
  • guanosine diphosphate dissociation inhibitor 1
  • Synonym symbol(s) GDI1A, GDIL, RGDI2, RHOGDI, XAP4, RABGDIA, OPHN2, RABGD1A, FLJ41411, RABGDI, 1A, , MRX41, MRX48, XAP-4
    DNA
    TYPE functioning gene
    STRUCTURE 6.56 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see FLNA , L1CAM
    Physical map
    OPN1LW Xq28 opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) OPN1MW Xq28 opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) CXorf2 Xq28 chromosome X open reading frame 2 TKTL1 Xq28 transketolase-like 1 FLNA Xq28 filamin A, alpha (actin binding protein 280) EMD Xq28 emerin (Emery-Dreifuss muscular dystrophy) RPL10 Xq28 ribosomal protein L10 DNASE1L1 Xq28 deoxyribonuclease I-like 1 TAZ Xq28 tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) ATP6AP1 Xq28 ATPase, H+ transporting, lysosomal accessory protein 1 GDI1 Xq28 GDP dissociation inhibitor 1 DXS9928E Xq28 DNA segment on chromosome X (unique) 9928 expressed sequence PLXN3 Xq28 likely ortholog of mouse plexin 3 DXS9879E Xq28 DNA segment on chromosome X (unique) 9879 expressed sequence UBL4 Xq28 ubiquitin-like 4 SLC10A3 Xq28 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 FAM3A Xq28 family with sequence similarity 3, member A G6PD Xq28 glucose-6-phosphate dehydrogenase IKBKG Xq28 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma SPCX Xq28 SPCX LAGE2A  cancer/testis antigen 1-A CTAG1 Xq28 cancer/testis antigen 1 LOC340600 Xq28 cyclic-AMP-dependent transcription factor ATF-4 pseudogene deltaNEMO Xq28 deltaNEMO CTAG2 Xq28 cancer/testis antigen 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2505 - 447 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Gdi1 (98.0pc)
    homolog to rattus Gdi1 (98.7pc)
    Homologene
    FAMILY
  • Rab GDI family
  • CATEGORY regulatory , signaling neurotransmitter , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • involved in the regulation of vesicle-mediated cellular transport
  • involved in the regulation of neuronal differentiation and brain development (signal transduction)
  • regulating intracellular vesicle transport
  • 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
  • GDI1 functions in the anchor cell (AC) to promote invadopodia formation
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS development , cellular trafficking transport
    text intracellular vesicle transport
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • component of the switching mechanism that is required for commissural axons to change their response from attraction to repulsion at the intermediate target
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ligand for presenilin 1 (PSEN1)
  • interacts with RAB10 in insulin-stimulated SLC2A4 translocation (Chen 2009)
  • interacting with RAC1 and involved in its inhibition (Papaharalambus 2005)
  • controls axonal midline crossing by regulating ROBO1 surface expression
  • GDI1 efficiently extracts RAC1 from liposomes preferentially in the inactive GDP-bound state
  • GDI1, PACSIN1, and DPYSL2 interact with not only phosphatidic acid (PA) but also with other phospholipids
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRX41 , MRX48 , DUPXQ28
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    overexpressed in some ovarian cancers which are paclitaxel resistant (Goto 2006)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveovary
    predictive marker for paclitaxel resistance in the treatment of ovarian cancers
    ANIMAL & CELL MODELS
  • Gdi1-null mice are impaired in attention and associative learning processes, which are a key part of the cognitive impairment observed in XLID patients