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FLASH GENE
Symbol GNAI3 contributors: mct/ - updated : 09-05-2014
HGNC name guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
HGNC id 4387
Corresponding disease
ACDS1 auriculo-condylar syndrome 1
Location 1p13.3      Physical location : 110.091.185 - 110.138.452
Synonym name guanine nucleotide-binding protein G(k) subunit alpha
Synonym symbol(s) GIA3, 87U6, G(i) alpha-3, FLJ26559
DNA
TYPE functioning gene
STRUCTURE 42.27 kb     9 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map pter - D1S1631 - D1S2759 - D1S248 - NGFB - D1S2809 - D1S221 - GNAI3 - GSTM5 - D1S457 - D1S2726 - D1S418 - D1S250 - D1S467 - D1S453 - D1S514 - D1S2696 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 4730 - 354 - 2007 16870394
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Skin/Tegumentskin   highly
Urinarybladder   highly
 kidney   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • GTPase domain made of three regions named switches 1, 2 and 3
  • including the sites for guanine nucleotide binding and effector interaction
  • an helical domain
  • HOMOLOGY
    Homologene
    FAMILY
  • G-alpha family
  • G(i/o/t/z) subfamily
  • CATEGORY regulatory , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    basic FUNCTION
  • alpha inhibiting activity
  • involved in hormonal regulation of adenylate cyclase and inhibiting the cyclase in response to beta-adrenergic stimuli
  • requirement in thymic homing and early T cell development
  • CCDC88A/GNAI3 coupling is essential for cell migration during wound healing, macrophage chemotaxis, and tumor cell migration
  • cellular target of receptor mimetic basic secretagogues that activate mast cell independently of IgE
  • PLCB4 and GNAI3 are core signaling molecules of the endothelin-1-distal-less homeobox 5 and 6 (EDN1-DLX5/DLX6) pathway
  • GNAI2, GNAI3 contribute to inflammation by redundant, overlapping, and GNAI-isoform-specific mechanism
  • GNAI2, GNAI3 are therefore critical for B cell chemoattractant receptor signaling and for normal B cell function
  • CCDC88A-GNAI3 signaling play crucial roles in regulating epithelial apicobasal polarity through the PAR complex
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • guanine nucleotide binding
  • interaction with RGS14 (selective interactions between GNAI1, GNAI3 and the GoLoco domain of RGS14 influence its dynamic subcellular localization)
  • CCDC88A is a GNAI3 binding partner
  • cellular target of the adenosine A3 receptor (A3R), a G-protein coupled receptor involved in inflammation and the pathophysiology of asthma
  • TNFAIP8L1, TNFAIP8L2 showed a very weak interaction with GNAI3
  • PARD3 physically interacts with CCDC88A, and together with GNAI3, CCDC88A controls tight junction formation, apical domain development and actin organization downstream of PARD3
  • cell & other
    REGULATION
    activated by IGFBP5 (endogenous IGFBP5 activates GNAI3 and regulates smooth muscle growth, IGF1 production, and collagen production via the alpha-subunit of GNAI3, independently of IGF1, in normal human intestinal muscle cells)
    ASSOCIATED DISORDERS
    corresponding disease(s) ACDS1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    hindered bone marrow cell development and thus reduced production of pre-thymic progenitors
    tumoral somatic mutation      
    in germinal centre B-cell
    constitutional     --low  
    absence of GNAI2 and GNAI3 in B cells profoundly disturbs the architecture of lymphoid organs with loss of B cell compartments in the spleen, thymus, lymph nodes, and gastrointestinal tract, resulting in a severe disruption of B cell function and a hyper-IgM like syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS