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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006496 9 - 4730 NP_006487 - 354 - 2007 16870394

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Skin/Tegument skin       highly Urinary bladder       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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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