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Aliases for GNAI3 Gene

Aliases for GNAI3 Gene

  • G Protein Subunit Alpha I3 2 3
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Inhibiting Activity Polypeptide 3 2 3 5
  • G(I) Alpha-3 3 4
  • ARCND1 3
  • 87U6 3

External Ids for GNAI3 Gene

Previous GeneCards Identifiers for GNAI3 Gene

  • GC01P110570
  • GC01P109020
  • GC01P109193
  • GC01P109390
  • GC01P109803
  • GC01P110091
  • GC01P107983

Summaries for GNAI3 Gene

Entrez Gene Summary for GNAI3 Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]

GeneCards Summary for GNAI3 Gene

GNAI3 (G Protein Subunit Alpha I3) is a Protein Coding gene. Diseases associated with GNAI3 include auriculocondylar syndrome 1 and auriculo-condylar syndrome. Among its related pathways are cGMP-PKG signaling pathway and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAQ.

UniProtKB/Swiss-Prot for GNAI3 Gene

  • Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:8774883, PubMed:18434541, PubMed:19478087). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (PubMed:19478087). Stimulates the activity of receptor-regulated K(+) channels (PubMed:2535845). The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division (PubMed:17635935).

Tocris Summary for GNAI3 Gene

  • Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNAI3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNAI3 Gene

Genomics for GNAI3 Gene

Regulatory Elements for GNAI3 Gene

Enhancers for GNAI3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GNAI3 on UCSC Golden Path with GeneCards custom track

Promoters for GNAI3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GNAI3 on UCSC Golden Path with GeneCards custom track

Genomic Location for GNAI3 Gene

Chromosome:
1
Start:
109,548,564 bp from pter
End:
109,618,321 bp from pter
Size:
69,758 bases
Orientation:
Plus strand

Genomic View for GNAI3 Gene

Genes around GNAI3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNAI3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNAI3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNAI3 Gene

Proteins for GNAI3 Gene

  • Protein details for GNAI3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08754-GNAI3_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(k) subunit alpha
    Protein Accession:
    P08754
    Secondary Accessions:
    • P17539
    • Q5TZX1

    Protein attributes for GNAI3 Gene

    Size:
    354 amino acids
    Molecular mass:
    40532 Da
    Quaternary structure:
    • Heterotrimeric G proteins are composed of 3 units; alpha, beta and gamma. The alpha subunit contains the guanine nucleotide binding site. GTP binding causes dissociation of the heterotrimer, liberating the individual subunits so that they can interact with downstream effector proteins. Interacts with GPSM1 (By similarity). Interacts (GDP-bound form) with GPSM2 (via GoLoco domains) (PubMed:22952234). Does not interact with RGS2 (PubMed:19478087). Interacts with RGS8 and RGS10; this strongly enhances the intrinsic GTPase activity (PubMed:8774883, PubMed:18434541). Interacts with RGS16; this strongly enhances the intrinsic GTPase activity (PubMed:19478087). Interacts with RGS12 (By similarity). Interacts (via active GTP- or inactive GDP-bound form) with RGS14 (By similarity).

    Three dimensional structures from OCA and Proteopedia for GNAI3 Gene

neXtProt entry for GNAI3 Gene

Proteomics data for GNAI3 Gene at MOPED

Post-translational modifications for GNAI3 Gene

  • (Microbial infection) Deamidated at Gln-204 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA.
  • Ubiquitination at Lys 92, Lys 128, Lys 192, and Lys 349
  • Modification sites at PhosphoSitePlus

Other Protein References for GNAI3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GNAI3 Gene

Domains & Families for GNAI3 Gene

Graphical View of Domain Structure for InterPro Entry

P08754

UniProtKB/Swiss-Prot:

GNAI3_HUMAN :
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
Family:
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
genes like me logo Genes that share domains with GNAI3: view

No data available for Gene Families for GNAI3 Gene

Function for GNAI3 Gene

Molecular function for GNAI3 Gene

GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),alpha inhibiting activity,polypeptide 3
UniProtKB/Swiss-Prot Function:
Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:8774883, PubMed:18434541, PubMed:19478087). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (PubMed:19478087). Stimulates the activity of receptor-regulated K(+) channels (PubMed:2535845). The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division (PubMed:17635935).

Gene Ontology (GO) - Molecular Function for GNAI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IBA --
GO:0003924 GTPase activity IEA,TAS --
GO:0005515 protein binding IEA,IPI 18434541
GO:0019003 GDP binding IDA 19478087
GO:0031683 G-protein beta/gamma-subunit complex binding IEA,IBA --
genes like me logo Genes that share ontologies with GNAI3: view
genes like me logo Genes that share phenotypes with GNAI3: view

Human Phenotype Ontology for GNAI3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNAI3 Gene

MGI Knock Outs for GNAI3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GNAI3 Gene

Localization for GNAI3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNAI3 Gene

Cytoplasm. Cell membrane. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Membrane; Lipid-anchor. Note=Localizes in the centrosomes of interphase and mitotic cells. Detected at the cleavage furrow and/or the midbody. {ECO:0000269 PubMed:17635935}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNAI3 Gene COMPARTMENTS Subcellular localization image for GNAI3 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 3
golgi apparatus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GNAI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 17635935
GO:0005834 heterotrimeric G-protein complex IBA --
GO:0030496 midbody IDA 17635935
genes like me logo Genes that share ontologies with GNAI3: view

Pathways & Interactions for GNAI3 Gene

genes like me logo Genes that share pathways with GNAI3: view

SIGNOR curated interactions for GNAI3 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for GNAI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0006810 transport NAS 2452165
GO:0006906 vesicle fusion IEA --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with GNAI3: view

Drugs & Compounds for GNAI3 Gene

(3) Drugs for GNAI3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for GNAI3 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp7,9,10]-Substance P
89430-38-6
mastoparan
72093-21-1
Mastoparan X
72093-22-2
NF 023
104869-31-0
SCH 202676 hydrobromide
265980-25-4

(5) Tocris Compounds for GNAI3 Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
Mastoparan Activates Gi and Go 72093-21-1
Mastoparan X G protein activator peptide 72093-22-2
NF 023 Selective, competitive P2X1 antagonist 104869-31-0
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNAI3: view

Transcripts for GNAI3 Gene

mRNA/cDNA for GNAI3 Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(566) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GNAI3 Gene

Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GNAI3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: - - -
SP2: -
SP3: -
SP4:

Relevant External Links for GNAI3 Gene

GeneLoc Exon Structure for
GNAI3
ECgene alternative splicing isoforms for
GNAI3

Expression for GNAI3 Gene

mRNA expression in normal human tissues for GNAI3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GNAI3 Gene

This gene is overexpressed in Fetal Brain (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GNAI3 Gene



SOURCE GeneReport for Unigene cluster for GNAI3 Gene Hs.73799

genes like me logo Genes that share expression patterns with GNAI3: view

Protein tissue co-expression partners for GNAI3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GNAI3 Gene

Orthologs for GNAI3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GNAI3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GNAI3 35
  • 95.39 (n)
  • 98.87 (a)
GNAI3 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAI3 35
  • 96.05 (n)
  • 98.87 (a)
GNAI3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnai3 35
  • 93.5 (n)
  • 98.31 (a)
Gnai3 16
Gnai3 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNAI3 35
  • 99.62 (n)
  • 100 (a)
GNAI3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnai3 35
  • 92.47 (n)
  • 98.59 (a)
oppossum
(Monodelphis domestica)
Mammalia GNAI3 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNAI3 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNAI3 35
  • 81.07 (n)
  • 94.92 (a)
GNAI3 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNAI3 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnai3 35
  • 79 (n)
  • 93.5 (a)
zebrafish
(Danio rerio)
Actinopterygii gnai3 35
  • 77.87 (n)
  • 90.68 (a)
gnai3 36
  • 91 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta G-ialpha65A 37
  • 76 (a)
G-oalpha47A 37
  • 69 (a)
Galpha73B 37
  • 35 (a)
G-ialpha65A 36
  • 77 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea goa-1 37
  • 70 (a)
gpa-1 37
  • 44 (a)
gpa-10 37
  • 36 (a)
gpa-11 37
  • 40 (a)
gpa-14 37
  • 31 (a)
gpa-15 37
  • 43 (a)
gpa-2 37
  • 43 (a)
gpa-3 37
  • 51 (a)
gpa-4 37
  • 61 (a)
gpa-6 37
  • 38 (a)
gpa-7 37
  • 54 (a)
gpa-8 37
  • 39 (a)
gpa-9 37
  • 36 (a)
odr-3 37
  • 48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10341 36
  • 82 (a)
OneToMany
Species with no ortholog for GNAI3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNAI3 Gene

ENSEMBL:
Gene Tree for GNAI3 (if available)
TreeFam:
Gene Tree for GNAI3 (if available)

Paralogs for GNAI3 Gene

Paralogs for GNAI3 Gene

(19) SIMAP similar genes for GNAI3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GNAI3: view

Variants for GNAI3 Gene

Sequence variations from dbSNP and Humsavar for GNAI3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_068558 Auriculocondylar syndrome 1 (ARCND1)
rs3525 -- 109,594,224(+) TATTC(A/T)GTAAT utr-variant-3-prime
rs7371 -- 109,592,686(+) TTAAG(A/G)TTTTT utr-variant-3-prime
rs493821 -- 109,587,299(+) TACAA(A/G)GGTAA intron-variant
rs495562 -- 109,571,989(+) aggga(C/G)ccctg intron-variant

Variation tolerance for GNAI3 Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNAI3 Gene

HapMap Linkage Disequilibrium report
GNAI3
Human Gene Mutation Database (HGMD)
GNAI3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GNAI3 Gene

Disorders for GNAI3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GNAI3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
auriculocondylar syndrome 1
  • acs
auriculo-condylar syndrome
  • auriculocondylar syndrome
ankylosis
hormone producing pituitary cancer
  • growth hormone producing pituitary tumor
- elite association - COSMIC cancer census association via MalaCards
Search GNAI3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNAI3_HUMAN
  • Auriculocondylar syndrome 1 (ARCND1) [MIM:602483]: An autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. {ECO:0000269 PubMed:22560091}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GNAI3

Genetic Association Database (GAD)
GNAI3
Human Genome Epidemiology (HuGE) Navigator
GNAI3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNAI3
genes like me logo Genes that share disorders with GNAI3: view

No data available for Genatlas for GNAI3 Gene

Publications for GNAI3 Gene

  1. Molecular cloning of a new human G protein. Evidence for two Gi alpha-like protein families. (PMID: 3109953) Didsbury J.R. … Snyderman R. (FEBS Lett. 1987) 2 3 4 67
  2. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. (PMID: 25026904) Romanelli Tavares V.L. … Passos-Bueno M.R. (Eur. J. Hum. Genet. 2015) 3
  3. Requirement of GI+i1/3-Gab1 signaling complex for keratinocyte growth factor-induced PI3K-AKT-mTORC1 activation. (PMID: 25078664) Zhang Y.M. … Cao C. (J. Invest. Dermatol. 2015) 3
  4. GNAI3 inhibits tumor cell migration and invasion and is post-transcriptionally regulated by miR-222 in hepatocellular carcinoma. (PMID: 25444921) Zhang Y. … He X. (Cancer Lett. 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for GNAI3 Gene

Sources for GNAI3 Gene

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