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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]
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 Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics and DAG and IP3 signaling. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is GNAI1.
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'.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0001664 | G protein-coupled receptor binding | IBA | 21873635 |
GO:0003924 | GTPase activity | TAS,IDA | 19478087 |
GO:0005515 | protein binding | IPI | 18434541 |
GO:0005525 | GTP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | colocalizes_with Golgi membrane | IDA | 12642577 |
GO:0005737 | cytoplasm | IEA,IDA | 17635935 |
GO:0005765 | lysosomal membrane | HDA | 17897319 |
GO:0005789 | colocalizes_with endoplasmic reticulum membrane | IDA | 12642577 |
GO:0005794 | Golgi apparatus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | ADP signalling through P2Y purinoceptor 12 |
Signal transduction cAMP signaling
.43
|
|
2 | G-Beta Gamma Signaling |
G-Beta Gamma Signaling
.46
GHRH Signaling
.46
CRHR Pathway
.44
|
Relaxin Pathway
.37
Hedgehog Signaling in Mammals
.32
Signaling in Gap Junctions
.30
|
3 | S1P3 pathway |
.44
.44
.41
|
.36
.01
|
4 | DAG and IP3 signaling |
Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling
.33
|
|
5 | Development Angiotensin activation of ERK |
Development ACM2 and ACM4 activation of ERK
.73
Development Angiotensin activation of ERK
.73
Development G-Proteins mediated regulation MARK-ERK signaling
.65
|
Development EDNRB signaling
.54
Cell adhesion Integrin inside-out signaling
.45
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006457 | protein folding | TAS | -- |
GO:0006906 | vesicle fusion | IEA | -- |
GO:0007049 | cell cycle | IEA | -- |
GO:0007165 | signal transduction | IEA | -- |
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
[D-Trp7,9,10]-Substance P |
|
89430-38-6 |
|
|
||
G-Protein antagonist peptide |
|
143675-79-0 |
|
|
||
Gue 1654 |
|
397290-30-1 |
|
|
||
mastoparan |
|
72093-21-1 |
|
|
||
SCH 202676 hydrobromide |
|
265980-25-4 |
|
|
Compound | Action | Cas Number |
---|---|---|
[D-Trp7,9,10]-Substance P | Inhibits M1 ACh receptor activation of Gq/11 | 89430-38-6 |
G-Protein antagonist peptide | Inhibits G protein activation by GPCRs | 143675-79-0 |
Gue 1654 | Selective inhibitor of OXE-R Gbetagamma signaling | 397290-30-1 |
Mastoparan | Activates Gi and Go | 72093-21-1 |
SCH 202676 hydrobromide | Inhibitor of ligand binding to G-protein-coupled receptors | 265980-25-4 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GNAI3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GNAI3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GNAI3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GNAI3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GNAI3 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gnai3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gnai3 30 |
|
||
Chicken (Gallus gallus) |
Aves | GNAI3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GNAI3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gnai3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gnai3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | G-ialpha65A 31 32 |
|
OneToMany | |
G-oalpha47A 32 |
|
|
|||
Galpha73B 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | goa-1 32 |
|
|
|
gpa-4 32 |
|
|
|||
gpa-7 32 |
|
|
|||
gpa-3 32 |
|
|
|||
odr-3 32 |
|
|
|||
gpa-1 32 |
|
|
|||
gpa-15 32 |
|
|
|||
gpa-2 32 |
|
|
|||
gpa-11 32 |
|
|
|||
gpa-8 32 |
|
|
|||
gpa-6 32 |
|
|
|||
gpa-9 32 |
|
|
|||
gpa-10 32 |
|
|
|||
gpa-14 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10341 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
718422 | Benign: not provided | 109,592,155(+) | G/A | SYNONYMOUS_VARIANT | |
725932 | Likely Benign: not provided | 109,582,484(+) | C/T | MISSENSE_VARIANT | |
740509 | Likely Benign: not provided | 109,574,003(+) | G/A | MISSENSE_VARIANT | |
rs1553223897 | Uncertain Significance: not specified | 109,573,758(+) | G/A | MISSENSE_VARIANT | |
rs1553223899 | Uncertain Significance: Auriculocondylar syndrome 1 | 109,573,764(+) | T/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
auriculocondylar syndrome 1 |
|
|
auriculo-condylar syndrome |
|
|
short-rib thoracic dysplasia 5 with or without polydactyly |
|
|
ankylosis |
|
|
ear malformation |
|
|