Gene Gene information from NCBI Gene database.
Entrez ID 2770
Gene name G protein subunit alpha i1
Gene symbol GNAI1
Synonyms (NCBI Gene)
GiHG1BNEDHISB
Chromosome 7
Chromosome location 7q21.11
Summary Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by
miRNA miRNA information provided by mirtarbase database.
334
miRTarBase ID miRNA Experiments Reference
MIRT021108 hsa-miR-186-5p Sequencing 20371350
MIRT023552 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT054488 hsa-miR-320a Luciferase reporter assayWestern blotImmunohistochemical (IHC) staining 23691483
MIRT054489 hsa-miR-320c Luciferase reporter assayWestern blotImmunohistochemical (IHC) staining 23691483
MIRT054490 hsa-miR-320d Luciferase reporter assayWestern blotImmunohistochemical (IHC) staining 23691483
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
79
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding ISS
GO:0001664 Function G protein-coupled receptor binding ISS
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 8774883
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139310 4384 ENSG00000127955
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P63096
Protein name Guanine nucleotide-binding protein G(i) subunit alpha-1 (EC 3.6.5.-) (Adenylate cyclase-inhibiting G alpha protein)
Protein function Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:18434541, PubMed:33762731, PubMed:34239069, PubMed:35610220, PubMed:37935376, PubMe
PDB 1KJY , 1Y3A , 2G83 , 2GTP , 2IK8 , 2OM2 , 2XNS , 3ONW , 3QE0 , 3QI2 , 3UMR , 3UMS , 4G5Q , 5JS7 , 5JS8 , 5TDH , 6CMO , 6CRK , 6DDE , 6DDF , 6KPF , 6KPG , 6LFM , 6LFO , 6LML , 6N4B , 6OMM , 6OS9 , 6OSA , 6OT0 , 6PB0 , 6PB1 , 6PT0 , 6QNO , 6VU8 , 6XBJ , 6XBK , 6XBL , 6XBM , 7CMU , 7CMV , 7DB6 , 7DW9 , 7E2X , 7E2Y , 7E2Z , 7E32 , 7E33 , 7E9G , 7EB2 , 7EJX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00503 G-alpha 13 343 G-protein alpha subunit Domain
Sequence
Sequence length 354
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental abnormality Likely pathogenic rs1787388036 RCV001264620
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Likely pathogenic rs1788434338 RCV001095673
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities Pathogenic; Likely pathogenic rs1788864590, rs2115712706, rs2115683966, rs2116052322, rs2115727431, rs2115712676, rs2115712712, rs1788863320, rs2115631937, rs1788436294, rs1788434338 RCV002246432
RCV004762190
RCV004594596
RCV002249061
RCV002248390
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure Likely pathogenic rs1788434297 RCV001526691
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMNESIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMNESTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 22982105 Associate
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia CTD_human_DG 11350863
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety Anxiety disorder Pubtator 28969474 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 36959563 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 25918132
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asymmetric Septal Hypertrophy Septal Hypertrophy BEFREE 29307797
★☆☆☆☆
Found in Text Mining only
Blood Platelet Disorders Platelet disorder Pubtator 35296084 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 34685729 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23591873 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 29307797, 29693178 Associate
★☆☆☆☆
Found in Text Mining only