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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
36
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental abnormality Likely pathogenic rs1787388036 RCV001264620
Neurodevelopmental disorder Likely pathogenic rs1788434338 RCV001095673
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
RCV002248391
RCV002248392
RCV003142268
RCV003222501
RCV003990671
RCV002249684
Seizure Likely pathogenic rs1788434297 RCV001526691
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Uncertain significance rs2484312862 RCV003764446
GNAI1 associated Neurodevelopmental disorder Uncertain significance rs1277446306 RCV002276505
GNAI1-related disorder Benign; Uncertain significance; Likely benign rs10241877, rs2115631937, rs200492705, rs758057840, rs140693023, rs140625096, rs752711696, rs12721454 RCV004542077
RCV001823048
RCV004542493
RCV004532038
RCV004542362
RCV004543977
RCV004532018
RCV004540898
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcoholism Associate 35164291
Alzheimer Disease Associate 22982105
Anxiety Associate 28969474
Aortic Dissection Associate 36959563
Blood Platelet Disorders Associate 35296084
Brain Diseases Associate 34685729
Breast Neoplasms Associate 23591873
Carcinogenesis Associate 29307797, 29693178
Carcinoma Hepatocellular Associate 9362361
Carcinoma Renal Cell Associate 26043775