GNAI1
Guanine nucleotide-binding protein G(i) subunit alpha-1
Also known as: GNAI1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P63096
- Gene
- GNAI1
- Ensembl
- ENSG00000127955
- Chromosome
- 7
- Canonical length
- 354 aa
- Protein class
- Cancer-related genes, Disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Golgi apparatus,Centriolar satellite,Centrosome,Basal body,Cytosol,Principal piece
OverviewNCBI Gene
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 this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Canonical amino-acid sequenceUniProt
354 residues, UniProt reviewed canonical sequence.
>P63096|GNAI1
1 MGCTLSAEDK AAVERSKMID RNLREDGEKA AREVKLLLLG AGESGKSTIV KQMKIIHEAG
61 YSEEECKQYK AVVYSNTIQS IIAIIRAMGR LKIDFGDSAR ADDARQLFVL AGAAEEGFMT
121 AELAGVIKRL WKDSGVQACF NRSREYQLND SAAYYLNDLD RIAQPNYIPT QQDVLRTRVK
181 TTGIVETHFT FKDLHFKMFD VGGQRSERKK WIHCFEGVTA IIFCVALSDY DLVLAEDEEM
241 NRMHESMKLF DSICNNKWFT DTSIILFLNK KDLFEEKIKK SPLTICYPEY AGSNTYEEAA
301 AYIQCQFEDL NKRKDTKEIY THFTCATDTK NVQFVFDAVT DVIIKNNLKD CGLFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GNAI1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 37 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 37 nTPM
- adipose tissue: 19 nTPM
- midbrain: 18 nTPM
- hippocampal formation: 17 nTPM
- skin: 15 nTPM
- cerebral cortex: 15 nTPM
Single-cell type
- oligodendrocytes: 506 nCPM
- basal keratinocytes: 317 nCPM
- suprabasal keratinocytes: 296 nCPM
- adipocytes: 281 nCPM
- syncytiotrophoblasts: 281 nCPM
- loop of henle epithelial cells: 253 nCPM
Immune cell
- NK-cell: 13 nTPM
- myeloid DC: 1.9 nTPM
- basophil: 1.3 nTPM
- naive CD4 T-cell: 1.1 nTPM
- non-classical monocyte: 1 nTPM
- naive CD8 T-cell: 0.5 nTPM
Brain region
- white matter: 77 nTPM
- medulla oblongata: 42 nTPM
- basal ganglia: 41 nTPM
- pons: 40 nTPM
- spinal cord: 35 nTPM
- cerebellum: 34 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GNAI1.
Disease | AllUniProt
Conditions GNAI1 is implicated in, by any mechanism.
- Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) MIM:619854
Disease | GeneticClinVar
20 pathogenic / likely-pathogenic of 149 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
- Neurodevelopmental disorder
- Neurodevelopmental abnormality
- Seizure
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.38
- gnomAD pLI
- 0.91
- gnomAD missense Z
- 2.63
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adenylate cyclase-activating G protein-coupled receptor signaling pathway
- adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
- adenylate cyclase-inhibiting serotonin receptor signaling pathway
- adenylate cyclase-modulating G protein-coupled receptor signaling pathway
- cell division
- cellular response to forskolin
- chemokine-mediated signaling pathway
- G protein-coupled receptor signaling pathway
- negative regulation of insulin secretion
- neuropeptide signaling pathway
- positive regulation of cholesterol biosynthetic process
- positive regulation of protein localization to cell cortex
- positive regulation of relaxation of smooth muscle
- regulation of mitotic spindle organization
- response to peptide hormone
- response to prostaglandin E
- T cell migration
Molecular functions
- adenylate cyclase inhibitor activity
- D2 dopamine receptor binding
- G protein activity
- G protein-coupled receptor binding
- G protein-coupled serotonin receptor binding
- G-protein beta/gamma-subunit complex binding
- GDP binding
- GTP binding
- GTPase activity
- magnesium ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GNAI1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GNAI1 as an antibody target. Whether an autoantibody or antibody against GNAI1 could matter depends on whether native GNAI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GNAI1 is annotated at the cell surface, where native GNAI1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GNAI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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