GNB1
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
Also known as: GBB1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P62873
- Gene
- GNB1
- Ensembl
- ENSG00000078369
- Chromosome
- 1
- Canonical length
- 340 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, RAS pathway related proteins, Transporters
- Subcellular location
- Golgi apparatus,Plasma membrane
OverviewNCBI Gene
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Canonical amino-acid sequenceUniProt
340 residues, UniProt reviewed canonical sequence.
>P62873|GNB1
1 MSELDQLRQE AEQLKNQIRD ARKACADATL SQITNNIDPV GRIQMRTRRT LRGHLAKIYA
61 MHWGTDSRLL VSASQDGKLI IWDSYTTNKV HAIPLRSSWV MTCAYAPSGN YVACGGLDNI
121 CSIYNLKTRE GNVRVSRELA GHTGYLSCCR FLDDNQIVTS SGDTTCALWD IETGQQTTTF
181 TGHTGDVMSL SLAPDTRLFV SGACDASAKL WDVREGMCRQ TFTGHESDIN AICFFPNGNA
241 FATGSDDATC RLFDLRADQE LMTYSHDNII CGITSVSFSK SGRLLLAGYD DFNCNVWDAL
301 KADRAGVLAG HDNRVSCLGV TDDGMAVATG SWDSFLKIWNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GNB1 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)
- 0.24
- Highest tissue expression
- 2,147 nTPM
Expression across tissuesHPA
Tissue
- retina: 2,147 nTPM
- cerebral cortex: 311 nTPM
- amygdala: 222 nTPM
- basal ganglia: 207 nTPM
- small intestine: 198 nTPM
- cerebellum: 196 nTPM
Single-cell type
- rod photoreceptor cells: 2,098 nCPM
- neutrophils: 1,581 nCPM
- neutrophil progenitors: 618 nCPM
- monocytes: 605 nCPM
- monocyte progenitors: 439 nCPM
- thymocytes: 428 nCPM
Immune cell
- plasmacytoid DC: 23 nTPM
- neutrophil: 22 nTPM
- eosinophil: 20 nTPM
- non-classical monocyte: 16 nTPM
- intermediate monocyte: 16 nTPM
- classical monocyte: 14 nTPM
Brain region
- cerebral cortex: 504 nTPM
- basal ganglia: 441 nTPM
- white matter: 436 nTPM
- hypothalamus: 389 nTPM
- pons: 385 nTPM
- hippocampal formation: 380 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GNB1.
Disease | AllUniProt
Conditions GNB1 is implicated in, by any mechanism.
- Intellectual developmental disorder, autosomal dominant 42 (MRD42) MIM:616973
Disease | GeneticClinVar
59 pathogenic / likely-pathogenic of 395 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual disability, autosomal dominant 42
- Hypotonia
- Seizure
- Inborn genetic diseases
- Neurodevelopmental Disability
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)
- 0.14
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.83
- DepMap mean gene effect
- -0.17
- 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 dopamine receptor signaling pathway
- cell population proliferation
- cellular response to catecholamine stimulus
- cellular response to prostaglandin E stimulus
- G protein-coupled acetylcholine receptor signaling pathway
- G protein-coupled receptor signaling pathway
- phospholipase C-activating G protein-coupled receptor signaling pathway
- Ras protein signal transduction
- retina development in camera-type eye
- sensory perception of taste
- signal transduction
Molecular functions
- GTPase activity
- GTPase binding
- protein-containing complex binding
- signaling receptor complex adaptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GNB1 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 GNB1 as an antibody target. Whether an autoantibody or antibody against GNB1 could matter depends on whether native GNB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GNB1 is annotated at the cell surface, where native GNB1 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 GNB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...