ADORA1 adenosine A1 receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADORA1provided by HGNC
Official Full Name: adenosine A1 receptorprovided by HGNC
Primary source: HGNC:HGNC:262
See related: Ensembl:ENSG00000163485 MIM:102775; Vega:OTTHUMG00000042125
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RDC7
Summary: The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 15.5), testis (RPKM 10.4) and 8 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 1q32.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	1	NC_000001.11 (203127705..203167405)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (203096833..203136533)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Data suggested that adenosine A1 receptor might potentiate glycinergic transmission through Galphai/PKA/alpha3 and Gbetagamma/alpha1ins pathways in inflamed rat.
Title: Adenosine A1 receptor potentiated glycinergic transmission in spinal cord dorsal horn of rats after peripheral inflammation.
Elevated A1 adenosine receptor is associated with sleep deprivation.
Title: Recovery sleep after extended wakefulness restores elevated A1 adenosine receptor availability in the human brain.
Mutation in ADORA1 may be associated with early-onset parkinsonism and cognitive dysfunction.
Title: Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction.
Inhibition of cholinergic neurotransmission by beta3-adrenoceptors results from adenosine release via equilibrative nucleoside transporters and prejunctional A1-receptor stimulation in urinary bladder.
Title: Inhibition of cholinergic neurotransmission by β3-adrenoceptors depends on adenosine release and A1-receptor activation in human and rat urinary bladders.
This study showed that increased neuronal A1R expression in Rasmussen Encephalitis may be involved in prevention of seizures spread and seizures-induced damage, limitation of both seizures and inflammation atrophy in 1 cerebral hemisphere.
Title: Upregulation of Neuronal Adenosine A1 Receptor in Human Rasmussen Encephalitis.
A1R signaling enhances A2AR-mediated neurodegeneration [review]
Title: Adenosine A1 and A2A Receptors in the Brain: Current Research and Their Role in Neurodegeneration.
Mutational and computational analysis of A1-AR revealed a distinct conformation of the second extracellular loop and a wider extracellular cavity with a secondary binding pocket that can accommodate orthosteric and allosteric ligands.
Title: Structure of the Adenosine A1 Receptor Reveals the Basis for Subtype Selectivity.
this study highlights a key role for extracellular loop 2 in A1AR orthosteric ligand binding and receptor activation.
Title: Extracellular Loop 2 of the Adenosine A1 Receptor Has a Key Role in Orthosteric Ligand Affinity and Agonist Efficacy.
second extracellular loop is a key allosteric ligand-binding determinant.
Title: Role of the Second Extracellular Loop of the Adenosine A1 Receptor on Allosteric Modulator Binding, Signaling, and Cooperativity.
Dysregulation in ADORA1/ADORA2A expression was associated with glioma development.
Title: Differential Expression of Adenosine P1 Receptor ADORA1 and ADORA2A Associated with Glioma Development and Tumor-Associated Epilepsy.

Submit: New GeneRIF Correction See all GeneRIFs (77)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Adenosine P1 receptors, organism-specific biosystem (from REACTOME)
Adenosine P1 receptors, organism-specific biosystemThe adenosine receptors (P1 receptors) are a class of purinergic receptors, G-protein coupled receptors with adenosine as their endogenous ligand.In humans, there are four adenosine receptors. Each i...
Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
GPCR downstream signaling, organism-specific biosystem (from REACTOME)
GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
GPCR ligand binding, organism-specific biosystem (from REACTOME)
GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
Morphine addiction, organism-specific biosystem (from KEGG)
Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
Morphine addiction, conserved biosystem (from KEGG)
Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
Neuroactive ligand-receptor interaction, organism-specific biosystem
Neuroactive ligand-receptor interaction
Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
Neuroactive ligand-receptor interaction, conserved biosystem
Neuroactive ligand-receptor interaction
Nucleotide GPCRs, organism-specific biosystem (from WikiPathways)
Nucleotide GPCRs, organism-specific biosystem
Nucleotide GPCRs
Nucleotide-like (purinergic) receptors, organism-specific biosystem (from REACTOME)
Nucleotide-like (purinergic) receptors, organism-specific biosystemPurinergic receptors (Burnstock G, 2006; Abbracchio MP et al, 2009) are a family of newly characterized plasma membrane molecules involved in several cellular functions such as vascular reactivity, a...
Regulation of lipolysis in adipocytes, organism-specific biosystem (from KEGG)
Regulation of lipolysis in adipocytes, organism-specific biosystemLipolysis in adipocytes, the hydrolysis of triacylglycerol (TAG) to release fatty acids (FAs) and glycerol for use by other organs as energy substrates, is a unique function of white adipose tissue. ...
Renin secretion, organism-specific biosystem (from KEGG)
Renin secretion, organism-specific biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
Renin secretion, conserved biosystem (from KEGG)
Renin secretion, conserved biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by GPCR, organism-specific biosystem (from REACTOME)
Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
Sphingolipid signaling pathway, organism-specific biosystem (from KEGG)
Sphingolipid signaling pathway, organism-specific biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
Sphingolipid signaling pathway, conserved biosystem (from KEGG)
Sphingolipid signaling pathway, conserved biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
cAMP signaling pathway, organism-specific biosystem (from KEGG)
cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
cAMP signaling pathway, conserved biosystem (from KEGG)
cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76157 (e-PCR)
- UniSTS:59052

D1S1699 (e-PCR)
- UniSTS:12997

GDB:452605 (e-PCR)
- UniSTS:157389

Homology

Homologs of the ADORA1 gene: The ADORA1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 174 organisms have orthologs with human gene ADORA1
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
G-protein beta/gamma-subunit complex binding	IEA Inferred from Electronic Annotation more info
G-protein coupled adenosine receptor activity	IEA Inferred from Electronic Annotation more info
G-protein coupled receptor binding	IEA Inferred from Electronic Annotation more info
heat shock protein binding	IEA Inferred from Electronic Annotation more info
heterotrimeric G-protein binding	IEA Inferred from Electronic Annotation more info
neurotransmitter receptor activity involved in regulation of presynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
purine nucleoside binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
G-protein coupled receptor signaling pathway	TAS Traceable Author Statement more info
activation of MAPKK activity	IEA Inferred from Electronic Annotation more info
adenosine receptor signaling pathway	IEA Inferred from Electronic Annotation more info
adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
cell-cell signaling	TAS Traceable Author Statement more info	PubMed
cognition	IEA Inferred from Electronic Annotation more info
detection of temperature stimulus involved in sensory perception of pain	IEA Inferred from Electronic Annotation more info
excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
fatty acid homeostasis	IEA Inferred from Electronic Annotation more info
inflammatory response	TAS Traceable Author Statement more info	PubMed
lipid catabolic process	IEA Inferred from Electronic Annotation more info
negative regulation of acute inflammatory response	IEA Inferred from Electronic Annotation more info
negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of blood vessel diameter	IEA Inferred from Electronic Annotation more info
negative regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
negative regulation of circadian sleep/wake cycle, non-REM sleep	IEA Inferred from Electronic Annotation more info
negative regulation of glutamate secretion	IEA Inferred from Electronic Annotation more info
negative regulation of heart contraction	IEA Inferred from Electronic Annotation more info
negative regulation of hormone secretion	IEA Inferred from Electronic Annotation more info
negative regulation of leukocyte migration	IEA Inferred from Electronic Annotation more info
negative regulation of lipid catabolic process	IEA Inferred from Electronic Annotation more info
negative regulation of long term synaptic depression	IEA Inferred from Electronic Annotation more info
negative regulation of long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
negative regulation of mucus secretion	IEA Inferred from Electronic Annotation more info
negative regulation of neurotrophin production	IEA Inferred from Electronic Annotation more info
negative regulation of renal sodium excretion	IEA Inferred from Electronic Annotation more info
negative regulation of synaptic transmission, GABAergic	IEA Inferred from Electronic Annotation more info
negative regulation of synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
negative regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info
nervous system development	TAS Traceable Author Statement more info	PubMed
phagocytosis	TAS Traceable Author Statement more info	PubMed
positive regulation of epidermal growth factor-activated receptor activity	IEA Inferred from Electronic Annotation more info
positive regulation of lipid catabolic process	IEA Inferred from Electronic Annotation more info
positive regulation of neuron death	IEA Inferred from Electronic Annotation more info
positive regulation of nucleoside transport	IEA Inferred from Electronic Annotation more info
positive regulation of peptide secretion	IEA Inferred from Electronic Annotation more info
positive regulation of potassium ion transport	IEA Inferred from Electronic Annotation more info
positive regulation of protein dephosphorylation	IEA Inferred from Electronic Annotation more info
positive regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info
protein targeting to membrane	IEA Inferred from Electronic Annotation more info
regulation of cardiac muscle cell contraction	IEA Inferred from Electronic Annotation more info
regulation of glomerular filtration	IEA Inferred from Electronic Annotation more info
regulation of presynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
regulation of respiratory gaseous exchange by neurological system process	IEA Inferred from Electronic Annotation more info
regulation of sensory perception of pain	IEA Inferred from Electronic Annotation more info
relaxation of vascular smooth muscle	IEA Inferred from Electronic Annotation more info
response to hypoxia	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
temperature homeostasis	IEA Inferred from Electronic Annotation more info
triglyceride homeostasis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
axolemma	IEA Inferred from Electronic Annotation more info
basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
calyx of Held	IEA Inferred from Electronic Annotation more info
dendritic spine	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
integral component of plasma membrane	TAS Traceable Author Statement more info	PubMed
integral component of postsynaptic membrane	IEA Inferred from Electronic Annotation more info
integral component of presynaptic membrane	IEA Inferred from Electronic Annotation more info
neuronal cell body	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
postsynaptic density	IEA Inferred from Electronic Annotation more info
presynaptic active zone	IEA Inferred from Electronic Annotation more info
terminal bouton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: adenosine receptor A1

Names: adenosine A1 receptor variant 1; adenosine A1 receptor variant 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.