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
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
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Genomic context

Location:: 1q32.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (203127705..203167405)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (203096854..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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional Impact of the G279S Substitution in the Adenosine A1-Receptor (A1R-G279S(7.44)), a Mutation Associated with Parkinson's Disease.
Title: Functional Impact of the G279S Substitution in the Adenosine A1-Receptor (A1R-G279S7.44), a Mutation Associated with Parkinson's Disease.
ADORA1 role in the tumor immune evasion.ADORA1 regulates tumor PD-L1 expression.
Title: ADORA1 Inhibition Promotes Tumor Immune Evasion by Regulating the ATF3-PD-L1 Axis.
A2AR-A1R heterodimerization is proposed as the molecular mechanism enabling the NHE-independent control of renal oxygen consumption .
Title: Adenosine A2A receptor blocks the A 1 receptor inhibition of renal Na + transport and oxygen consumption.
Abeta and tau may be considered as novel biomarkers of sleep disorder in AD pathology, and that they function by regulating the expression levels of orexin A and adenosine A1R.
Title: Amyloid β and tau are involved in sleep disorder in Alzheimer's disease by orexin A and adenosine A(1) receptor.
3.6 A structure of the human A1R in complex with adenosine and heterotrimeric Gi2 protein determined by Volta phase plate cryo-electron microscopy
Title: Structure of the adenosine-bound human adenosine A1 receptor-Gi complex.
ADORA1 is not a common risk factor or causal gene for Parkinson's disease or dementia with Lewy bodies in the European population
Title: ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies.
monocyte-derived macrophages from ankylosing spondylitis patients expressed increased levels of A2AAR and reduced levels of A1 and A2BAR compared to healthy controls
Title: Ankylosing spondylitis monocyte-derived macrophages express increased level of A2A adenosine receptor and decreased level of ectonucleoside triphosphate diphosphohydrolase-1 (CD39), A1 and A2B adenosine receptors.
studies revealed individual trait characteristics for being either vulnerable or resilient to both alcohol and to sleep deprivation. Both interventions induce gradual increases in cerebral A1AR availability, pointing to a potential common molecular response mechanism.
Title: Cognitive impairments by alcohol and sleep deprivation indicate trait characteristics and a potential role for adenosine A1 receptors.
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.

Submit: New GeneRIF Correction See all GeneRIFs (85)

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

Associated conditions

Description	Tests
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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: 236 organisms have orthologs with human gene ADORA1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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
G-protein beta/gamma-subunit complex 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 adenosine receptor signaling pathway	IEA Inferred from Electronic Annotation more info
G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
activation of MAPKK activity	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 cell population 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 nervous 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 associated 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.

Genomic

NG_052917.1 RefSeqGene

Range

5022..44701

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000674.3 → NP_000665.1 adenosine receptor A1 isoform 1

See identical proteins and their annotated locations for NP_000665.1

Status: REVIEWED

Source sequence(s)

AC105940, BU740906, DB171678, L22214

Consensus CDS

CCDS1434.1

UniProtKB/Swiss-Prot

P30542

Related

ENSP00000338435.4, ENST00000337894.9

Conserved Domains (2) summary

pfam00001
Location:26 → 288

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:18 → 137

7tm_4; Olfactory receptor
NM_001048230.2 → NP_001041695.1 adenosine receptor A1 isoform 1

See identical proteins and their annotated locations for NP_001041695.1

Status: REVIEWED

Source sequence(s)

AC105940, AK127752, BU740906, DA343445

Consensus CDS

CCDS1434.1

UniProtKB/Swiss-Prot

P30542

Related

ENSP00000356205.4, ENST00000367236.8

Conserved Domains (2) summary

pfam00001
Location:26 → 288

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:18 → 137

7tm_4; Olfactory receptor
NM_001365065.1 → NP_001351994.1 adenosine receptor A1 isoform 2

Status: REVIEWED

Source sequence(s)

AC105940

Conserved Domains (2) summary

cd14964
Location:58 → 74

7tm_GPCRs; TM helix 4 [structural motif]

cl28897
Location:46 → 231

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_001365066.1 → NP_001351995.1 adenosine receptor A1 isoform 3

Status: REVIEWED

Source sequence(s)

AC105940

Related

ENSP00000483953.1, ENST00000618295.1

Conserved Domains (2) summary

cd14964
Location:10 → 26

7tm_GPCRs; TM helix 4 [structural motif]

cl28897
Location:1 → 183

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p13 Primary Assembly

Range

203127705..203167405

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005244901.1 → XP_005244958.1 adenosine receptor A1 isoform X1

See identical proteins and their annotated locations for XP_005244958.1

UniProtKB/TrEMBL

B7Z1L9

Conserved Domains (2) summary

cd14964
Location:58 → 74

7tm_GPCRs; TM helix 4 [structural motif]

cl28897
Location:46 → 231

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_005244902.4 → XP_005244959.1 adenosine receptor A1 isoform X1

See identical proteins and their annotated locations for XP_005244959.1

UniProtKB/TrEMBL

B7Z1L9

Conserved Domains (2) summary

cd14964
Location:58 → 74

7tm_GPCRs; TM helix 4 [structural motif]

cl28897
Location:46 → 231

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily