P2RX1 (purinergic receptor P2X 1)

Gene

• Entrez ID: 5023
• Gene name: Purinergic receptor P2X 1
• Gene symbol: P2RX1
• Synonyms (NCBI Gene): P2X1
• Chromosome: 17
• Chromosome location: 17p13.2
• Summary: The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primar

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017667	hsa-miR-335-5p	Microarray	18185580
MIRT1208862	hsa-miR-1254	CLIP-seq
MIRT1208863	hsa-miR-1266	CLIP-seq
MIRT1208864	hsa-miR-1275	CLIP-seq
MIRT1208865	hsa-miR-218	CLIP-seq
MIRT1208866	hsa-miR-24	CLIP-seq
MIRT1208867	hsa-miR-3064-5p	CLIP-seq
MIRT1208868	hsa-miR-3116	CLIP-seq
MIRT1208869	hsa-miR-3127-5p	CLIP-seq
MIRT1208870	hsa-miR-3155	CLIP-seq
MIRT1208871	hsa-miR-3155b	CLIP-seq
MIRT1208872	hsa-miR-3918	CLIP-seq
MIRT1208873	hsa-miR-3935	CLIP-seq
MIRT1208874	hsa-miR-4518	CLIP-seq
MIRT1208875	hsa-miR-4665-5p	CLIP-seq
MIRT1208876	hsa-miR-484	CLIP-seq
MIRT1208877	hsa-miR-519a	CLIP-seq
MIRT1208878	hsa-miR-519b-3p	CLIP-seq
MIRT1208879	hsa-miR-519c-3p	CLIP-seq
MIRT1208880	hsa-miR-636	CLIP-seq
MIRT1208881	hsa-miR-661	CLIP-seq
MIRT2060022	hsa-miR-128	CLIP-seq
MIRT2060023	hsa-miR-3689a-3p	CLIP-seq
MIRT2060024	hsa-miR-3689c	CLIP-seq
MIRT2060025	hsa-miR-3911	CLIP-seq
MIRT2060026	hsa-miR-4672	CLIP-seq
MIRT2060027	hsa-miR-4728-5p	CLIP-seq
MIRT2288332	hsa-miR-3614-5p	CLIP-seq
MIRT2288333	hsa-miR-890	CLIP-seq
MIRT2586458	hsa-miR-1909	CLIP-seq
MIRT2586459	hsa-miR-323b-5p	CLIP-seq
MIRT1208872	hsa-miR-3918	CLIP-seq
MIRT1208873	hsa-miR-3935	CLIP-seq
MIRT2586458	hsa-miR-1909	CLIP-seq
MIRT2586459	hsa-miR-323b-5p	CLIP-seq
MIRT1208872	hsa-miR-3918	CLIP-seq
MIRT1208873	hsa-miR-3935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001614	Function	Purinergic nucleotide receptor activity	IDA	8834001
GO:0001614	Function	Purinergic nucleotide receptor activity	IEA
GO:0002554	Process	Serotonin secretion by platelet	IEA
GO:0003056	Process	Regulation of vascular associated smooth muscle contraction	IEA
GO:0004931	Function	Extracellularly ATP-gated monoatomic cation channel activity	IBA
GO:0004931	Function	Extracellularly ATP-gated monoatomic cation channel activity	IDA	8961184
GO:0004931	Function	Extracellularly ATP-gated monoatomic cation channel activity	IEA
GO:0004931	Function	Extracellularly ATP-gated monoatomic cation channel activity	TAS	9565569
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IDA	8834001
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10816552
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9565569
GO:0006811	Process	Monoatomic ion transport	IDA	8834001
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006940	Process	Regulation of smooth muscle contraction	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	9565569
GO:0007320	Process	Insemination	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0015267	Function	Channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0030168	Process	Platelet activation	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0032991	Component	Protein-containing complex	IEA
GO:0033198	Process	Response to ATP	IEA
GO:0033198	Process	Response to ATP	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0035590	Process	Purinergic nucleotide receptor signaling pathway	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043270	Process	Positive regulation of monoatomic ion transport	IEA
GO:0043924	Function	Suramin binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045121	Component	Membrane raft	IDA	20699225
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051924	Process	Regulation of calcium ion transport	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IBA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099509	Process	Regulation of presynaptic cytosolic calcium ion concentration	IEA
GO:0099604	Function	Ligand-gated calcium channel activity	IDA	8961184, 15056721
GO:1905665	Process	Positive regulation of calcium ion import across plasma membrane	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

Other IDs

• MIM: 600845
• HGNC: 8533
• e!Ensembl: ENSG00000108405

Protein

• UniProt ID: P51575
• Protein name: P2X purinoceptor 1 (P2X1) (ATP receptor) (Purinergic receptor)
• Protein function: ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and with relatively high calcium permeability (PubMed:10440098, PubMed:15056721, PubMed:20699225, PubMed:8834001, PubMed:8961184). Furthermore, CTP functions as a
• PDB: 9B73, 9B95, 9C2A, 9C2B, 9C2C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00864	P2X_receptor	14 → 375		Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed on neutrophils and platelets (PubMed:19635923). Expressed on urinary bladder smooth muscle (PubMed:8834001). {ECO:0000269|PubMed:19635923, ECO:0000269|PubMed:8834001}.
• Sequence:

  MARRFQEELAAFLFEYDTPRMVLVRNKKVGVIFRLIQLVVLVYVIGWVFLYEKGYQTSSG
  LISSVSVKLKGLAVTQLPGLGPQVWDVADYVFPAQGDNSFVVMTNFIVTPKQTQGYCAEH
  PEGGICKEDSGCTPGKAKRKAQGIRTGKCVAFNDTVKTCEIFGWCPVEVDDDIPRPALLR
  EAENFTLFIKNSISFPRFKVNRRNLVEEVNAAHMKTCLFHKTLHPLCPVFQLGYVVQESG
  QNFSTLAEKGGVVGITIDWHCDLDWHVRHCRPIYEFHGLYEEKNLSPGFNFRFARHFVEN
  GTNYRHLFKVFGIRFDILVDGKAGKFDIIPTMTTIGSGIGIFGVATVLCDLLLLHILPKR
  HYYKQKKFKYAEDMGPGAAERDLAATSSTLGLQENMRTS

• Sequence length: 399

Pathways

KEGG:

Calcium signaling pathway
Neuroactive ligand-receptor interaction
Platelet activation

Reactome:

Elevation of cytosolic Ca2+ levels
Platelet homeostasis
Neutrophil degranulation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BLEEDING DISORDER DUE TO P2RY12 DEFECT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
P2RX1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Platelet-type bleeding disorder 8	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	17990272		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27355755		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	BEFREE	28797095		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27355755		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	15325248, 30417216		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	31636173		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	18543274, 18614336		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	37795779	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	18543274, 23602648		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	21157381, 28536012		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35585027	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	18543274, 23602648		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	31401785		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30762755		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26541524		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10503935, 28840058, 31152337		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	14701827		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	23602648		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	24143878	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29210478, 30544633		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29270247		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	24703484		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28430665		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	10503935, 28840058, 31152337		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30821687		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28034895		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	28797095		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27208163		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28840058		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	31202513		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29021225		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26517690		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28415591, 28878780		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26491047	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32638267	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	20493226		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	18543274, 23602648		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28430665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30762755		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25515510		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	23602648		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	18268501, 29122639		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29341465, 30908981		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	1649238		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	21170044, 23497937, 23725858		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21157381, 30006588, 30209547		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21081501		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31054067		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28298636, 30103845		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29692728, 31054067		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30103845		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27208163		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28415591		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20493226		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18614336		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	30071869	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25318479		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28430665		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29749377		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30010623		★☆☆☆☆ Found in Text Mining only