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P51575 (P2RX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
P2X purinoceptor 1

Short name=P2X1
Alternative name(s):
ATP receptor
Purinergic receptor
Gene names
Name:P2RX1
Synonyms:P2X1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length399 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death By similarity.

Subunit structure

Homo- or heteropolymers By similarity.

Subcellular location

Membrane; Multi-pass membrane protein.

Sequence similarities

Belongs to the P2X receptor family.

Ontologies

Keywords
   Biological processApoptosis
Ion transport
Transport
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   Molecular functionIon channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactivation of cysteine-type endopeptidase activity involved in apoptotic process

Inferred from electronic annotation. Source: Ensembl

blood coagulation

Traceable author statement. Source: Reactome

calcium ion transmembrane transport

Traceable author statement. Source: GOC

cation transport

Inferred from Biological aspect of Ancestor. Source: RefGenome

ceramide biosynthetic process

Inferred from electronic annotation. Source: Ensembl

insemination

Inferred from electronic annotation. Source: Ensembl

ion transport

Inferred from direct assay Ref.1. Source: MGI

neuronal action potential

Inferred from electronic annotation. Source: Ensembl

platelet activation

Inferred from electronic annotation. Source: Ensembl

positive regulation of ion transport

Inferred from electronic annotation. Source: Ensembl

protein heterooligomerization

Inferred from electronic annotation. Source: Ensembl

protein homooligomerization

Inferred from electronic annotation. Source: Ensembl

purinergic nucleotide receptor signaling pathway

Inferred from direct assay Ref.1. Source: GOC

regulation of blood pressure

Inferred from electronic annotation. Source: Ensembl

regulation of calcium ion transport

Inferred from electronic annotation. Source: Ensembl

regulation of vascular smooth muscle contraction

Inferred from electronic annotation. Source: Ensembl

response to ATP

Inferred from electronic annotation. Source: Ensembl

serotonin secretion by platelet

Inferred from electronic annotation. Source: Ensembl

signal transduction

Traceable author statement Ref.3. Source: ProtInc

synaptic transmission, glutamatergic

Inferred from electronic annotation. Source: Ensembl

transport

Traceable author statement Ref.3. Source: ProtInc

vasoconstriction

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentexternal side of cell outer membrane

Inferred from electronic annotation. Source: Ensembl

integral component of nuclear inner membrane

Inferred from Biological aspect of Ancestor. Source: RefGenome

integral component of plasma membrane

Traceable author statement Ref.3. Source: ProtInc

membrane raft

Inferred from electronic annotation. Source: Ensembl

neuron projection

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Traceable author statement. Source: Reactome

postsynaptic membrane

Inferred from electronic annotation. Source: Ensembl

protein complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionATP binding

Inferred from electronic annotation. Source: Ensembl

calcium channel activity

Traceable author statement. Source: Reactome

cation channel activity

Inferred from direct assay Ref.1. Source: MGI

drug binding

Inferred from electronic annotation. Source: Ensembl

extracellular ATP-gated cation channel activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

purinergic nucleotide receptor activity

Inferred from direct assay Ref.1. Source: MGI

zinc ion binding

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 399399P2X purinoceptor 1
PRO_0000161545

Regions

Topological domain1 – 2828Cytoplasmic Potential
Transmembrane29 – 5022Helical; Name=1; Potential
Topological domain51 – 338288Extracellular Potential
Transmembrane339 – 35820Helical; Name=2; Potential
Topological domain359 – 39941Cytoplasmic Potential
Region331 – 3388Pore-forming motif Potential
Compositional bias351 – 3544Poly-Leu

Amino acid modifications

Modified residue3871Phosphoserine Ref.7
Modified residue3881Phosphoserine Ref.7
Modified residue3891Phosphothreonine Ref.7
Glycosylation1531N-linked (GlcNAc...) Potential
Glycosylation1841N-linked (GlcNAc...) Potential
Glycosylation2421N-linked (GlcNAc...) Potential
Glycosylation3001N-linked (GlcNAc...) Potential
Disulfide bond117 ↔ 165 Ref.6
Disulfide bond126 ↔ 149 Ref.6
Disulfide bond132 ↔ 159 Ref.6
Disulfide bond217 ↔ 227 Ref.6
Disulfide bond261 ↔ 270 Ref.6

Natural variations

Natural variant3511Missing in one patient presenting with severe bleeding; somatic mutation; results in a non-functional channel. Ref.8
VAR_025382
Natural variant3961M → V.
Corresponds to variant rs34617528 [ dbSNP | Ensembl ].
VAR_053552

Sequences

Sequence LengthMass (Da)Tools
P51575 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 8365466665522BF8

FASTA39944,980
        10         20         30         40         50         60 
MARRFQEELA AFLFEYDTPR MVLVRNKKVG VIFRLIQLVV LVYVIGWVFL YEKGYQTSSG 

        70         80         90        100        110        120 
LISSVSVKLK GLAVTQLPGL GPQVWDVADY VFPAQGDNSF VVMTNFIVTP KQTQGYCAEH 

       130        140        150        160        170        180 
PEGGICKEDS GCTPGKAKRK AQGIRTGKCV AFNDTVKTCE IFGWCPVEVD DDIPRPALLR 

       190        200        210        220        230        240 
EAENFTLFIK NSISFPRFKV NRRNLVEEVN AAHMKTCLFH KTLHPLCPVF QLGYVVQESG 

       250        260        270        280        290        300 
QNFSTLAEKG GVVGITIDWH CDLDWHVRHC RPIYEFHGLY EEKNLSPGFN FRFARHFVEN 

       310        320        330        340        350        360 
GTNYRHLFKV FGIRFDILVD GKAGKFDIIP TMTTIGSGIG IFGVATVLCD LLLLHILPKR 

       370        380        390 
HYYKQKKFKY AEDMGPGAAE RDLAATSSTL GLQENMRTS 

« Hide

References

« Hide 'large scale' references
[1]"Characterization and chromosomal localization of a human P2X receptor from the urinary bladder."
Valera S., Talabot F., Evans R.J., Gos A., Antonarakis S.E., Morris M.A., Buell G.N.
Recept. Channels 3:283-289(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Urinary bladder smooth muscle.
[2]"The human P2x1 receptor: molecular cloning, tissue distribution, and localization to chromosome 17."
Longhurst P.A., Schwegel T., Folander K., Swanson R.
Biochim. Biophys. Acta 1308:185-188(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Urinary bladder.
[3]"P2X1 purinoceptor in human platelets. Molecular cloning and functional characterization after heterologous expression."
Sun B., Li J., Okahara K., Kambayashi J.
J. Biol. Chem. 273:11544-11547(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Platelet.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Blood.
[5]"Regulation of human P2X1 promoter by bHLH factors in smooth muscle cells."
Dhulipala P.D., Kotlikoff M.I.
Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-8.
Tissue: Placenta.
[6]"Conserved cysteine residues in the extracellular loop of the human P2X(1) receptor form disulfide bonds and are involved in receptor trafficking to the cell surface."
Ennion S.J., Evans R.J.
Mol. Pharmacol. 61:303-311(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: DISULFIDE BONDS.
[7]"Mass spectrometry analysis of human P2X1 receptors; insight into phosphorylation, modelling and conformational changes."
Roberts J.A., Bottrill A.R., Mistry S., Evans R.J.
J. Neurochem. 123:725-735(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION AT SER-387; SER-388 AND THR-389.
[8]"A natural dominant negative P2X1 receptor due to deletion of a single amino acid residue."
Oury C., Toth-Zsamboki E., Van Geet C., Thys C., Wei L., Nilius B., Vermylen J., Hoylaerts M.F.
J. Biol. Chem. 275:22611-22614(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LEU-351 DEL, CHARACTERIZATION OF VARIANT LEU-351 DEL.
+Additional computationally mapped references.

Web resources

Wikipedia

P2X receptor entry

Wikipedia

P2RX1 entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X83688 mRNA. Translation: CAA58657.1.
U45448 mRNA. Translation: AAC50698.1.
AF020498 mRNA. Translation: AAC24494.1.
BC044657 mRNA. Translation: AAH44657.1.
AF177472 Genomic DNA. Translation: AAD55395.1.
CCDSCCDS11040.1.
PIRS71927.
RefSeqNP_002549.1. NM_002558.3.
UniGeneHs.41735.

3D structure databases

ProteinModelPortalP51575.
SMRP51575. Positions 34-354.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000225538.

Chemistry

BindingDBP51575.
ChEMBLCHEMBL2094.
GuidetoPHARMACOLOGY478.

PTM databases

PhosphoSiteP51575.

Polymorphism databases

DMDM1709519.

Proteomic databases

PaxDbP51575.
PRIDEP51575.

Protocols and materials databases

DNASU5023.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000225538; ENSP00000225538; ENSG00000108405.
GeneID5023.
KEGGhsa:5023.
UCSCuc002fww.3. human.

Organism-specific databases

CTD5023.
GeneCardsGC17M003799.
HGNCHGNC:8533. P2RX1.
HPACAB006813.
MIM600845. gene+phenotype.
neXtProtNX_P51575.
PharmGKBPA32861.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG47843.
HOGENOMHOG000232042.
HOVERGENHBG053086.
InParanoidP51575.
KOK05215.
OMATGKCVAF.
OrthoDBEOG78PV92.
PhylomeDBP51575.
TreeFamTF328633.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

ArrayExpressP51575.
BgeeP51575.
CleanExHS_P2RX1.
GenevestigatorP51575.

Family and domain databases

Gene3D2.60.490.10. 1 hit.
InterProIPR003044. P2X1_purnocptor.
IPR027309. P2X_extracellular_dom.
IPR001429. P2X_purnocptor.
[Graphical view]
PANTHERPTHR10125. PTHR10125. 1 hit.
PTHR10125:SF9. PTHR10125:SF9. 1 hit.
PfamPF00864. P2X_receptor. 1 hit.
[Graphical view]
PRINTSPR01308. P2X1RECEPTOR.
PR01307. P2XRECEPTOR.
TIGRFAMsTIGR00863. P2X. 1 hit.
PROSITEPS01212. P2X_RECEPTOR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiP2RX1.
GenomeRNAi5023.
NextBio19336.
PROP51575.
SOURCESearch...

Entry information

Entry nameP2RX1_HUMAN
AccessionPrimary (citable) accession number: P51575
Secondary accession number(s): Q9UK84
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: July 9, 2014
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM