<?xml version='1.0' encoding='UTF-8'?>
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<entry dataset="Swiss-Prot" created="1996-10-01" modified="2010-03-02" version="85">
<accession>P51575</accession>
<accession>Q9UK84</accession>
<name>P2RX1_HUMAN</name>
<protein>
<recommendedName>
<fullName>P2X purinoceptor 1</fullName>
<shortName>P2X1</shortName>
</recommendedName>
<alternativeName>
<fullName>ATP receptor</fullName>
</alternativeName>
<alternativeName>
<fullName>Purinergic receptor</fullName>
</alternativeName>
</protein>
<gene>
<name type="primary">P2RX1</name>
<name type="synonym">P2X1</name>
</gene>
<organism>
<name type="scientific">Homo sapiens</name>
<name type="common">Human</name>
<dbReference type="NCBI Taxonomy" id="9606" key="1" />
<lineage>
<taxon>Eukaryota</taxon>
<taxon>Metazoa</taxon>
<taxon>Chordata</taxon>
<taxon>Craniata</taxon>
<taxon>Vertebrata</taxon>
<taxon>Euteleostomi</taxon>
<taxon>Mammalia</taxon>
<taxon>Eutheria</taxon>
<taxon>Euarchontoglires</taxon>
<taxon>Primates</taxon>
<taxon>Haplorrhini</taxon>
<taxon>Catarrhini</taxon>
<taxon>Hominidae</taxon>
<taxon>Homo</taxon>
</lineage>
</organism>
<reference key="2">
<citation type="journal article" date="1995" name="Recept. Channels" volume="3" first="283" last="289">
<title>Characterization and chromosomal localization of a human P2X receptor from the urinary bladder.</title>
<authorList>
<person name="Valera S." />
<person name="Talabot F." />
<person name="Evans R.J." />
<person name="Gos A." />
<person name="Antonarakis S.E." />
<person name="Morris M.A." />
<person name="Buell G.N." />
</authorList>
<dbReference type="MEDLINE" id="96430919" key="3" />
<dbReference type="PubMed" id="8834001" key="4" />
</citation>
<scope>NUCLEOTIDE SEQUENCE [MRNA]</scope>
<source>
<tissue>Urinary bladder smooth muscle</tissue>
</source>
</reference>
<reference key="5">
<citation type="journal article" date="1996" name="Biochim. Biophys. Acta" volume="1308" first="185" last="188">
<title>The human P2x1 receptor: molecular cloning, tissue distribution, and localization to chromosome 17.</title>
<authorList>
<person name="Longhurst P.A." />
<person name="Schwegel T." />
<person name="Folander K." />
<person name="Swanson R." />
</authorList>
<dbReference type="MEDLINE" id="96404967" key="6" />
<dbReference type="PubMed" id="8809107" key="7" />
<dbReference type="DOI" id="10.1016/0167-4781(96)00112-1" key="8" />
</citation>
<scope>NUCLEOTIDE SEQUENCE [MRNA]</scope>
<source>
<tissue>Urinary bladder</tissue>
</source>
</reference>
<reference key="9">
<citation type="journal article" date="1998" name="J. Biol. Chem." volume="273" first="11544" last="11547">
<title>P2X1 purinoceptor in human platelets. Molecular cloning and functional characterization after heterologous expression.</title>
<authorList>
<person name="Sun B." />
<person name="Li J." />
<person name="Okahara K." />
<person name="Kambayashi J." />
</authorList>
<dbReference type="MEDLINE" id="98234335" key="10" />
<dbReference type="PubMed" id="9565569" key="11" />
<dbReference type="DOI" id="10.1074/jbc.273.19.11544" key="12" />
</citation>
<scope>NUCLEOTIDE SEQUENCE [MRNA]</scope>
<source>
<tissue>Platelet</tissue>
</source>
</reference>
<reference key="13">
<citation type="journal article" date="2004" name="Genome Res." volume="14" first="2121" last="2127">
<title>The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).</title>
<authorList>
<consortium name="The MGC Project Team" />
</authorList>
<dbReference type="PubMed" id="15489334" key="14" />
<dbReference type="DOI" id="10.1101/gr.2596504" key="15" />
</citation>
<scope>NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]</scope>
<source>
<tissue>Blood</tissue>
</source>
</reference>
<reference key="16">
<citation type="submission" date="1999-08" db="EMBL/GenBank/DDBJ databases">
<title>Regulation of human P2X1 promoter by bHLH factors in smooth muscle cells.</title>
<authorList>
<person name="Dhulipala P.D." />
<person name="Kotlikoff M.I." />
</authorList>
</citation>
<scope>NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-8</scope>
<source>
<tissue>Placenta</tissue>
</source>
</reference>
<reference key="17">
<citation type="journal article" date="2002" name="Mol. Pharmacol." volume="61" first="303" last="311">
<title>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.</title>
<authorList>
<person name="Ennion S.J." />
<person name="Evans R.J." />
</authorList>
<dbReference type="MEDLINE" id="21669051" key="18" />
<dbReference type="PubMed" id="11809854" key="19" />
<dbReference type="DOI" id="10.1124/mol.61.2.303" key="20" />
</citation>
<scope>DISULFIDE BONDS</scope>
</reference>
<reference key="21">
<citation type="journal article" date="2000" name="J. Biol. Chem." volume="275" first="22611" last="22614">
<title>A natural dominant negative P2X1 receptor due to deletion of a single amino acid residue.</title>
<authorList>
<person name="Oury C." />
<person name="Toth-Zsamboki E." />
<person name="Van Geet C." />
<person name="Thys C." />
<person name="Wei L." />
<person name="Nilius B." />
<person name="Vermylen J." />
<person name="Hoylaerts M.F." />
</authorList>
<dbReference type="PubMed" id="10816552" key="22" />
<dbReference type="DOI" id="10.1074/jbc.C000305200" key="23" />
</citation>
<scope>VARIANT BLEEDING DISORDER LEU-351 DEL</scope>
</reference>
<comment type="function">
<text>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).</text>
</comment>
<comment type="subunit">
<text>Homo- or heteropolymers (By similarity).</text>
</comment>
<comment type="subcellular location">
<subcellularLocation>
<location>Membrane</location>
<topology>Multi-pass membrane protein</topology>
</subcellularLocation>
</comment>
<comment type="disease">
<text>Defects in P2RX1 are a cause of bleeding disorder [MIM:600845].</text>
</comment>
<comment type="similarity">
<text>Belongs to the P2X receptor family.</text>
</comment>
<comment type="online information" name="Wikipedia">
<link uri="http://en.wikipedia.org/wiki/P2X_receptor" />
<text>P2X receptor entry</text>
</comment>
<comment type="online information" name="Wikipedia">
<link uri="http://en.wikipedia.org/wiki/P2RX1" />
<text>P2RX1 entry</text>
</comment>
<dbReference type="EMBL" id="X83688" key="24">
<property type="protein sequence ID" value="CAA58657.1" />
<property type="molecule type" value="mRNA" />
</dbReference>
<dbReference type="EMBL" id="U45448" key="25">
<property type="protein sequence ID" value="AAC50698.1" />
<property type="molecule type" value="mRNA" />
</dbReference>
<dbReference type="EMBL" id="AF020498" key="26">
<property type="protein sequence ID" value="AAC24494.1" />
<property type="molecule type" value="mRNA" />
</dbReference>
<dbReference type="EMBL" id="BC044657" key="27">
<property type="protein sequence ID" value="AAH44657.1" />
<property type="molecule type" value="mRNA" />
</dbReference>
<dbReference type="EMBL" id="AF177472" key="28">
<property type="protein sequence ID" value="AAD55395.1" />
<property type="molecule type" value="Genomic_DNA" />
</dbReference>
<dbReference type="IPI" id="IPI00019391" key="29" />
<dbReference type="PIR" id="S71927" key="30">
<property type="entry name" value="S71927" />
</dbReference>
<dbReference type="RefSeq" id="NP_002549.1" key="31" />
<dbReference type="UniGene" id="Hs.41735" key="32" />
<dbReference type="STRING" id="P51575" key="33" />
<dbReference type="PhosphoSite" id="P51575" key="34" />
<dbReference type="PRIDE" id="P51575" key="35" />
<dbReference type="Ensembl" id="ENST00000225538" key="36">
<property type="protein sequence ID" value="ENSP00000225538" />
<property type="gene designation" value="ENSG00000108405" />
<property type="organism name" value="Homo sapiens" />
</dbReference>
<dbReference type="GeneID" id="5023" key="37" />
<dbReference type="KEGG" id="hsa:5023" key="38" />
<dbReference type="UCSC" id="uc002fww.1" key="39">
<property type="organism name" value="human" />
</dbReference>
<dbReference type="CTD" id="5023" key="40" />
<dbReference type="GeneCards" id="GC17M003746" key="41" />
<dbReference type="H-InvDB" id="HIX0027117" key="42" />
<dbReference type="HGNC" id="HGNC:8533" key="43">
<property type="gene designation" value="P2RX1" />
</dbReference>
<dbReference type="HPA" id="CAB006813" key="44" />
<dbReference type="MIM" id="600845" key="45">
<property type="type" value="gene+phenotype" />
</dbReference>
<dbReference type="PharmGKB" id="PA32861" key="46" />
<dbReference type="eggNOG" id="prNOG04925" key="47" />
<dbReference type="HOGENOM" id="HBG713324" key="48" />
<dbReference type="HOVERGEN" id="HBG053086" key="49" />
<dbReference type="InParanoid" id="P51575" key="50" />
<dbReference type="OMA" id="EYDTPRM" key="51" />
<dbReference type="OrthoDB" id="EOG9RNDTR" key="52" />
<dbReference type="PhylomeDB" id="P51575" key="53" />
<dbReference type="Reactome" id="REACT_604" key="54">
<property type="pathway name" value="Hemostasis" />
</dbReference>
<dbReference type="NextBio" id="19336" key="55" />
<dbReference type="ArrayExpress" id="P51575" key="56" />
<dbReference type="Bgee" id="P51575" key="57" />
<dbReference type="CleanEx" id="HS_P2RX1" key="58" />
<dbReference type="Genevestigator" id="P51575" key="59" />
<dbReference type="GermOnline" id="ENSG00000108405" key="60">
<property type="organism name" value="Homo sapiens" />
</dbReference>
<dbReference type="GO" id="GO:0005887" key="61">
<property type="term" value="C:integral to plasma membrane" />
<property type="evidence" value="TAS:ProtInc" />
</dbReference>
<dbReference type="GO" id="GO:0005524" key="62">
<property type="term" value="F:ATP binding" />
<property type="evidence" value="IEA:InterPro" />
</dbReference>
<dbReference type="GO" id="GO:0004931" key="63">
<property type="term" value="F:ATP-gated cation channel activity" />
<property type="evidence" value="TAS:ProtInc" />
</dbReference>
<dbReference type="GO" id="GO:0046982" key="64">
<property type="term" value="F:protein heterodimerization activity" />
<property type="evidence" value="NAS:UniProtKB" />
</dbReference>
<dbReference type="GO" id="GO:0042803" key="65">
<property type="term" value="F:protein homodimerization activity" />
<property type="evidence" value="NAS:UniProtKB" />
</dbReference>
<dbReference type="GO" id="GO:0001614" key="66">
<property type="term" value="F:purinergic nucleotide receptor activity" />
<property type="evidence" value="IDA:MGI" />
</dbReference>
<dbReference type="GO" id="GO:0006811" key="67">
<property type="term" value="P:ion transport" />
<property type="evidence" value="IDA:MGI" />
</dbReference>
<dbReference type="GO" id="GO:0007165" key="68">
<property type="term" value="P:signal transduction" />
<property type="evidence" value="TAS:ProtInc" />
</dbReference>
<dbReference type="InterPro" id="IPR003044" key="69">
<property type="entry name" value="P2X1_purnocptor" />
</dbReference>
<dbReference type="InterPro" id="IPR001429" key="70">
<property type="entry name" value="P2X_purnocptor" />
</dbReference>
<dbReference type="PANTHER" id="PTHR10125" key="71">
<property type="entry name" value="ATP_P2X_rcpt" />
<property type="match status" value="1" />
</dbReference>
<dbReference type="Pfam" id="PF00864" key="72">
<property type="entry name" value="P2X_receptor" />
<property type="match status" value="1" />
</dbReference>
<dbReference type="PRINTS" id="PR01308" key="73">
<property type="entry name" value="P2X1RECEPTOR" />
</dbReference>
<dbReference type="PRINTS" id="PR01307" key="74">
<property type="entry name" value="P2XRECEPTOR" />
</dbReference>
<dbReference type="TIGRFAMs" id="TIGR00863" key="75">
<property type="entry name" value="P2X" />
<property type="match status" value="1" />
</dbReference>
<dbReference type="PROSITE" id="PS01212" key="76">
<property type="entry name" value="P2X_RECEPTOR" />
<property type="match status" value="1" />
</dbReference>
<proteinExistence type="evidence at protein level" />
<keyword id="KW-0053">Apoptosis</keyword>
<keyword id="KW-0181">Complete proteome</keyword>
<keyword id="KW-0225">Disease mutation</keyword>
<keyword id="KW-1015">Disulfide bond</keyword>
<keyword id="KW-0325">Glycoprotein</keyword>
<keyword id="KW-0406">Ion transport</keyword>
<keyword id="KW-0407">Ionic channel</keyword>
<keyword id="KW-0472">Membrane</keyword>
<keyword id="KW-0621">Polymorphism</keyword>
<keyword id="KW-0675">Receptor</keyword>
<keyword id="KW-0812">Transmembrane</keyword>
<keyword id="KW-0813">Transport</keyword>
<feature type="chain" description="P2X purinoceptor 1" id="PRO_0000161545">
<location>
<begin position="1" />
<end position="399" />
</location>
</feature>
<feature type="topological domain" description="Cytoplasmic" status="potential">
<location>
<begin position="1" />
<end position="28" />
</location>
</feature>
<feature type="transmembrane region" description="1" status="potential">
<location>
<begin position="29" />
<end position="50" />
</location>
</feature>
<feature type="topological domain" description="Extracellular" status="potential">
<location>
<begin position="51" />
<end position="338" />
</location>
</feature>
<feature type="transmembrane region" description="2" status="potential">
<location>
<begin position="339" />
<end position="358" />
</location>
</feature>
<feature type="topological domain" description="Cytoplasmic" status="potential">
<location>
<begin position="359" />
<end position="399" />
</location>
</feature>
<feature type="region of interest" description="Pore-forming motif" status="potential">
<location>
<begin position="331" />
<end position="338" />
</location>
</feature>
<feature type="compositionally biased region" description="Poly-Leu">
<location>
<begin position="351" />
<end position="354" />
</location>
</feature>
<feature type="glycosylation site" description="N-linked (GlcNAc...)" status="potential">
<location>
<position position="153" />
</location>
</feature>
<feature type="glycosylation site" description="N-linked (GlcNAc...)" status="potential">
<location>
<position position="184" />
</location>
</feature>
<feature type="glycosylation site" description="N-linked (GlcNAc...)" status="potential">
<location>
<position position="242" />
</location>
</feature>
<feature type="glycosylation site" description="N-linked (GlcNAc...)" status="potential">
<location>
<position position="300" />
</location>
</feature>
<feature type="disulfide bond">
<location>
<begin position="117" />
<end position="165" />
</location>
</feature>
<feature type="disulfide bond">
<location>
<begin position="126" />
<end position="149" />
</location>
</feature>
<feature type="disulfide bond">
<location>
<begin position="132" />
<end position="159" />
</location>
</feature>
<feature type="disulfide bond">
<location>
<begin position="217" />
<end position="227" />
</location>
</feature>
<feature type="disulfide bond">
<location>
<begin position="261" />
<end position="270" />
</location>
</feature>
<feature type="sequence variant" description="In bleeding disorder." id="VAR_025382">
<location>
<position position="351" />
</location>
</feature>
<feature type="sequence variant" description="In dbSNP:rs34617528." id="VAR_053552">
<original>M</original>
<variation>V</variation>
<location>
<position position="396" />
</location>
</feature>
<sequence length="399" mass="44980" checksum="8365466665522BF8" modified="1996-10-01" version="1">
MARRFQEELAAFLFEYDTPRMVLVRNKKVGVIFRLIQLVVLVYVIGWVFLYEKGYQTSSG
LISSVSVKLKGLAVTQLPGLGPQVWDVADYVFPAQGDNSFVVMTNFIVTPKQTQGYCAEH
PEGGICKEDSGCTPGKAKRKAQGIRTGKCVAFNDTVKTCEIFGWCPVEVDDDIPRPALLR
EAENFTLFIKNSISFPRFKVNRRNLVEEVNAAHMKTCLFHKTLHPLCPVFQLGYVVQESG
QNFSTLAEKGGVVGITIDWHCDLDWHVRHCRPIYEFHGLYEEKNLSPGFNFRFARHFVEN
GTNYRHLFKVFGIRFDILVDGKAGKFDIIPTMTTIGSGIGIFGVATVLCDLLLLHILPKR
HYYKQKKFKYAEDMGPGAAERDLAATSSTLGLQENMRTS
</sequence>
</entry>
<copyright>
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
</copyright>
</uniprot>