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P51575

- P2RX1_HUMAN

UniProt

P51575 - P2RX1_HUMAN

Protein

P2X purinoceptor 1

Gene

P2RX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    Functioni

    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.By similarity

    GO - Molecular functioni

    1. ATP binding Source: Ensembl
    2. calcium channel activity Source: Reactome
    3. cation channel activity Source: MGI
    4. drug binding Source: Ensembl
    5. extracellular ATP-gated cation channel activity Source: RefGenome
    6. purinergic nucleotide receptor activity Source: MGI
    7. zinc ion binding Source: Ensembl

    GO - Biological processi

    1. activation of cysteine-type endopeptidase activity involved in apoptotic process Source: Ensembl
    2. blood coagulation Source: Reactome
    3. calcium ion transmembrane transport Source: GOC
    4. cation transport Source: RefGenome
    5. ceramide biosynthetic process Source: Ensembl
    6. insemination Source: Ensembl
    7. ion transport Source: MGI
    8. neuronal action potential Source: Ensembl
    9. platelet activation Source: Ensembl
    10. positive regulation of ion transport Source: Ensembl
    11. protein heterooligomerization Source: Ensembl
    12. protein homooligomerization Source: Ensembl
    13. purinergic nucleotide receptor signaling pathway Source: GOC
    14. regulation of blood pressure Source: Ensembl
    15. regulation of calcium ion transport Source: Ensembl
    16. regulation of vascular smooth muscle contraction Source: Ensembl
    17. response to ATP Source: Ensembl
    18. serotonin secretion by platelet Source: Ensembl
    19. signal transduction Source: ProtInc
    20. synaptic transmission, glutamatergic Source: Ensembl
    21. transport Source: ProtInc
    22. vasoconstriction Source: Ensembl

    Keywords - Molecular functioni

    Ion channel, Ligand-gated ion channel, Receptor

    Keywords - Biological processi

    Apoptosis, Ion transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_162. Elevation of cytosolic Ca2+ levels.
    REACT_23876. Platelet homeostasis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    P2X purinoceptor 1
    Short name:
    P2X1
    Alternative name(s):
    ATP receptor
    Purinergic receptor
    Gene namesi
    Name:P2RX1
    Synonyms:P2X1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:8533. P2RX1.

    Subcellular locationi

    GO - Cellular componenti

    1. external side of cell outer membrane Source: Ensembl
    2. integral component of nuclear inner membrane Source: RefGenome
    3. integral component of plasma membrane Source: ProtInc
    4. membrane raft Source: Ensembl
    5. neuron projection Source: Ensembl
    6. plasma membrane Source: Reactome
    7. postsynaptic membrane Source: Ensembl
    8. protein complex Source: Ensembl

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi600845. gene+phenotype.
    PharmGKBiPA32861.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 399399P2X purinoceptor 1PRO_0000161545Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi117 ↔ 1651 Publication
    Disulfide bondi126 ↔ 1491 Publication
    Disulfide bondi132 ↔ 1591 Publication
    Glycosylationi153 – 1531N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi184 – 1841N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi217 ↔ 2271 Publication
    Glycosylationi242 – 2421N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi261 ↔ 2701 Publication
    Glycosylationi300 – 3001N-linked (GlcNAc...)Sequence Analysis
    Modified residuei387 – 3871Phosphoserine1 Publication
    Modified residuei388 – 3881Phosphoserine1 Publication
    Modified residuei389 – 3891Phosphothreonine1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiP51575.
    PRIDEiP51575.

    PTM databases

    PhosphoSiteiP51575.

    Expressioni

    Gene expression databases

    ArrayExpressiP51575.
    BgeeiP51575.
    CleanExiHS_P2RX1.
    GenevestigatoriP51575.

    Organism-specific databases

    HPAiCAB006813.

    Interactioni

    Subunit structurei

    Homo- or heteropolymers.By similarity

    Protein-protein interaction databases

    STRINGi9606.ENSP00000225538.

    Structurei

    3D structure databases

    ProteinModelPortaliP51575.
    SMRiP51575. Positions 34-354.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2828CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini51 – 338288ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini359 – 39941CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei29 – 5022Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei339 – 35820Helical; Name=2Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni331 – 3388Pore-forming motifSequence Analysis

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi351 – 3544Poly-Leu

    Sequence similaritiesi

    Belongs to the P2X receptor family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG47843.
    HOGENOMiHOG000232042.
    HOVERGENiHBG053086.
    InParanoidiP51575.
    KOiK05215.
    OMAiTGKCVAF.
    OrthoDBiEOG78PV92.
    PhylomeDBiP51575.
    TreeFamiTF328633.

    Family and domain databases

    Gene3Di2.60.490.10. 1 hit.
    InterProiIPR003044. P2X1_purnocptor.
    IPR027309. P2X_extracellular_dom.
    IPR001429. P2X_purnocptor.
    [Graphical view]
    PANTHERiPTHR10125. PTHR10125. 1 hit.
    PTHR10125:SF9. PTHR10125:SF9. 1 hit.
    PfamiPF00864. P2X_receptor. 1 hit.
    [Graphical view]
    PRINTSiPR01308. P2X1RECEPTOR.
    PR01307. P2XRECEPTOR.
    TIGRFAMsiTIGR00863. P2X. 1 hit.
    PROSITEiPS01212. P2X_RECEPTOR. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P51575-1 [UniParc]FASTAAdd to Basket

    « Hide

    MARRFQEELA AFLFEYDTPR MVLVRNKKVG VIFRLIQLVV LVYVIGWVFL    50
    YEKGYQTSSG LISSVSVKLK GLAVTQLPGL GPQVWDVADY VFPAQGDNSF 100
    VVMTNFIVTP KQTQGYCAEH PEGGICKEDS GCTPGKAKRK AQGIRTGKCV 150
    AFNDTVKTCE IFGWCPVEVD DDIPRPALLR EAENFTLFIK NSISFPRFKV 200
    NRRNLVEEVN AAHMKTCLFH KTLHPLCPVF QLGYVVQESG QNFSTLAEKG 250
    GVVGITIDWH CDLDWHVRHC RPIYEFHGLY EEKNLSPGFN FRFARHFVEN 300
    GTNYRHLFKV FGIRFDILVD GKAGKFDIIP TMTTIGSGIG IFGVATVLCD 350
    LLLLHILPKR HYYKQKKFKY AEDMGPGAAE RDLAATSSTL GLQENMRTS 399
    Length:399
    Mass (Da):44,980
    Last modified:October 1, 1996 - v1
    Checksum:i8365466665522BF8
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti351 – 3511Missing in one patient presenting with severe bleeding; somatic mutation; results in a non-functional channel. 1 Publication
    VAR_025382
    Natural varianti396 – 3961M → V.
    Corresponds to variant rs34617528 [ dbSNP | Ensembl ].
    VAR_053552

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS11040.1.
    PIRiS71927.
    RefSeqiNP_002549.1. NM_002558.3.
    UniGeneiHs.41735.

    Genome annotation databases

    EnsembliENST00000225538; ENSP00000225538; ENSG00000108405.
    GeneIDi5023.
    KEGGihsa:5023.
    UCSCiuc002fww.3. human.

    Polymorphism databases

    DMDMi1709519.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    P2X receptor entry

    Wikipedia

    P2RX1 entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS11040.1.
    PIRi S71927.
    RefSeqi NP_002549.1. NM_002558.3.
    UniGenei Hs.41735.

    3D structure databases

    ProteinModelPortali P51575.
    SMRi P51575. Positions 34-354.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000225538.

    Chemistry

    BindingDBi P51575.
    ChEMBLi CHEMBL2094.
    GuidetoPHARMACOLOGYi 478.

    PTM databases

    PhosphoSitei P51575.

    Polymorphism databases

    DMDMi 1709519.

    Proteomic databases

    PaxDbi P51575.
    PRIDEi P51575.

    Protocols and materials databases

    DNASUi 5023.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000225538 ; ENSP00000225538 ; ENSG00000108405 .
    GeneIDi 5023.
    KEGGi hsa:5023.
    UCSCi uc002fww.3. human.

    Organism-specific databases

    CTDi 5023.
    GeneCardsi GC17M003799.
    HGNCi HGNC:8533. P2RX1.
    HPAi CAB006813.
    MIMi 600845. gene+phenotype.
    neXtProti NX_P51575.
    PharmGKBi PA32861.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG47843.
    HOGENOMi HOG000232042.
    HOVERGENi HBG053086.
    InParanoidi P51575.
    KOi K05215.
    OMAi TGKCVAF.
    OrthoDBi EOG78PV92.
    PhylomeDBi P51575.
    TreeFami TF328633.

    Enzyme and pathway databases

    Reactomei REACT_162. Elevation of cytosolic Ca2+ levels.
    REACT_23876. Platelet homeostasis.

    Miscellaneous databases

    GeneWikii P2RX1.
    GenomeRNAii 5023.
    NextBioi 19336.
    PROi P51575.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51575.
    Bgeei P51575.
    CleanExi HS_P2RX1.
    Genevestigatori P51575.

    Family and domain databases

    Gene3Di 2.60.490.10. 1 hit.
    InterProi IPR003044. P2X1_purnocptor.
    IPR027309. P2X_extracellular_dom.
    IPR001429. P2X_purnocptor.
    [Graphical view ]
    PANTHERi PTHR10125. PTHR10125. 1 hit.
    PTHR10125:SF9. PTHR10125:SF9. 1 hit.
    Pfami PF00864. P2X_receptor. 1 hit.
    [Graphical view ]
    PRINTSi PR01308. P2X1RECEPTOR.
    PR01307. P2XRECEPTOR.
    TIGRFAMsi TIGR00863. P2X. 1 hit.
    PROSITEi PS01212. P2X_RECEPTOR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.

    Entry informationi

    Entry nameiP2RX1_HUMAN
    AccessioniPrimary (citable) accession number: P51575
    Secondary accession number(s): Q9UK84
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 126 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3