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Q99572

- P2RX7_HUMAN

UniProt

Q99572 - P2RX7_HUMAN

Protein

P2X purinoceptor 7

Gene

P2RX7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 4 (11 Jul 2012)
      Previous versions | rss
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    Functioni

    Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells.

    GO - Molecular functioni

    1. ATP binding Source: BHF-UCL
    2. extracellular ATP-gated cation channel activity Source: BHF-UCL
    3. lipopolysaccharide binding Source: BHF-UCL
    4. protein homodimerization activity Source: BHF-UCL
    5. purinergic nucleotide receptor activity Source: BHF-UCL
    6. receptor binding Source: BHF-UCL

    GO - Biological processi

    1. apoptotic signaling pathway Source: BHF-UCL
    2. bleb assembly Source: BHF-UCL
    3. cation transport Source: GOC
    4. cell surface receptor signaling pathway Source: BHF-UCL
    5. innate immune response Source: Reactome
    6. membrane depolarization Source: BHF-UCL
    7. negative regulation of bone resorption Source: BHF-UCL
    8. negative regulation of MAPK cascade Source: BHF-UCL
    9. nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Source: Reactome
    10. pore complex assembly Source: BHF-UCL
    11. positive regulation of bone mineralization Source: BHF-UCL
    12. positive regulation of calcium ion transport into cytosol Source: BHF-UCL
    13. positive regulation of cytolysis Source: BHF-UCL
    14. positive regulation of cytoskeleton organization Source: BHF-UCL
    15. positive regulation of interleukin-1 beta secretion Source: BHF-UCL
    16. purinergic nucleotide receptor signaling pathway Source: GOC
    17. regulation of killing of cells of other organism Source: BHF-UCL
    18. regulation of sodium ion transport Source: BHF-UCL
    19. response to ATP Source: BHF-UCL
    20. sensory perception of pain Source: BHF-UCL

    Keywords - Molecular functioni

    Ion channel, Ligand-gated ion channel, Receptor

    Keywords - Biological processi

    Ion transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_75808. The NLRP3 inflammasome.
    SignaLinkiQ99572.

    Protein family/group databases

    TCDBi1.A.7.1.3. the atp-gated p2x receptor cation channel (p2x receptor) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    P2X purinoceptor 7
    Short name:
    P2X7
    Alternative name(s):
    ATP receptor
    P2Z receptor
    Purinergic receptor
    Gene namesi
    Name:P2RX7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:8537. P2RX7.

    Subcellular locationi

    GO - Cellular componenti

    1. bleb Source: BHF-UCL
    2. cytoplasm Source: BHF-UCL
    3. integral component of nuclear inner membrane Source: RefGenome
    4. integral component of plasma membrane Source: BHF-UCL
    5. membrane Source: BHF-UCL
    6. plasma membrane Source: BHF-UCL

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi187 – 1871N → A: Alters cell surface expression. 1 Publication

    Organism-specific databases

    PharmGKBiPA32866.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 595595P2X purinoceptor 7PRO_0000161560Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi119 ↔ 168By similarity
    Modified residuei125 – 1251ADP-ribosylarginineBy similarity
    Disulfide bondi129 ↔ 152By similarity
    Modified residuei133 – 1331ADP-ribosylarginineBy similarity
    Disulfide bondi135 ↔ 162By similarity
    Glycosylationi187 – 1871N-linked (GlcNAc...)1 Publication
    Glycosylationi202 – 2021N-linked (GlcNAc...)1 Publication
    Glycosylationi213 – 2131N-linked (GlcNAc...)1 Publication
    Disulfide bondi216 ↔ 226By similarity
    Glycosylationi241 – 2411N-linked (GlcNAc...)1 Publication
    Disulfide bondi260 ↔ 269By similarity
    Glycosylationi284 – 2841N-linked (GlcNAc...)1 Publication
    Modified residuei343 – 3431Phosphotyrosine1 Publication

    Post-translational modificationi

    Phosphorylation results in its inactivation.1 Publication
    ADP-ribosylation at Arg-125 is necessary and sufficient to activate P2RX7 and gate the channel.By similarity
    Palmitoylation of several cysteines in the C-terminal cytoplasmic tail is required for efficient localization to cell surface.1 Publication

    Keywords - PTMi

    ADP-ribosylation, Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

    Proteomic databases

    PaxDbiQ99572.
    PRIDEiQ99572.

    PTM databases

    PhosphoSiteiQ99572.

    Expressioni

    Tissue specificityi

    Widely expressed with highest levels in brain and immune tissues.1 Publication

    Gene expression databases

    ArrayExpressiQ99572.
    BgeeiQ99572.
    CleanExiHS_P2RX7.
    GenevestigatoriQ99572.

    Organism-specific databases

    HPAiHPA034968.
    HPA044141.

    Interactioni

    Subunit structurei

    Functional P2XRs are organized as homomeric and heteromeric trimers. Interacts with LAMA3, ITGB2, ACTB, ACTN4, SVIL, MPP3, HSPA1, HSPCB, HSPA8, PIK230 and PTPRB.1 Publication

    Protein-protein interaction databases

    IntActiQ99572. 6 interactions.
    MINTiMINT-3972963.
    STRINGi9606.ENSP00000261826.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99572.
    SMRiQ99572. Positions 32-354.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2525CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini47 – 334288ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini356 – 595240CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei26 – 4621Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei335 – 35521Helical; Name=2Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the P2X receptor family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG38999.
    HOGENOMiHOG000232042.
    HOVERGENiHBG053086.
    InParanoidiQ99572.
    KOiK05220.
    OrthoDBiEOG78PV92.
    TreeFamiTF328633.

    Family and domain databases

    Gene3Di2.60.490.10. 1 hit.
    InterProiIPR003050. P2X7_purnocptor.
    IPR027309. P2X_extracellular_dom.
    IPR001429. P2X_purnocptor.
    [Graphical view]
    PANTHERiPTHR10125. PTHR10125. 1 hit.
    PTHR10125:SF13. PTHR10125:SF13. 1 hit.
    PfamiPF00864. P2X_receptor. 1 hit.
    [Graphical view]
    PRINTSiPR01314. P2X7RECEPTOR.
    PR01307. P2XRECEPTOR.
    TIGRFAMsiTIGR00863. P2X. 1 hit.
    PROSITEiPS01212. P2X_RECEPTOR. 1 hit.
    [Graphical view]

    Sequences (8)i

    Sequence statusi: Complete.

    This entry describes 8 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: Q99572-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPACCSCSDV FQYETNKVTR IQSMNYGTIK WFFHVIIFSY VCFALVSDKL    50
    YQRKEPVISS VHTKVKGIAE VKEEIVENGV KKLVHSVFDT ADYTFPLQGN 100
    SFFVMTNFLK TEGQEQRLCP EYPTRRTLCS SDRGCKKGWM DPQSKGIQTG 150
    RCVVYEGNQK TCEVSAWCPI EAVEEAPRPA LLNSAENFTV LIKNNIDFPG 200
    HNYTTRNILP GLNITCTFHK TQNPQCPIFR LGDIFRETGD NFSDVAIQGG 250
    IMGIEIYWDC NLDRWFHHCR PKYSFRRLDD KTTNVSLYPG YNFRYAKYYK 300
    ENNVEKRTLI KVFGIRFDIL VFGTGGKFDI IQLVVYIGST LSYFGLAAVF 350
    IDFLIDTYSS NCCRSHIYPW CKCCQPCVVN EYYYRKKCES IVEPKPTLKY 400
    VSFVDESHIR MVNQQLLGRS LQDVKGQEVP RPAMDFTDLS RLPLALHDTP 450
    PIPGQPEEIQ LLRKEATPRS RDSPVWCQCG SCLPSQLPES HRCLEELCCR 500
    KKPGACITTS ELFRKLVLSR HVLQFLLLYQ EPLLALDVDS TNSRLRHCAY 550
    RCYATWRFGS QDMADFAILP SCCRWRIRKE FPKSEGQYSG FKSPY 595
    Length:595
    Mass (Da):68,585
    Last modified:July 11, 2012 - v4
    Checksum:i584C17EF6D5EC899
    GO
    Isoform B (identifier: Q99572-2) [UniParc]FASTAAdd to Basket

    Also known as: Delta-C, cytoplasmic tail deleted

    The sequence of this isoform differs from the canonical sequence as follows:
         347-364: AAVFIDFLIDTYSSNCCR → VRDSLFHALGKWFGEGSD
         365-595: Missing.

    Note: Predominant form in many tissues.

    Show »
    Length:364
    Mass (Da):41,792
    Checksum:i3A9C0F1D110543FC
    GO
    Isoform C (identifier: Q99572-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         122-128: YPTRRTL → EFRPEGV
         129-595: Missing.

    Show »
    Length:128
    Mass (Da):14,749
    Checksum:iDBBA1D99D97E108E
    GO
    Isoform D (identifier: Q99572-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-7: MPACCSC → MDGPAEQ
         8-177: Missing.

    Show »
    Length:425
    Mass (Da):49,165
    Checksum:i9245A1363145ABD7
    GO
    Isoform E (identifier: Q99572-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         206-294: Missing.
         347-364: AAVFIDFLIDTYSSNCCR → VRDSLFHALGKWFGEGSD
         365-595: Missing.

    Show »
    Length:275
    Mass (Da):31,294
    Checksum:i6AE04D318BEB617C
    GO
    Isoform F (identifier: Q99572-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-3: MPA → MWQ
         4-292: Missing.

    Show »
    Length:306
    Mass (Da):35,544
    Checksum:i28004164298DC12A
    GO
    Isoform G (identifier: Q99572-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-98: MPACCSCSDV...DTADYTFPLQ → MTPGDHSW
         347-364: AAVFIDFLIDTYSSNCCR → VRDSLFHALGKWFGEGSD
         365-595: Missing.

    Show »
    Length:274
    Mass (Da):31,446
    Checksum:i48E9BBD37BFEFDA1
    GO
    Isoform H (identifier: Q99572-8) [UniParc]FASTAAdd to Basket

    Also known as: Delta-TM1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-98: MPACCSCSDV...DTADYTFPLQ → MTPGDHSW

    Note: Non-functional channel.

    Show »
    Length:505
    Mass (Da):58,239
    Checksum:iD65D70EADCE5702A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti481 – 4811S → R in CAA73360. (PubMed:9826911)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251N → S in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036444
    Natural varianti76 – 761V → A.
    Corresponds to variant rs17525809 [ dbSNP | Ensembl ].
    VAR_057665
    Natural varianti150 – 1501G → R.
    Corresponds to variant rs28360447 [ dbSNP | Ensembl ].
    VAR_057666
    Natural varianti155 – 1551Y → H.4 Publications
    Corresponds to variant rs208294 [ dbSNP | Ensembl ].
    VAR_019649
    Natural varianti270 – 2701R → C.
    Corresponds to variant rs16950860 [ dbSNP | Ensembl ].
    VAR_057667
    Natural varianti270 – 2701R → H.3 Publications
    Corresponds to variant rs7958311 [ dbSNP | Ensembl ].
    VAR_019648
    Natural varianti276 – 2761R → H.
    Corresponds to variant rs7958316 [ dbSNP | Ensembl ].
    VAR_057668
    Natural varianti307 – 3071R → Q Polymorphism that results in a loss of function.
    Corresponds to variant rs28360457 [ dbSNP | Ensembl ].
    VAR_057669
    Natural varianti348 – 3481A → T.1 Publication
    Corresponds to variant rs1718119 [ dbSNP | Ensembl ].
    VAR_057670
    Natural varianti357 – 3571T → S.1 Publication
    Corresponds to variant rs2230911 [ dbSNP | Ensembl ].
    VAR_019650
    Natural varianti430 – 4301P → R.
    Corresponds to variant rs10160951 [ dbSNP | Ensembl ].
    VAR_057671
    Natural varianti433 – 4331A → V.
    Corresponds to variant rs28360459 [ dbSNP | Ensembl ].
    VAR_057672
    Natural varianti460 – 4601Q → R.
    Corresponds to variant rs2230912 [ dbSNP | Ensembl ].
    VAR_019651
    Natural varianti496 – 4961E → A Polymorphism that results in a loss of function. 2 Publications
    Corresponds to variant rs3751143 [ dbSNP | Ensembl ].
    VAR_019652
    Natural varianti521 – 5211H → Q.
    Corresponds to variant rs2230913 [ dbSNP | Ensembl ].
    VAR_057673
    Natural varianti522 – 5221V → I.
    Corresponds to variant rs34219304 [ dbSNP | Ensembl ].
    VAR_057674
    Natural varianti568 – 5681I → N Polymorphism that results in trafficking defect and around 50% loss of function. 1 Publication
    Corresponds to variant rs1653624 [ dbSNP | Ensembl ].
    VAR_068011
    Natural varianti574 – 5741R → L in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036445
    Natural varianti578 – 5781R → Q.
    Corresponds to variant rs28360460 [ dbSNP | Ensembl ].
    VAR_057675

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9898MPACC…TFPLQ → MTPGDHSW in isoform G and isoform H. 1 PublicationVSP_047776Add
    BLAST
    Alternative sequencei1 – 77MPACCSC → MDGPAEQ in isoform D. 2 PublicationsVSP_047777
    Alternative sequencei1 – 33MPA → MWQ in isoform F. 1 PublicationVSP_047778
    Alternative sequencei4 – 292289Missing in isoform F. 1 PublicationVSP_047779Add
    BLAST
    Alternative sequencei8 – 177170Missing in isoform D. 2 PublicationsVSP_047780Add
    BLAST
    Alternative sequencei122 – 1287YPTRRTL → EFRPEGV in isoform C. 2 PublicationsVSP_047781
    Alternative sequencei129 – 595467Missing in isoform C. 2 PublicationsVSP_047782Add
    BLAST
    Alternative sequencei206 – 29489Missing in isoform E. 1 PublicationVSP_047783Add
    BLAST
    Alternative sequencei347 – 36418AAVFI…SNCCR → VRDSLFHALGKWFGEGSD in isoform B, isoform E and isoform G. 1 PublicationVSP_047784Add
    BLAST
    Alternative sequencei365 – 595231Missing in isoform B, isoform E and isoform G. 1 PublicationVSP_047785Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y09561 mRNA. Translation: CAA70755.1.
    Y12851
    , Y12852, Y12853, Y12854, Y12855 Genomic DNA. Translation: CAA73360.1.
    AY847298 mRNA. Translation: AAX82087.1.
    AY847299 mRNA. Translation: AAX82088.1.
    AY847300 mRNA. Translation: AAX82089.1.
    AY847301 mRNA. Translation: AAX82090.1.
    AY847302 mRNA. Translation: AAX82091.1.
    AY847303 mRNA. Translation: AAX82092.1.
    AY847304 mRNA. Translation: AAX82093.1.
    AK290405 mRNA. Translation: BAF83094.1.
    AK294126 mRNA. Translation: BAH11678.1.
    AC069209 Genomic DNA. No translation available.
    AC079602 Genomic DNA. No translation available.
    Z98941 Genomic DNA. No translation available.
    BC007679 mRNA. Translation: AAH07679.1.
    BC011913 mRNA. Translation: AAH11913.1.
    CCDSiCCDS9213.1. [Q99572-1]
    RefSeqiNP_002553.3. NM_002562.5. [Q99572-1]
    UniGeneiHs.729169.

    Genome annotation databases

    EnsembliENST00000535600; ENSP00000442470; ENSG00000089041. [Q99572-5]
    ENST00000541022; ENSP00000441230; ENSG00000089041. [Q99572-3]
    ENST00000541716; ENSP00000437729; ENSG00000089041. [Q99572-3]
    GeneIDi5027.
    KEGGihsa:5027.
    UCSCiuc001tzm.3. human. [Q99572-1]

    Polymorphism databases

    DMDMi395398617.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia

    P2X receptor entry

    Wikipedia

    P2RX7 entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y09561 mRNA. Translation: CAA70755.1 .
    Y12851
    , Y12852 , Y12853 , Y12854 , Y12855 Genomic DNA. Translation: CAA73360.1 .
    AY847298 mRNA. Translation: AAX82087.1 .
    AY847299 mRNA. Translation: AAX82088.1 .
    AY847300 mRNA. Translation: AAX82089.1 .
    AY847301 mRNA. Translation: AAX82090.1 .
    AY847302 mRNA. Translation: AAX82091.1 .
    AY847303 mRNA. Translation: AAX82092.1 .
    AY847304 mRNA. Translation: AAX82093.1 .
    AK290405 mRNA. Translation: BAF83094.1 .
    AK294126 mRNA. Translation: BAH11678.1 .
    AC069209 Genomic DNA. No translation available.
    AC079602 Genomic DNA. No translation available.
    Z98941 Genomic DNA. No translation available.
    BC007679 mRNA. Translation: AAH07679.1 .
    BC011913 mRNA. Translation: AAH11913.1 .
    CCDSi CCDS9213.1. [Q99572-1 ]
    RefSeqi NP_002553.3. NM_002562.5. [Q99572-1 ]
    UniGenei Hs.729169.

    3D structure databases

    ProteinModelPortali Q99572.
    SMRi Q99572. Positions 32-354.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q99572. 6 interactions.
    MINTi MINT-3972963.
    STRINGi 9606.ENSP00000261826.

    Chemistry

    BindingDBi Q99572.
    ChEMBLi CHEMBL4805.
    GuidetoPHARMACOLOGYi 484.

    Protein family/group databases

    TCDBi 1.A.7.1.3. the atp-gated p2x receptor cation channel (p2x receptor) family.

    PTM databases

    PhosphoSitei Q99572.

    Polymorphism databases

    DMDMi 395398617.

    Proteomic databases

    PaxDbi Q99572.
    PRIDEi Q99572.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000535600 ; ENSP00000442470 ; ENSG00000089041 . [Q99572-5 ]
    ENST00000541022 ; ENSP00000441230 ; ENSG00000089041 . [Q99572-3 ]
    ENST00000541716 ; ENSP00000437729 ; ENSG00000089041 . [Q99572-3 ]
    GeneIDi 5027.
    KEGGi hsa:5027.
    UCSCi uc001tzm.3. human. [Q99572-1 ]

    Organism-specific databases

    CTDi 5027.
    GeneCardsi GC12P121570.
    HGNCi HGNC:8537. P2RX7.
    HPAi HPA034968.
    HPA044141.
    MIMi 602566. gene.
    neXtProti NX_Q99572.
    PharmGKBi PA32866.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG38999.
    HOGENOMi HOG000232042.
    HOVERGENi HBG053086.
    InParanoidi Q99572.
    KOi K05220.
    OrthoDBi EOG78PV92.
    TreeFami TF328633.

    Enzyme and pathway databases

    Reactomei REACT_75808. The NLRP3 inflammasome.
    SignaLinki Q99572.

    Miscellaneous databases

    ChiTaRSi P2RX7. human.
    GeneWikii P2RX7.
    GenomeRNAii 5027.
    NextBioi 13635968.
    PROi Q99572.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99572.
    Bgeei Q99572.
    CleanExi HS_P2RX7.
    Genevestigatori Q99572.

    Family and domain databases

    Gene3Di 2.60.490.10. 1 hit.
    InterProi IPR003050. P2X7_purnocptor.
    IPR027309. P2X_extracellular_dom.
    IPR001429. P2X_purnocptor.
    [Graphical view ]
    PANTHERi PTHR10125. PTHR10125. 1 hit.
    PTHR10125:SF13. PTHR10125:SF13. 1 hit.
    Pfami PF00864. P2X_receptor. 1 hit.
    [Graphical view ]
    PRINTSi PR01314. P2X7RECEPTOR.
    PR01307. P2XRECEPTOR.
    TIGRFAMsi TIGR00863. P2X. 1 hit.
    PROSITEi PS01212. P2X_RECEPTOR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The permeabilizing ATP receptor, P2X7. Cloning and expression of a human cDNA."
      Rassendren F., Buell G.N., Virginio C., Collo G., North R.A., Surprenant A.
      J. Biol. Chem. 272:5482-5486(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), VARIANTS HIS-155 AND HIS-270.
      Tissue: Brain.
    2. "Gene structure and chromosomal localization of the human P2X7 receptor."
      Buell G.N., Talabot F., Gos A., Lorenz J., Lai E., Morris M.A., Antonarakis S.E.
      Recept. Channels 5:347-354(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HIS-155 AND THR-348.
    3. "Identification and characterization of splice variants of the human P2X7 ATP channel."
      Cheewatrakoolpong B., Gilchrest H., Anthes J.C., Greenfeder S.
      Biochem. Biophys. Res. Commun. 332:17-27(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS B; C; D; E; F; G AND H), ALTERNATIVE SPLICING, TISSUE SPECIFICITY, VARIANTS HIS-155 AND HIS-270.
      Tissue: Brain.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND C), VARIANT SER-357.
      Tissue: Brain and Umbilical cord blood.
    5. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASN-568.
    6. "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] (ISOFORMS A AND D), VARIANTS HIS-155; HIS-270 AND ALA-496.
      Tissue: Brain and Skin.
    7. "Proteomic and functional evidence for a P2X7 receptor signalling complex."
      Kim M., Jiang L.H., Wilson H.L., North R.A., Surprenant A.
      EMBO J. 20:6347-6358(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT TYR-343, INTERACTION WITH LAMA3; ITGB2; ACTB; ACTN4; SVIL; MPP3; HSPA1; HSPCB; HSPA8; PIK230 AND PTPRB.
    8. "Palmitoylation of the P2X7 receptor, an ATP-gated channel, controls its expression and association with lipid rafts."
      Gonnord P., Delarasse C., Auger R., Benihoud K., Prigent M., Cuif M.H., Lamaze C., Kanellopoulos J.M.
      FASEB J. 23:795-805(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PALMITOYLATION.
    9. "Mutation of putative N-linked glycosylation sites on the human nucleotide receptor P2X7 reveals a key residue important for receptor function."
      Lenertz L.Y., Wang Z., Guadarrama A., Hill L.M., Gavala M.L., Bertics P.J.
      Biochemistry 49:4611-4619(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION AT ASN-187; ASN-202; ASN-213; ASN-241 AND ASN-284, MUTAGENESIS OF ASN-187.
    10. "A Glu-496 to Ala polymorphism leads to loss of function of the human P2X7 receptor."
      Gu B.J., Zhang W., Worthington R.A., Sluyter R., Dao-Ung P., Petrou S., Barden J.A., Wiley J.S.
      J. Biol. Chem. 276:11135-11142(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALA-496.
    11. "An Ile-568 to Asn polymorphism prevents normal trafficking and function of the human P2X7 receptor."
      Wiley J.S., Dao-Ung L.P., Li C., Shemon A.N., Gu B.J., Smart M.L., Fuller S.J., Barden J.A., Petrou S., Sluyter R.
      J. Biol. Chem. 278:17108-17113(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT ASN-568.
    12. "An Arg307 to Gln polymorphism within the ATP-binding site causes loss of function of the human P2X7 receptor."
      Gu B.J., Sluyter R., Skarratt K.K., Shemon A.N., Dao-Ung L.P., Fuller S.J., Barden J.A., Clarke A.L., Petrou S., Wiley J.S.
      J. Biol. Chem. 279:31287-31295(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT GLN-307.
    13. Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-25 AND LEU-574.

    Entry informationi

    Entry nameiP2RX7_HUMAN
    AccessioniPrimary (citable) accession number: Q99572
    Secondary accession number(s): A8K2Z0
    , E7EMK6, F5H6P2, F5H7E8, F8W951, O14991, Q4VKH8, Q4VKH9, Q4VKI0, Q4VKI1, Q4VKI2, Q4VKI3, Q4VKI4, Q7Z771, Q96EV7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: July 11, 2012
    Last modified: October 1, 2014
    This is version 144 of the entry and version 4 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 12
      Human chromosome 12: 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