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UniProtKB - Q99572 (P2RX7_HUMAN)

Entry version 187 (08 May 2019)
Sequence version 4 (11 Jul 2012)
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Protein

P2X purinoceptor 7

Gene

P2RX7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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. In the absence of its natural ligand, ATP, functions as a scavenger receptor in the recognition and engulfment of apoptotic cells (PubMed:21821797, PubMed:23303206).3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-139853 Elevation of cytosolic Ca2+ levels
R-HSA-418346 Platelet homeostasis
R-HSA-844456 The NLRP3 inflammasome

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q99572

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q99572

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
P2X purinoceptor 7
Short name:
P2X7
Alternative name(s):
ATP receptor
P2Z receptor
Purinergic receptor
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:P2RX7
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8537 P2RX7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602566 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q99572

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 25CytoplasmicSequence analysisAdd BLAST25
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei26 – 46Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini47 – 334ExtracellularSequence analysisAdd BLAST288
Transmembranei335 – 355Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini356 – 595CytoplasmicSequence analysisAdd BLAST240

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi187N → A: Alters cell surface expression. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		5027

MalaCards human disease database

More...MalaCardsi		P2RX7

Open Targets

More...OpenTargetsi		ENSG00000089041

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		67038 B-cell chronic lymphocytic leukemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA32866

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4805

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		484

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		P2RX7

Domain mapping of disease mutations (DMDM)

More...DMDMi		395398617

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001615601 – 595P2X purinoceptor 7Add BLAST595

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi119 ↔ 168By similarity
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei125ADP-ribosylarginineBy similarity1
Disulfide bondi129 ↔ 152By similarity
Modified residuei133ADP-ribosylarginineBy similarity1
Disulfide bondi135 ↔ 162By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi187N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi202N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi213N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi216 ↔ 226By similarity
Glycosylationi241N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi260 ↔ 269By similarity
Glycosylationi284N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei343Phosphotyrosine1 Publication1
Modified residuei390PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q99572

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q99572

PeptideAtlas

More...PeptideAtlasi		Q99572

PRoteomics IDEntifications database

More...PRIDEi		Q99572

ProteomicsDB human proteome resource

More...ProteomicsDBi		78332

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1591

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q99572

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q99572

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q99572

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000089041 Expressed in 180 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q99572 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q99572 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA034967
HPA034968
HPA042013
HPA044141

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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. Interacts (via C-terminus) with EMP2 (PubMed:12107182).2 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111066, 5 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q99572

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q99572

Protein interaction database and analysis system

More...IntActi		Q99572, 16 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000330696

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q99572

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q99572

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the P2X receptor family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IK4U Eukaryota
ENOG4110DDY LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182706

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000232042

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q99572

KEGG Orthology (KO)

More...KOi		K05220

Identification of Orthologs from Complete Genome Data

More...OMAi		KPGACIT

Database of Orthologous Groups

More...OrthoDBi		1128763at2759

TreeFam database of animal gene trees

More...TreeFami		TF328633

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.490.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003050 P2X7_purinoceptor
IPR027309 P2X_extracellular_dom_sf
IPR001429 P2X_purnocptor

The PANTHER Classification System

More...PANTHERi		PTHR10125:SF13 PTHR10125:SF13, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01314 P2X7RECEPTOR
PR01307 P2XRECEPTOR

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00863 P2X, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01212 P2X_RECEPTOR, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 8 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MPACCSCSDV FQYETNKVTR IQSMNYGTIK WFFHVIIFSY VCFALVSDKL 
        60         70         80         90        100
YQRKEPVISS VHTKVKGIAE VKEEIVENGV KKLVHSVFDT ADYTFPLQGN 
       110        120        130        140        150
SFFVMTNFLK TEGQEQRLCP EYPTRRTLCS SDRGCKKGWM DPQSKGIQTG 
       160        170        180        190        200
RCVVYEGNQK TCEVSAWCPI EAVEEAPRPA LLNSAENFTV LIKNNIDFPG 
       210        220        230        240        250
HNYTTRNILP GLNITCTFHK TQNPQCPIFR LGDIFRETGD NFSDVAIQGG 
       260        270        280        290        300
IMGIEIYWDC NLDRWFHHCR PKYSFRRLDD KTTNVSLYPG YNFRYAKYYK 
       310        320        330        340        350
ENNVEKRTLI KVFGIRFDIL VFGTGGKFDI IQLVVYIGST LSYFGLAAVF 
       360        370        380        390        400
IDFLIDTYSS NCCRSHIYPW CKCCQPCVVN EYYYRKKCES IVEPKPTLKY 
       410        420        430        440        450
VSFVDESHIR MVNQQLLGRS LQDVKGQEVP RPAMDFTDLS RLPLALHDTP 
       460        470        480        490        500
PIPGQPEEIQ LLRKEATPRS RDSPVWCQCG SCLPSQLPES HRCLEELCCR 
       510        520        530        540        550
KKPGACITTS ELFRKLVLSR HVLQFLLLYQ EPLLALDVDS TNSRLRHCAY 
       560        570        580        590 
RCYATWRFGS QDMADFAILP SCCRWRIRKE FPKSEGQYSG FKSPY
Length:595
Mass (Da):68,585
Last modified:July 11, 2012 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H2X6F5H2X6_HUMAN
P2X purinoceptor 7
P2RX7
127Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H8E7F5H8E7_HUMAN
P2X purinoceptor 7
P2RX7
258Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KN30J3KN30_HUMAN
P2X purinoceptor 7
P2RX7
149Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H237F5H237_HUMAN
P2X purinoceptor 7
P2RX7
47Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti481S → R in CAA73360 (PubMed:9826911).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03644425N → S in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_05766576V → A2 PublicationsCorresponds to variant dbSNP:rs17525809Ensembl.1
Natural variantiVAR_079880117R → W1 PublicationCorresponds to variant dbSNP:rs28360445Ensembl.1
Natural variantiVAR_079881125R → L1 PublicationCorresponds to variant dbSNP:rs201668926Ensembl.1
Natural variantiVAR_079882148Q → R1 PublicationCorresponds to variant dbSNP:rs150235326Ensembl.1
Natural variantiVAR_057666150G → R Decreases cell surface expression; decreases phagocytosis activity. 2 PublicationsCorresponds to variant dbSNP:rs28360447Ensembl.1
Natural variantiVAR_019649155Y → H6 PublicationsCorresponds to variant dbSNP:rs208294Ensembl.1
Natural variantiVAR_079883205T → M Polymorphism; may influence susceptibility to multiple sclerosis in the presence of variant S-135 in P2RX4; decreases cell surface expression; decreases pore complex assembly; decreases phagocytosis activity. 1 PublicationCorresponds to variant dbSNP:rs140915863Ensembl.1
Natural variantiVAR_079884264R → H1 PublicationCorresponds to variant dbSNP:rs149639375Ensembl.1
Natural variantiVAR_057667270R → C. Corresponds to variant dbSNP:rs16950860Ensembl.1
Natural variantiVAR_019648270R → H5 PublicationsCorresponds to variant dbSNP:rs7958311Ensembl.1
Natural variantiVAR_057668276R → H2 PublicationsCorresponds to variant dbSNP:rs7958316Ensembl.1
Natural variantiVAR_079885288Y → H1 PublicationCorresponds to variant dbSNP:rs146725537Ensembl.1
Natural variantiVAR_057669307R → Q Polymorphism; results in a loss of function. 3 PublicationsCorresponds to variant dbSNP:rs28360457Ensembl.1
Natural variantiVAR_057670348A → T3 PublicationsCorresponds to variant dbSNP:rs1718119Ensembl.1
Natural variantiVAR_019650357T → S3 PublicationsCorresponds to variant dbSNP:rs2230911Ensembl.1
Natural variantiVAR_079886361N → S Polymorphism; may influence susceptibility to multiple sclerosis in the presence of variant S-135 in P2RX4; no effect on cell surface expression; no effect on pore complex assembly. 1 PublicationCorresponds to variant dbSNP:rs201921967Ensembl.1
Natural variantiVAR_057671430P → R. Corresponds to variant dbSNP:rs10160951Ensembl.1
Natural variantiVAR_057672433A → V1 PublicationCorresponds to variant dbSNP:rs28360459Ensembl.1
Natural variantiVAR_019651460Q → R2 PublicationsCorresponds to variant dbSNP:rs2230912Ensembl.1
Natural variantiVAR_019652496E → A Polymorphism; results in a loss of function. 4 PublicationsCorresponds to variant dbSNP:rs3751143Ensembl.1
Natural variantiVAR_057673521H → Q1 PublicationCorresponds to variant dbSNP:rs2230913Ensembl.1
Natural variantiVAR_057674522V → I1 PublicationCorresponds to variant dbSNP:rs34219304Ensembl.1
Natural variantiVAR_079887535A → V1 PublicationCorresponds to variant dbSNP:rs201256156Ensembl.1
Natural variantiVAR_079888544R → Q1 PublicationCorresponds to variant dbSNP:rs34567077Ensembl.1
Natural variantiVAR_068011568I → N Polymorphism; results in trafficking defect and around 50% loss of function. 4 PublicationsCorresponds to variant dbSNP:rs1653624Ensembl.1
Natural variantiVAR_036445574R → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_057675578R → Q. Corresponds to variant dbSNP:rs28360460EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0477761 – 98MPACC…TFPLQ → MTPGDHSW in isoform G and isoform H. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_0477771 – 7MPACCSC → MDGPAEQ in isoform D. 2 Publications7
Alternative sequenceiVSP_0477781 – 3MPA → MWQ in isoform F. 1 Publication3
Alternative sequenceiVSP_0477794 – 292Missing in isoform F. 1 PublicationAdd BLAST289
Alternative sequenceiVSP_0477808 – 177Missing in isoform D. 2 PublicationsAdd BLAST170
Alternative sequenceiVSP_047781122 – 128YPTRRTL → EFRPEGV in isoform C. 2 Publications7
Alternative sequenceiVSP_047782129 – 595Missing in isoform C. 2 PublicationsAdd BLAST467
Alternative sequenceiVSP_047783206 – 294Missing in isoform E. 1 PublicationAdd BLAST89
Alternative sequenceiVSP_047784347 – 364AAVFI…SNCCR → VRDSLFHALGKWFGEGSD in isoform B, isoform E and isoform G. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_047785365 – 595Missing in isoform B, isoform E and isoform G. 1 PublicationAdd BLAST231

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9213.1 [Q99572-1]

NCBI Reference Sequences

More...RefSeqi		NP_002553.3, NM_002562.5 [Q99572-1]
XP_011536722.1, XM_011538420.2 [Q99572-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000328963; ENSP00000330696; ENSG00000089041 [Q99572-1]
ENST00000535250; ENSP00000442572; ENSG00000089041 [Q99572-2]
ENST00000535600; ENSP00000442470; ENSG00000089041 [Q99572-5]
ENST00000541022; ENSP00000441230; ENSG00000089041 [Q99572-3]
ENST00000541716; ENSP00000437729; ENSG00000089041 [Q99572-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5027

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5027

UCSC genome browser

More...UCSCi		uc001tzm.4 human [Q99572-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Wikipedia

P2X receptor entry

Wikipedia

P2RX7 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_011536722.1, XM_011538420.2 [Q99572-6]

3D structure databases

SMRiQ99572
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111066, 5 interactors
CORUMiQ99572
ELMiQ99572
IntActiQ99572, 16 interactors
STRINGi9606.ENSP00000330696

Chemistry databases

BindingDBiQ99572
ChEMBLiCHEMBL4805
GuidetoPHARMACOLOGYi484

Protein family/group databases

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

PTM databases

GlyConnecti1591
iPTMnetiQ99572
PhosphoSitePlusiQ99572
SwissPalmiQ99572

Polymorphism and mutation databases

BioMutaiP2RX7
DMDMi395398617

Proteomic databases

jPOSTiQ99572
PaxDbiQ99572
PeptideAtlasiQ99572
PRIDEiQ99572
ProteomicsDBi78332

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		5027
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328963; ENSP00000330696; ENSG00000089041 [Q99572-1]
ENST00000535250; ENSP00000442572; ENSG00000089041 [Q99572-2]
ENST00000535600; ENSP00000442470; ENSG00000089041 [Q99572-5]
ENST00000541022; ENSP00000441230; ENSG00000089041 [Q99572-3]
ENST00000541716; ENSP00000437729; ENSG00000089041 [Q99572-3]
GeneIDi5027
KEGGihsa:5027
UCSCiuc001tzm.4 human [Q99572-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5027
DisGeNETi5027

GeneCards: human genes, protein and diseases

More...GeneCardsi		P2RX7

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0011077
HGNCiHGNC:8537 P2RX7
HPAiHPA034967
HPA034968
HPA042013
HPA044141
MalaCardsiP2RX7
MIMi602566 gene
neXtProtiNX_Q99572
OpenTargetsiENSG00000089041
Orphaneti67038 B-cell chronic lymphocytic leukemia
PharmGKBiPA32866

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IK4U Eukaryota
ENOG4110DDY LUCA
GeneTreeiENSGT00950000182706
HOGENOMiHOG000232042
InParanoidiQ99572
KOiK05220
OMAiKPGACIT
OrthoDBi1128763at2759
TreeFamiTF328633

Enzyme and pathway databases

ReactomeiR-HSA-139853 Elevation of cytosolic Ca2+ levels
R-HSA-418346 Platelet homeostasis
R-HSA-844456 The NLRP3 inflammasome
SignaLinkiQ99572
SIGNORiQ99572

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		P2RX7 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		P2RX7

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5027

Protein Ontology

More...PROi		PR:Q99572

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000089041 Expressed in 180 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ99572 baseline and differential
GenevisibleiQ99572 HS

Family and domain databases

Gene3Di2.60.490.10, 1 hit
InterProiView protein in InterPro
IPR003050 P2X7_purinoceptor
IPR027309 P2X_extracellular_dom_sf
IPR001429 P2X_purnocptor
PANTHERiPTHR10125:SF13 PTHR10125:SF13, 1 hit
PRINTSiPR01314 P2X7RECEPTOR
PR01307 P2XRECEPTOR
TIGRFAMsiTIGR00863 P2X, 1 hit
PROSITEiView protein in PROSITE
PS01212 P2X_RECEPTOR, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiP2RX7_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99572
Secondary accession number(s): A8K2Z0
, E7EMK6, F5H6P2, F5H7E8, F8W951, O14991, Q4VKH8, Q4VKH9, Q4VKI0, Q4VKI1, Q4VKI2, Q4VKI3, Q4VKI4, Q7Z771, Q96EV7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 11, 2012
Last modified: May 8, 2019
This is version 187 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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