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Q99571 (P2RX4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 132. Feed History...

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

Names and origin

Protein namesRecommended name:
P2X purinoceptor 4

Short name=P2X4
Alternative name(s):
ATP receptor
Purinergic receptor
Gene names
Name:P2RX4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length388 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the antagonists PPADS and suramin. Ref.9

Subunit structure

Functional P2XRs are organized as homomeric and heteromeric trimers By similarity.

Subcellular location

Membrane; Multi-pass membrane protein Ref.9.

Sequence similarities

Belongs to the P2X receptor family.

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionIon channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapoptotic signaling pathway

Inferred from direct assay PubMed 17264311. Source: BHF-UCL

cation transport

Inferred from direct assay Ref.9Ref.1. Source: GOC

cellular response to ATP

Inferred from direct assay Ref.9. Source: UniProtKB

endothelial cell activation

Traceable author statement PubMed 12088286. Source: BHF-UCL

ion transmembrane transport

Inferred from direct assay Ref.9. Source: UniProtKB

membrane depolarization

Inferred from direct assay Ref.1. Source: BHF-UCL

negative regulation of cardiac muscle hypertrophy

Inferred from mutant phenotype PubMed 15130891. Source: BHF-UCL

positive regulation of calcium ion transport

Non-traceable author statement PubMed 15130891. Source: BHF-UCL

positive regulation of calcium ion transport into cytosol

Inferred from direct assay PubMed 10969036. Source: BHF-UCL

positive regulation of calcium-mediated signaling

Inferred from direct assay PubMed 10969036. Source: BHF-UCL

positive regulation of nitric oxide biosynthetic process

Non-traceable author statement PubMed 10899068. Source: BHF-UCL

positive regulation of prostaglandin secretion

Non-traceable author statement PubMed 10899068. Source: BHF-UCL

purinergic nucleotide receptor signaling pathway

Inferred from mutant phenotype PubMed 11606481. Source: BHF-UCL

regulation of blood pressure

Inferred from mutant phenotype PubMed 11606481PubMed 15130891. Source: BHF-UCL

regulation of cardiac muscle contraction

Inferred from mutant phenotype PubMed 11606481PubMed 15130891. Source: BHF-UCL

regulation of sodium ion transport

Inferred from sequence or structural similarity PubMed 17785580. Source: BHF-UCL

relaxation of cardiac muscle

Inferred from mutant phenotype PubMed 11606481PubMed 15130891. Source: BHF-UCL

response to ATP

Inferred from direct assay Ref.1. Source: BHF-UCL

response to fluid shear stress

Inferred from direct assay PubMed 10969036. Source: BHF-UCL

sensory perception of pain

Inferred from sequence or structural similarity PubMed 14978347. Source: BHF-UCL

signal transduction

Inferred from direct assay Ref.1. Source: BHF-UCL

tissue homeostasis

Non-traceable author statement PubMed 17264311. Source: BHF-UCL

transport

Inferred from direct assay Ref.1. Source: BHF-UCL

   Cellular_componentcell junction

Inferred from direct assay PubMed 12088286. Source: BHF-UCL

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

integral component of nuclear inner membrane

Inferred from Biological aspect of Ancestor. Source: RefGenome

integral component of plasma membrane

Inferred from mutant phenotype Ref.9. Source: UniProtKB

lysosomal membrane

Inferred from direct assay PubMed 17897319. Source: UniProtKB

membrane

Inferred from direct assay PubMed 17785580. Source: BHF-UCL

perinuclear region of cytoplasm

Inferred from direct assay PubMed 12088286. Source: BHF-UCL

plasma membrane

Inferred from sequence or structural similarity PubMed 17785580. Source: BHF-UCL

   Molecular_functionATP binding

Inferred by curator PubMed 11606481. Source: BHF-UCL

cadherin binding

Inferred from physical interaction PubMed 12088286. Source: BHF-UCL

copper ion binding

Inferred from sequence or structural similarity PubMed 12819199. Source: BHF-UCL

extracellular ATP-gated cation channel activity

Inferred from direct assay Ref.9. Source: UniProtKB

protein homodimerization activity

Non-traceable author statement PubMed 17895406. Source: BHF-UCL

purinergic nucleotide receptor activity

Inferred from direct assay Ref.1. Source: BHF-UCL

receptor binding

Inferred from sequence or structural similarity PubMed 17785580. Source: BHF-UCL

zinc ion binding

Inferred from sequence or structural similarity PubMed 12819199. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q99571-1)

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.
Isoform 2 (identifier: Q99571-2)

The sequence of this isoform differs from the canonical sequence as follows:
     45-45: G → GCYHPHLAEVEMESPRR
Note: No experimental confirmation available.
Isoform 3 (identifier: Q99571-3)

The sequence of this isoform differs from the canonical sequence as follows:
     149-175: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 388388P2X purinoceptor 4
PRO_0000161553

Regions

Topological domain1 – 3333Cytoplasmic Potential
Transmembrane34 – 5421Helical; Name=1; Potential
Topological domain55 – 338284Extracellular Potential
Transmembrane339 – 35921Helical; Name=2; Potential
Topological domain360 – 38829Cytoplasmic Potential

Amino acid modifications

Glycosylation751N-linked (GlcNAc...) Potential
Glycosylation1101N-linked (GlcNAc...) Potential
Glycosylation1531N-linked (GlcNAc...) Potential
Glycosylation1841N-linked (GlcNAc...) Ref.10
Glycosylation1991N-linked (GlcNAc...) Potential
Glycosylation2081N-linked (GlcNAc...) Potential
Disulfide bond116 ↔ 165 By similarity
Disulfide bond126 ↔ 149 By similarity
Disulfide bond132 ↔ 159 By similarity
Disulfide bond217 ↔ 227 By similarity
Disulfide bond261 ↔ 270 By similarity

Natural variations

Alternative sequence451G → GCYHPHLAEVEMESPRR in isoform 2.
VSP_053812
Alternative sequence149 – 17527Missing in isoform 3.
VSP_053813
Natural variant61A → S. Ref.1 Ref.3 Ref.4
Corresponds to variant rs1044249 [ dbSNP | Ensembl ].
VAR_028307
Natural variant2421S → G. Ref.6
Corresponds to variant rs25644 [ dbSNP | Ensembl ].
VAR_014942

Experimental info

Sequence conflict1211D → S in AAB66834. Ref.8
Sequence conflict1481R → W in AAB66834. Ref.8
Sequence conflict1791L → F in AAB66834. Ref.8
Sequence conflict2381N → I in AAB66834. Ref.8
Sequence conflict3151Y → C in AAB58405. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: BA3BE7F30114C2A5

FASTA38843,369
        10         20         30         40         50         60 
MAGCCAALAA FLFEYDTPRI VLIRSRKVGL MNRAVQLLIL AYVIGWVFVW EKGYQETDSV 

        70         80         90        100        110        120 
VSSVTTKVKG VAVTNTSKLG FRIWDVADYV IPAQEENSLF VMTNVILTMN QTQGLCPEIP 

       130        140        150        160        170        180 
DATTVCKSDA SCTAGSAGTH SNGVSTGRCV AFNGSVKTCE VAAWCPVEDD THVPQPAFLK 

       190        200        210        220        230        240 
AAENFTLLVK NNIWYPKFNF SKRNILPNIT TTYLKSCIYD AKTDPFCPIF RLGKIVENAG 

       250        260        270        280        290        300 
HSFQDMAVEG GIMGIQVNWD CNLDRAASLC LPRYSFRRLD TRDVEHNVSP GYNFRFAKYY 

       310        320        330        340        350        360 
RDLAGNEQRT LIKAYGIRFD IIVFGKAGKF DIIPTMINIG SGLALLGMAT VLCDIIVLYC 

       370        380 
MKKRLYYREK KYKYVEDYEQ GLASELDQ 

« Hide

Isoform 2 [UniParc].

Checksum: 0A8CB40D3D899F21
Show »

FASTA40445,305
Isoform 3 [UniParc].

Checksum: 9D09FA497870DDB1
Show »

FASTA36140,481

References

« Hide 'large scale' references
[1]"Characterization of recombinant human P2X4 receptor reveals pharmacological differences to the rat homologue."
Garcia-Guzman M., Soto F., Gomez-Hernandez J.M., Lund P.E., Stuhmer W.
Mol. Pharmacol. 51:109-118(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-6.
Tissue: Brain.
[2]"Transcription map of the 5cM region surrounding the hepatocyte nuclear factor-1a/MODY3 gene on chromosome 12."
Yamagata K., Oda N., Furuta H., Vaxillaire M., Southam L., Boriraj V., Chen X., Oda Y., Takeda J., Yamada S., Nishigori H., Lebeau M.M., Lathrop M., Cox R.D., Bell G.I.
Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
[3]"Shear stress downregulates the expression of P2X4 receptor by human endothelial cells."
Korenaga R., Yamamoto K., Kamiya A., Ando J.
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT SER-6.
[4]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT SER-6.
[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. expand/collapse author list , 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].
[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] (ISOFORM 1), VARIANT GLY-242.
Tissue: Blood.
[7]"Human P2X purinoceptor."
Takahashi K., Korenaga R., Kamiya A., Ando J.
Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 35-388 (ISOFORM 1).
[8]"Cloning of P2X4 cDNA from human embryonic kidney (HEK) 293 cells."
Chang A.S., Chang S.M.
Submitted (JUL-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 73-326 (ISOFORM 1).
Tissue: Kidney.
[9]"Site-specific splice variation of the human P2X4 receptor."
Carpenter D., Meadows H.J., Brough S., Chapman G., Clarke C., Coldwell M., Davis R., Harrison D., Meakin J., McHale M., Rice S.Q., Tomlinson W.J., Wood M., Sanger G.J.
Neurosci. Lett. 273:183-186(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), FUNCTION, SUBCELLULAR LOCATION.
[10]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-184.
Tissue: Liver.

Web resources

Wikipedia

P2X receptor entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Y07684 mRNA. Translation: CAA68948.1.
U87270 expand/collapse EMBL AC list , U85971, U85972, U85973, U85974, U85975 Genomic DNA. Translation: AAD00556.1.
U83993 mRNA. Translation: AAD00553.1.
AF191093 Genomic DNA. Translation: AAF06661.1.
BT019738 mRNA. Translation: AAV38543.1.
BT019739 mRNA. Translation: AAV38544.1.
AC069209 Genomic DNA. No translation available.
BC033826 mRNA. Translation: AAH33826.1.
AF000234 mRNA. Translation: AAB58405.1.
AF012903 mRNA. Translation: AAB66834.1.
CCDSCCDS9214.1.
RefSeqNP_001243725.1. NM_001256796.1. [Q99571-2]
NP_001248326.1. NM_001261397.1. [Q99571-3]
NP_002551.2. NM_002560.2. [Q99571-1]
UniGeneHs.321709.

3D structure databases

ProteinModelPortalQ99571.
SMRQ99571. Positions 31-358.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111064. 2 interactions.
IntActQ99571. 3 interactions.
STRING9606.ENSP00000336607.

Chemistry

BindingDBQ99571.
ChEMBLCHEMBL2104.
GuidetoPHARMACOLOGY481.

Protein family/group databases

TCDB1.A.7.1.5. the atp-gated p2x receptor cation channel (p2x receptor) family.

PTM databases

PhosphoSiteQ99571.

Polymorphism databases

DMDM116242696.

Proteomic databases

MaxQBQ99571.
PaxDbQ99571.
PRIDEQ99571.

Protocols and materials databases

DNASU5025.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000337233; ENSP00000336607; ENSG00000135124.
ENST00000359949; ENSP00000353032; ENSG00000135124.
ENST00000542067; ENSP00000438329; ENSG00000135124.
GeneID5025.
KEGGhsa:5025.
UCSCuc001tzr.3. human. [Q99571-1]

Organism-specific databases

CTD5025.
GeneCardsGC12P121647.
HGNCHGNC:8535. P2RX4.
HPAHPA039494.
MIM600846. gene.
neXtProtNX_Q99571.
PharmGKBPA32864.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG47843.
HOGENOMHOG000232042.
HOVERGENHBG053086.
InParanoidQ99571.
KOK05218.
OMATMINVGS.
OrthoDBEOG78PV92.
PhylomeDBQ99571.
TreeFamTF328633.

Gene expression databases

ArrayExpressQ99571.
BgeeQ99571.
CleanExHS_P2RX4.
GenevestigatorQ99571.

Family and domain databases

Gene3D2.60.490.10. 1 hit.
InterProIPR003047. P2X4_purnocptor.
IPR027309. P2X_extracellular_dom.
IPR001429. P2X_purnocptor.
[Graphical view]
PANTHERPTHR10125. PTHR10125. 1 hit.
PTHR10125:SF18. PTHR10125:SF18. 1 hit.
PfamPF00864. P2X_receptor. 1 hit.
[Graphical view]
PRINTSPR01311. P2X4RECEPTOR.
PR01307. P2XRECEPTOR.
TIGRFAMsTIGR00863. P2X. 1 hit.
PROSITEPS01212. P2X_RECEPTOR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSP2RX4. human.
GeneWikiP2RX4.
GenomeRNAi5025.
NextBio19346.
PROQ99571.
SOURCESearch...

Entry information

Entry nameP2RX4_HUMAN
AccessionPrimary (citable) accession number: Q99571
Secondary accession number(s): E7EPF7 expand/collapse secondary AC list , F6RU17, O00450, O14722, Q5U089, Q5U090, Q8N4N1, Q9UBG9
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 132 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM