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P51575

- P2RX1_HUMAN

UniProt

P51575 - P2RX1_HUMAN

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Protein
P2X purinoceptor 1
Gene
P2RX1, P2X1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2828Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei29 – 5022Helical; Name=1; Reviewed prediction
Add
BLAST
Topological domaini51 – 338288Extracellular Reviewed prediction
Add
BLAST
Transmembranei339 – 35820Helical; Name=2; Reviewed prediction
Add
BLAST
Topological domaini359 – 39941Cytoplasmic Reviewed prediction
Add
BLAST

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
Complete GO annotation...

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 1
PRO_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...) Reviewed prediction
Glycosylationi184 – 1841N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi217 ↔ 2271 Publication
Glycosylationi242 – 2421N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi261 ↔ 2701 Publication
Glycosylationi300 – 3001N-linked (GlcNAc...) Reviewed prediction
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.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni331 – 3388Pore-forming motif Reviewed prediction

Compositional bias

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

Sequence similaritiesi

Belongs to the P2X receptor family.

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 125 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

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