Reviewed, UniProtKB/Swiss-Prot P51575 (P2RX1_HUMAN)

Names and origin

Protein names

Recommended name:
    P2X purinoceptor 1
      Short name=P2X1
Alternative name(s):
    ATP receptor
    Purinergic receptor

Gene names

Name:	P2RX1
Synonyms:	P2X1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	399 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	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.
Subunit structure	Homo- or heteropolymers By similarity.
Subcellular location	Membrane; Multi-pass membrane protein.
Involvement in disease	Defects in P2RX1 are a cause of bleeding disorder [MIM:600845]. Ref.7
Sequence similarities	Belongs to the P2X receptor family.

Ontologies

Keywords
Biological process	Apoptosis Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Transmembrane
Molecular function	Ionic channel Receptor
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	ion transport Ref.1 Inferred from direct assay. Source: MGI signal transduction Ref.3 Traceable author statement. Source: ProtInc
Cellular component	integral to plasma membrane Ref.3 Traceable author statement. Source: ProtInc
Molecular function	ATP binding Inferred from electronic annotation. Source: InterPro ATP-gated cation channel activity Ref.3 Traceable author statement. Source: ProtInc protein heterodimerization activity Non-traceable author statement. Source: UniProtKB protein homodimerization activity Non-traceable author statement. Source: UniProtKB purinergic nucleotide receptor activity Ref.1 Inferred from direct assay. Source: MGI
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 399	399	P2X purinoceptor 1		PRO_0000161545
Regions
	Topological domain	1 – 28	28	Cytoplasmic Potential
	Transmembrane	29 – 50	22	1 Potential
	Topological domain	51 – 338	288	Extracellular Potential
	Transmembrane	339 – 358	20	2 Potential
	Topological domain	359 – 399	41	Cytoplasmic Potential
	Region	331 – 338	8	Pore-forming motif Potential
	Compositional bias	351 – 354	4	Poly-Leu
Amino acid modifications
	Glycosylation	153	1	N-linked (GlcNAc...) Potential
	Glycosylation	184	1	N-linked (GlcNAc...) Potential
	Glycosylation	242	1	N-linked (GlcNAc...) Potential
	Glycosylation	300	1	N-linked (GlcNAc...) Potential
	Disulfide bond	117 ↔ 165		Ref.6
	Disulfide bond	126 ↔ 149		Ref.6
	Disulfide bond	132 ↔ 159		Ref.6
	Disulfide bond	217 ↔ 227		Ref.6
	Disulfide bond	261 ↔ 270		Ref.6
Natural variations
	Natural variant	351	1	Missing in bleeding disorder.		VAR_025382
	Natural variant	396	1	M → V: dbSNP rs34617528.		VAR_053552

Sequences

	Sequence		Length	Mass (Da)
	P51575-1 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 8365466665522BF8	FASTA	399	44,980
	10 20 30 40 50 60 MARRFQEELA AFLFEYDTPR MVLVRNKKVG VIFRLIQLVV LVYVIGWVFL YEKGYQTSSG 70 80 90 100 110 120 LISSVSVKLK GLAVTQLPGL GPQVWDVADY VFPAQGDNSF VVMTNFIVTP KQTQGYCAEH 130 140 150 160 170 180 PEGGICKEDS GCTPGKAKRK AQGIRTGKCV AFNDTVKTCE IFGWCPVEVD DDIPRPALLR 190 200 210 220 230 240 EAENFTLFIK NSISFPRFKV NRRNLVEEVN AAHMKTCLFH KTLHPLCPVF QLGYVVQESG 250 260 270 280 290 300 QNFSTLAEKG GVVGITIDWH CDLDWHVRHC RPIYEFHGLY EEKNLSPGFN FRFARHFVEN 310 320 330 340 350 360 GTNYRHLFKV FGIRFDILVD GKAGKFDIIP TMTTIGSGIG IFGVATVLCD LLLLHILPKR 370 380 390 HYYKQKKFKY AEDMGPGAAE RDLAATSSTL GLQENMRTS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 8834001] [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: 8809107] [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: 9565569] [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: 15489334] [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: 11809854] [Abstract] Cited for: DISULFIDE BONDS.
[7]	"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: 10816552] [Abstract] Cited for: VARIANT BLEEDING DISORDER LEU-351 DEL.
+	Additional computationally mapped references.

Web resources

Wikipedia

P2X receptor entry

Wikipedia

P2RX1 entry

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00019391.
PIR	S71927.
RefSeq	NP_002549.1.
UniGene	Hs.41735
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	P51575.
PTM databases
PhosphoSite	P51575.
Proteomic databases
PRIDE	P51575.
Genome annotation databases
Ensembl	ENST00000225538; ENSP00000225538; ENSG00000108405; Homo sapiens. [Genome view]
GeneID	5023.
KEGG	hsa:5023.
UCSC	uc002fww.1. human.
Organism-specific databases
CTD	5023.
GeneCards	GC17M003746.
H-InvDB	HIX0027117.
HGNC	HGNC:8533. P2RX1.
HPA	CAB006813.
MIM	600845. gene+phenotype.
PharmGKB	PA32861.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P51575.
HOVERGEN	P51575.
OMA	EYDTPRM
OrthoDB	EOG9RNDTR
Enzyme and pathway databases
Reactome	REACT_604. Hemostasis.
Gene expression databases
ArrayExpress	P51575.
Bgee	P51575.
CleanEx	HS_P2RX1.
Genevestigator	P51575.
GermOnline	ENSG00000108405. Homo sapiens.
Family and domain databases
InterPro	IPR003044. P2X1_purnocptor. IPR001429. P2X_purnocptor. [Graphical view]
PANTHER	PTHR10125. ATP_P2X_rcpt. 1 hit.
Pfam	PF00864. P2X_receptor. 1 hit. [Graphical view]
PRINTS	PR01308. P2X1RECEPTOR. PR01307. P2XRECEPTOR.
TIGRFAMs	TIGR00863. P2X. 1 hit.
PROSITE	PS01212. P2X_RECEPTOR. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	19336.
SOURCE	Search...

Entry information

Entry name

P2RX1_HUMAN

Accession

Primary (citable) accession number: P51575
Secondary accession number(s): Q9UK84

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	November 24, 2009
This is version 81 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.