O15547 (P2RX6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
P2X purinoceptor 6
Short name=P2X6

Alternative name(s):
ATP receptor
P2XM
Purinergic receptor
Purinergic receptor P2X-like 1

Gene names

Name:	P2RX6
Synonyms:	P2RXL1, P2X6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	441 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Receptor for ATP that acts as a ligand-gated ion channel By similarity.
Subunit structure	Unlike most P2XRs, P2RX6 does not seem to form homotrimers or heterotrimers. Ref.7
Subcellular location	Membrane; Multi-pass membrane protein.
Tissue specificity	Expressed predominantly in skeletal muscle.
Post-translational modification	N-glycosylated. Ref.7
Sequence similarities	Belongs to the P2X receptor family.
Caution	It is uncertain whether Met-1 or Met-11 is the initiator.
Sequence caution	The sequence AAF13303.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAF13303.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the N-terminal part. The sequence AAH33488.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAI09210.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAA22046.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAA22047.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Ion channel Ligand-gated ion channel Receptor
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	muscle contraction Traceable author statement Ref.1. Source: ProtInc protein heterooligomerization Inferred from electronic annotation. Source: Compara protein homooligomerization Inferred from physical interaction PubMed 15313628. Source: BHF-UCL
Cellular_component	cell junction Inferred from direct assay PubMed 12088286. Source: BHF-UCL cytoplasm Inferred from direct assay PubMed 12088286. Source: BHF-UCL integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc neuronal cell body Inferred from electronic annotation. Source: Compara postsynaptic density Inferred from electronic annotation. Source: Compara
Molecular_function	ATP binding Non-traceable author statement PubMed 12088286. Source: BHF-UCL extracellular ATP-gated cation channel activity Non-traceable author statement PubMed 12088286. Source: BHF-UCL purinergic nucleotide receptor activity Non-traceable author statement PubMed 12088286. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O15547-1)

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: O15547-2)

The sequence of this isoform differs from the canonical sequence as follows:
     30-55: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 441	441	P2X purinoceptor 6		PRO_0000161557
Regions
	Topological domain	11 – 39	29	Cytoplasmic Potential
	Transmembrane	40 – 60	21	Helical; Name=1; Potential
	Topological domain	61 – 333	273	Extracellular Potential
	Transmembrane	334 – 354	21	Helical; Name=2; Potential
	Topological domain	355 – 441	87	Cytoplasmic Potential
Amino acid modifications
	Modified residue	64	1	Phosphotyrosine Ref.6
	Glycosylation	165	1	N-linked (GlcNAc...) Potential
	Glycosylation	195	1	N-linked (GlcNAc...) Potential
	Glycosylation	210	1	N-linked (GlcNAc...) Potential
	Disulfide bond	127 ↔ 177		By similarity
	Disulfide bond	138 ↔ 161		By similarity
	Disulfide bond	144 ↔ 171		By similarity
	Disulfide bond	228 ↔ 238		By similarity
	Disulfide bond	272 ↔ 281		By similarity
Natural variations
	Alternative sequence	30 – 55	26	Missing in isoform 2.		VSP_044799
	Natural variant	38	1	V → G. Corresponds to variant rs2006846 [ dbSNP | Ensembl ].		VAR_057664
	Natural variant	242	1	R → H. Ref.4 Corresponds to variant rs2277838 [ dbSNP | Ensembl ].		VAR_020338
Experimental info
	Sequence conflict	393	1	L → F in AAF13303. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 2, 2010. Version 2. Checksum: EFD45BDC81234A64	FASTA	441	48,829
	10 20 30 40 50 60 MCPQLAGAGS MGSPGATTGW GLLDYKTEKY VMTRNWRVGA LQRLLQFGIV VYVVGWALLA 70 80 90 100 110 120 KKGYQERDLE PQFSIITKLK GVSVTQIKEL GNRLWDVADF VKPPQGENVF FLVTNFLVTP 130 140 150 160 170 180 AQVQGRCPEH PSVPLANCWV DEDCPEGEGG THSHGVKTGQ CVVFNGTHRT CEIWSWCPVE 190 200 210 220 230 240 SGVVPSRPLL AQAQNFTLFI KNTVTFSKFN FSKSNALETW DPTYFKHCRY EPQFSPYCPV 250 260 270 280 290 300 FRIGDLVAKA GGTFEDLALL GGSVGIRVHW DCDLDTGDSG CWPHYSFQLQ EKSYNFRTAT 310 320 330 340 350 360 HWWEQPGVEA RTLLKLYGIR FDILVTGQAG KFGLIPTAVT LGTGAAWLGV VTFFCDLLLL 370 380 390 400 410 420 YVDREAHFYW RTKYEEAKAP KATANSVWRE LALASQARLA ECLRRSSAPA PTATAAGSQT 430 440 QTPGWPCPSS DTHLPTHSGS L
	Isoform 2 [UniParc]. Checksum: 3E32A59741527671	FASTA	415	45,808
	10 20 30 40 50 60 MCPQLAGAGS MGSPGATTGW GLLDYKTEKW ALLAKKGYQE RDLEPQFSII TKLKGVSVTQ 70 80 90 100 110 120 IKELGNRLWD VADFVKPPQG ENVFFLVTNF LVTPAQVQGR CPEHPSVPLA NCWVDEDCPE 130 140 150 160 170 180 GEGGTHSHGV KTGQCVVFNG THRTCEIWSW CPVESGVVPS RPLLAQAQNF TLFIKNTVTF 190 200 210 220 230 240 SKFNFSKSNA LETWDPTYFK HCRYEPQFSP YCPVFRIGDL VAKAGGTFED LALLGGSVGI 250 260 270 280 290 300 RVHWDCDLDT GDSGCWPHYS FQLQEKSYNF RTATHWWEQP GVEARTLLKL YGIRFDILVT 310 320 330 340 350 360 GQAGKFGLIP TAVTLGTGAA WLGVVTFFCD LLLLYVDREA HFYWRTKYEE AKAPKATANS 370 380 390 400 410 VWRELALASQ ARLAECLRRS SAPAPTATAA GSQTQTPGWP CPSSDTHLPT HSGSL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of P2XM, a novel human P2X receptor gene regulated by p53." Urano T., Nishimori H., Han H., Furuhata T., Kimura Y., Nakamura Y., Tokino T. Cancer Res. 57:3281-3287(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
[2]	"A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 6-441 (ISOFORM 1), VARIANT HIS-242. Tissue: Brain.
[5]	"Cloning and tissue distribution of a human cDNA encoding P2X6 purinoceptor." Cheng X., Jin H., Huang C.-C. Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-441 (ISOFORM 1). Tissue: Skeletal muscle.
[6]	"Identification of the phosphotyrosine proteome from thrombin activated platelets." Maguire P.B., Wynne K.J., Harney D.F., O'Donoghue N.M., Stephens G., Fitzgerald D.J. Proteomics 2:642-648(2002) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION AT TYR-64.
[7]	"Atomic force microscopy imaging demonstrates that P2X2 receptors are trimers but that P2X6 receptor subunits do not oligomerize." Barrera N.P., Ormond S.J., Henderson R.M., Murrell-Lagnado R.D., Edwardson J.M. J. Biol. Chem. 280:10759-10765(2005) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, GLYCOSYLATION.
+	Additional computationally mapped references.

Web resources

Wikipedia

P2X receptor entry

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB002059 Genomic DNA. Translation: BAA22047.1. Different initiation. AB002058 mRNA. Translation: BAA22046.1. Different initiation. CR456535 mRNA. Translation: CAG30421.1. AC002472 Genomic DNA. No translation available. BC033488 mRNA. Translation: AAH33488.1. Different initiation. BC109209 mRNA. Translation: AAI09210.1. Different initiation. AF065385 mRNA. Translation: AAF13303.1. Sequence problems.
IPI	IPI00878641. IPI00936147.
RefSeq	NP_001153026.1. NM_001159554.1. NP_005437.2. NM_005446.3.
UniGene	Hs.113275.
3D structure databases
ProteinModelPortal	O15547.
SMR	O15547. Positions 41-356.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000416193.
PTM databases
PhosphoSite	O15547.
Proteomic databases
PaxDb	O15547.
PRIDE	O15547.
Protocols and materials databases
DNASU	9127.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000336296; ENSP00000338797; ENSG00000099957. ENST00000401443; ENSP00000385309; ENSG00000099957. ENST00000413302; ENSP00000416193; ENSG00000099957.
GeneID	9127.
KEGG	hsa:9127.
UCSC	uc010gsu.1. human.
Organism-specific databases
CTD	9127.
GeneCards	GC22P021440.
HGNC	HGNC:8538. P2RX6.
HPA	HPA028776. HPA028777.
MIM	608077. gene.
neXtProt	NX_O15547.
PharmGKB	PA162398523.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG47843.
HOGENOM	HOG000232042.
HOVERGEN	HBG053086.
InParanoid	O15547.
KO	K05221.
OMA	RCPEHPS.
OrthoDB	EOG42JNR9.
Gene expression databases
ArrayExpress	O15547.
Bgee	O15547.
CleanEx	HS_P2RX6.
Genevestigator	O15547.
GermOnline	ENSG00000099957. Homo sapiens.
Family and domain databases
Gene3D	2.60.490.10. 1 hit.
InterPro	IPR003049. P2X6_purnocptor. IPR027309. P2X_extracellular_dom. IPR001429. P2X_purnocptor. [Graphical view]
PANTHER	PTHR10125. PTHR10125. 1 hit. PTHR10125:SF10. PTHR10125:SF10. 1 hit.
Pfam	PF00864. P2X_receptor. 1 hit. [Graphical view]
PRINTS	PR01313. P2X6RECEPTOR. PR01307. P2XRECEPTOR.
TIGRFAMs	TIGR00863. P2X. 1 hit.
PROSITE	PS01212. P2X_RECEPTOR. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	O15547.
ChEMBL	CHEMBL2670.
GenomeRNAi	9127.
NextBio	34213.
SOURCE	Search...

Entry information

Entry name

P2RX6_HUMAN

Accession

Primary (citable) accession number: O15547
Secondary accession number(s): F6V3D7 , Q32MB6, Q58F04, Q6IC33, Q9UL50

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	November 2, 2010
Last modified:	May 1, 2013
This is version 118 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.