UniProtKB - Q99571 (P2RX4_HUMAN)
Protein
P2X purinoceptor 4
Gene
P2RX4
Organism
Homo sapiens (Human)
Status
Functioni
Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the antagonists PPADS and suramin.3 Publications
GO - Molecular functioni
- ATP binding Source: BHF-UCL
- cadherin binding Source: BHF-UCL
- copper ion binding Source: BHF-UCL
- extracellularly ATP-gated cation channel activity Source: UniProtKB
- identical protein binding Source: BHF-UCL
- ligand-gated calcium channel activity Source: BHF-UCL
- purinergic nucleotide receptor activity Source: BHF-UCL
- signaling receptor binding Source: BHF-UCL
- zinc ion binding Source: BHF-UCL
GO - Biological processi
- apoptotic signaling pathway Source: BHF-UCL
- behavioral response to pain Source: ARUK-UCL
- blood coagulation Source: Reactome
- calcium ion transmembrane transport Source: BHF-UCL
- calcium-mediated signaling Source: ARUK-UCL
- cellular response to ATP Source: UniProtKB
- cellular response to zinc ion Source: UniProtKB
- endothelial cell activation Source: BHF-UCL
- ion transmembrane transport Source: UniProtKB
- membrane depolarization Source: BHF-UCL
- microglial cell migration Source: ARUK-UCL
- negative regulation of cardiac muscle hypertrophy Source: BHF-UCL
- neuronal action potential Source: Ensembl
- positive regulation of blood vessel endothelial cell migration Source: CAFA
- positive regulation of calcium ion transport Source: BHF-UCL
- positive regulation of calcium ion transport into cytosol Source: BHF-UCL
- positive regulation of calcium-mediated signaling Source: BHF-UCL
- positive regulation of endothelial cell chemotaxis Source: CAFA
- positive regulation of microglial cell migration Source: ARUK-UCL
- positive regulation of nitric oxide biosynthetic process Source: BHF-UCL
- positive regulation of prostaglandin secretion Source: BHF-UCL
- positive regulation of protein kinase B signaling Source: ARUK-UCL
- purinergic nucleotide receptor signaling pathway Source: BHF-UCL
- regulation of blood pressure Source: BHF-UCL
- regulation of cardiac muscle contraction Source: BHF-UCL
- regulation of chemotaxis Source: ARUK-UCL
- regulation of sodium ion transport Source: BHF-UCL
- relaxation of cardiac muscle Source: BHF-UCL
- response to ATP Source: BHF-UCL
- response to axon injury Source: ARUK-UCL
- response to fluid shear stress Source: BHF-UCL
- response to ischemia Source: ARUK-UCL
- sensory perception of pain Source: ARUK-UCL
- sensory perception of touch Source: ARUK-UCL
- signal transduction Source: BHF-UCL
- tissue homeostasis Source: BHF-UCL
Keywordsi
Molecular function | Ion channel, Ligand-gated ion channel, Receptor |
Biological process | Ion transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q99571 |
Reactomei | R-HSA-139853, Elevation of cytosolic Ca2+ levels R-HSA-418346, Platelet homeostasis R-HSA-9660826, Purinergic signaling in leishmaniasis infection |
Protein family/group databases
TCDBi | 1.A.7.1.5, the atp-gated p2x receptor cation channel (p2x receptor) family |
Names & Taxonomyi
Protein namesi | Recommended name: P2X purinoceptor 4Short name: P2X4 Alternative name(s): ATP receptor Purinergic receptor |
Gene namesi | Name:P2RX4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8535, P2RX4 |
MIMi | 600846, gene |
neXtProti | NX_Q99571 |
VEuPathDBi | HostDB:ENSG00000135124.14 |
Subcellular locationi
Other locations
- Membrane 3 Publications; Multi-pass membrane protein Sequence analysis
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Lysosome
- lysosomal membrane Source: UniProtKB
Nucleus
- integral component of nuclear inner membrane Source: GO_Central
Plasma Membrane
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: UniProtKB
Other locations
- cell body Source: ARUK-UCL
- cell junction Source: BHF-UCL
- dendritic spine Source: Ensembl
- membrane Source: BHF-UCL
- neuronal cell body Source: Ensembl
- perinuclear region of cytoplasm Source: BHF-UCL
- postsynaptic density Source: Ensembl
- terminal bouton Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 33 | CytoplasmicSequence analysisAdd BLAST | 33 | |
Transmembranei | 34 – 54 | Helical; Name=1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 55 – 338 | ExtracellularSequence analysisAdd BLAST | 284 | |
Transmembranei | 339 – 359 | Helical; Name=2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 360 – 388 | CytoplasmicSequence analysisAdd BLAST | 29 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 119 | I → V: Does not change ATP-induced inward current. Does not change affinity for ATP. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 5025 |
OpenTargetsi | ENSG00000135124 |
PharmGKBi | PA32864 |
Miscellaneous databases
Pharosi | Q99571, Tchem |
Chemistry databases
ChEMBLi | CHEMBL2104 |
DrugBanki | DB14575, Eslicarbazepine DB09119, Eslicarbazepine acetate DB01069, Promethazine |
DrugCentrali | Q99571 |
GuidetoPHARMACOLOGYi | 481 |
Genetic variation databases
BioMutai | P2RX4 |
DMDMi | 116242696 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000161553 | 1 – 388 | P2X purinoceptor 4Add BLAST | 388 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 75 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 110 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 116 ↔ 165 | By similarity | ||
Disulfide bondi | 126 ↔ 149 | By similarity | ||
Disulfide bondi | 132 ↔ 159 | By similarity | ||
Glycosylationi | 153 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 184 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 199 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 208 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 217 ↔ 227 | By similarity | ||
Disulfide bondi | 261 ↔ 270 | By similarity |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q99571 |
jPOSTi | Q99571 |
MassIVEi | Q99571 |
MaxQBi | Q99571 |
PaxDbi | Q99571 |
PeptideAtlasi | Q99571 |
PRIDEi | Q99571 |
ProteomicsDBi | 17348 27898 78331 [Q99571-1] |
PTM databases
GlyConnecti | 1590, 12 N-Linked glycans (4 sites) |
GlyGeni | Q99571, 6 sites |
iPTMneti | Q99571 |
PhosphoSitePlusi | Q99571 |
Expressioni
Gene expression databases
Bgeei | ENSG00000135124, Expressed in colonic mucosa and 199 other tissues |
ExpressionAtlasi | Q99571, baseline and differential |
Genevisiblei | Q99571, HS |
Organism-specific databases
HPAi | ENSG00000135124, Low tissue specificity |
Interactioni
Subunit structurei
Functional P2XRs are organized as homomeric and heteromeric trimers.
By similarityBinary interactionsi
Hide detailsQ99571
GO - Molecular functioni
- cadherin binding Source: BHF-UCL
- identical protein binding Source: BHF-UCL
- signaling receptor binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 111064, 37 interactors |
IntActi | Q99571, 26 interactors |
STRINGi | 9606.ENSP00000353032 |
Chemistry databases
BindingDBi | Q99571 |
Miscellaneous databases
RNActi | Q99571, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the P2X receptor family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QSUI, Eukaryota |
GeneTreei | ENSGT01020000230351 |
InParanoidi | Q99571 |
OMAi | RAASHCV |
OrthoDBi | 1128763at2759 |
PhylomeDBi | Q99571 |
TreeFami | TF328633 |
Family and domain databases
Gene3Di | 2.60.490.10, 1 hit |
InterProi | View protein in InterPro IPR003047, P2X4_purnocptor IPR027309, P2X_extracellular_dom_sf IPR001429, P2X_purnocptor |
PIRSFi | PIRSF005713, P2X_purinoceptor, 1 hit |
PRINTSi | PR01311, P2X4RECEPTOR PR01307, P2XRECEPTOR |
TIGRFAMsi | TIGR00863, P2X, 1 hit |
PROSITEi | View protein in PROSITE PS01212, P2X_RECEPTOR, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q99571-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAGCCAALAA FLFEYDTPRI VLIRSRKVGL MNRAVQLLIL AYVIGWVFVW
60 70 80 90 100
EKGYQETDSV VSSVTTKVKG VAVTNTSKLG FRIWDVADYV IPAQEENSLF
110 120 130 140 150
VMTNVILTMN QTQGLCPEIP DATTVCKSDA SCTAGSAGTH SNGVSTGRCV
160 170 180 190 200
AFNGSVKTCE VAAWCPVEDD THVPQPAFLK AAENFTLLVK NNIWYPKFNF
210 220 230 240 250
SKRNILPNIT TTYLKSCIYD AKTDPFCPIF RLGKIVENAG HSFQDMAVEG
260 270 280 290 300
GIMGIQVNWD CNLDRAASLC LPRYSFRRLD TRDVEHNVSP GYNFRFAKYY
310 320 330 340 350
RDLAGNEQRT LIKAYGIRFD IIVFGKAGKF DIIPTMINIG SGLALLGMAT
360 370 380
VLCDIIVLYC MKKRLYYREK KYKYVEDYEQ GLASELDQ
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF6SFZ6 | F6SFZ6_HUMAN | ATP receptor | P2RX4 | 341 | Annotation score: | ||
F5GZQ9 | F5GZQ9_HUMAN | P2X purinoceptor 4 | P2RX4 | 148 | Annotation score: | ||
F5H1M6 | F5H1M6_HUMAN | P2X purinoceptor 4 | P2RX4 | 145 | Annotation score: | ||
H0YF70 | H0YF70_HUMAN | P2X purinoceptor 4 | P2RX4 | 123 | Annotation score: | ||
F5H2S3 | F5H2S3_HUMAN | P2X purinoceptor 4 | P2RX4 | 52 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 121 | D → S in AAB66834 (Ref. 8) Curated | 1 | |
Sequence conflicti | 148 | R → W in AAB66834 (Ref. 8) Curated | 1 | |
Sequence conflicti | 179 | L → F in AAB66834 (Ref. 8) Curated | 1 | |
Sequence conflicti | 238 | N → I in AAB66834 (Ref. 8) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079856 | 3 | G → C1 PublicationCorresponds to variant dbSNP:rs200492184EnsemblClinVar. | 1 | |
Natural variantiVAR_028307 | 6 | A → S Does not change ATP-induced inward current; does not change affinity for ATP. 4 PublicationsCorresponds to variant dbSNP:rs1044249Ensembl. | 1 | |
Natural variantiVAR_079857 | 135 | G → S Does not change protein expression; does not affect membrane subcellular location; increases ATP-induced inward current. 1 PublicationCorresponds to variant dbSNP:rs765866317Ensembl. | 1 | |
Natural variantiVAR_014942 | 242 | S → G Does not change ATP-induced inward current; does not change affinity for ATP. 3 PublicationsCorresponds to variant dbSNP:rs25644Ensembl. | 1 | |
Natural variantiVAR_079858 | 315 | Y → C May influence susceptibility to multiple sclerosis in the presence of variants M-205 and S-361 in P2RX7; does not affect membrane subcellular location; reduces ATP-induced inward current; decreases affinity for ATP. 4 PublicationsCorresponds to variant dbSNP:rs28360472Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_053812 | 45 | G → GCYHPHLAEVEMESPRR in isoform 2. Curated | 1 | |
Alternative sequenceiVSP_053813 | 149 – 175 | Missing in isoform 3. 1 PublicationAdd BLAST | 27 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y07684 mRNA Translation: CAA68948.1 U87270 , 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 |
CCDSi | CCDS58282.1 [Q99571-2] CCDS9214.1 [Q99571-1] |
RefSeqi | NP_001243725.1, NM_001256796.1 [Q99571-2] NP_001248326.1, NM_001261397.1 [Q99571-3] NP_002551.2, NM_002560.2 [Q99571-1] |
Genome annotation databases
Ensembli | ENST00000337233; ENSP00000336607; ENSG00000135124 [Q99571-1] ENST00000359949; ENSP00000353032; ENSG00000135124 [Q99571-2] ENST00000542067; ENSP00000438329; ENSG00000135124 [Q99571-3] |
GeneIDi | 5025 |
KEGGi | hsa:5025 |
UCSCi | uc001tzr.4, human [Q99571-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Wikipedia P2X receptor entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y07684 mRNA Translation: CAA68948.1 U87270 , 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 |
CCDSi | CCDS58282.1 [Q99571-2] CCDS9214.1 [Q99571-1] |
RefSeqi | NP_001243725.1, NM_001256796.1 [Q99571-2] NP_001248326.1, NM_001261397.1 [Q99571-3] NP_002551.2, NM_002560.2 [Q99571-1] |
3D structure databases
SMRi | Q99571 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111064, 37 interactors |
IntActi | Q99571, 26 interactors |
STRINGi | 9606.ENSP00000353032 |
Chemistry databases
BindingDBi | Q99571 |
ChEMBLi | CHEMBL2104 |
DrugBanki | DB14575, Eslicarbazepine DB09119, Eslicarbazepine acetate DB01069, Promethazine |
DrugCentrali | Q99571 |
GuidetoPHARMACOLOGYi | 481 |
Protein family/group databases
TCDBi | 1.A.7.1.5, the atp-gated p2x receptor cation channel (p2x receptor) family |
PTM databases
GlyConnecti | 1590, 12 N-Linked glycans (4 sites) |
GlyGeni | Q99571, 6 sites |
iPTMneti | Q99571 |
PhosphoSitePlusi | Q99571 |
Genetic variation databases
BioMutai | P2RX4 |
DMDMi | 116242696 |
Proteomic databases
EPDi | Q99571 |
jPOSTi | Q99571 |
MassIVEi | Q99571 |
MaxQBi | Q99571 |
PaxDbi | Q99571 |
PeptideAtlasi | Q99571 |
PRIDEi | Q99571 |
ProteomicsDBi | 17348 27898 78331 [Q99571-1] |
Protocols and materials databases
Antibodypediai | 31537, 265 antibodies |
DNASUi | 5025 |
Genome annotation databases
Ensembli | ENST00000337233; ENSP00000336607; ENSG00000135124 [Q99571-1] ENST00000359949; ENSP00000353032; ENSG00000135124 [Q99571-2] ENST00000542067; ENSP00000438329; ENSG00000135124 [Q99571-3] |
GeneIDi | 5025 |
KEGGi | hsa:5025 |
UCSCi | uc001tzr.4, human [Q99571-1] |
Organism-specific databases
CTDi | 5025 |
DisGeNETi | 5025 |
GeneCardsi | P2RX4 |
HGNCi | HGNC:8535, P2RX4 |
HPAi | ENSG00000135124, Low tissue specificity |
MIMi | 600846, gene |
neXtProti | NX_Q99571 |
OpenTargetsi | ENSG00000135124 |
PharmGKBi | PA32864 |
VEuPathDBi | HostDB:ENSG00000135124.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QSUI, Eukaryota |
GeneTreei | ENSGT01020000230351 |
InParanoidi | Q99571 |
OMAi | RAASHCV |
OrthoDBi | 1128763at2759 |
PhylomeDBi | Q99571 |
TreeFami | TF328633 |
Enzyme and pathway databases
PathwayCommonsi | Q99571 |
Reactomei | R-HSA-139853, Elevation of cytosolic Ca2+ levels R-HSA-418346, Platelet homeostasis R-HSA-9660826, Purinergic signaling in leishmaniasis infection |
Miscellaneous databases
BioGRID-ORCSi | 5025, 7 hits in 995 CRISPR screens |
ChiTaRSi | P2RX4, human |
GeneWikii | P2RX4 |
GenomeRNAii | 5025 |
Pharosi | Q99571, Tchem |
PROi | PR:Q99571 |
RNActi | Q99571, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000135124, Expressed in colonic mucosa and 199 other tissues |
ExpressionAtlasi | Q99571, baseline and differential |
Genevisiblei | Q99571, HS |
Family and domain databases
Gene3Di | 2.60.490.10, 1 hit |
InterProi | View protein in InterPro IPR003047, P2X4_purnocptor IPR027309, P2X_extracellular_dom_sf IPR001429, P2X_purnocptor |
PIRSFi | PIRSF005713, P2X_purinoceptor, 1 hit |
PRINTSi | PR01311, P2X4RECEPTOR PR01307, P2XRECEPTOR |
TIGRFAMsi | TIGR00863, P2X, 1 hit |
PROSITEi | View protein in PROSITE PS01212, P2X_RECEPTOR, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | P2RX4_HUMAN | |
Accessioni | Q99571Primary (citable) accession number: Q99571 Secondary accession number(s): E7EPF7 Q9UBG9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | October 17, 2006 | |
Last modified: | April 7, 2021 | |
This is version 191 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families