ENSG00000108405


Homo sapiens

Features
Gene ID: ENSG00000108405
  
Biological name :P2RX1
  
Synonyms : P2RX1 / P51575 / purinergic receptor P2X 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: p13.2
Gene start: 3896592
Gene end: 3916500
  
Corresponding Affymetrix probe sets: 210401_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000225538
Ensembl peptide - ENSP00000460449
NCBI entrez gene - 5023     See in Manteia.
OMIM - 600845
RefSeq - XM_011523899
RefSeq - NM_002558
RefSeq - XM_011523896
RefSeq - XM_011523897
RefSeq - XM_011523898
RefSeq - XM_006721529
RefSeq Peptide - NP_002549
swissprot - P51575
swissprot - I3L3H3
Ensembl - ENSG00000108405
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 p2rx1ENSDARG00000016695Danio rerio
 P2RX1ENSGALG00000001573Gallus gallus
 P2rx1ENSMUSG00000020787Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P2RX4 / Q99571 / purinergic receptor P2X 4ENSG0000013512449
P2RX3 / P56373 / purinergic receptor P2X 3ENSG0000010999142
P2RX7 / Q99572 / purinergic receptor P2X 7ENSG0000008904141
P2RX6 / O15547 / purinergic receptor P2X 6ENSG0000009995741
P2RX5 / Q93086 / purinergic receptor P2X 5ENSG0000008345440
P2RX5-TAX1BP3 / P2RX5-TAX1BP3 readthrough (NMD candidate)ENSG0000025795040
P2RX2 / Q9UBL9 / purinergic receptor P2X 2ENSG0000018784837


Protein motifs (from Interpro)
Interpro ID Name
 IPR001429  P2X purinoreceptor
 IPR003044  P2X1 purinoceptor
 IPR027309  P2X purinoreceptor extracellular domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002554 serotonin secretion by platelet IEA
 biological_processGO:0003056 regulation of vascular smooth muscle contraction IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
 biological_processGO:0006940 regulation of smooth muscle contraction IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007320 insemination IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0008217 regulation of blood pressure IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0019228 neuronal action potential IEA
 biological_processGO:0019229 regulation of vasoconstriction IEA
 biological_processGO:0030168 platelet activation IEA
 biological_processGO:0033198 response to ATP IEA
 biological_processGO:0035249 synaptic transmission, glutamatergic IEA
 biological_processGO:0035590 purinergic nucleotide receptor signaling pathway IEA
 biological_processGO:0042310 vasoconstriction IEA
 biological_processGO:0043270 positive regulation of ion transport IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0046513 ceramide biosynthetic process IEA
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0051291 protein heterooligomerization IEA
 biological_processGO:0051924 regulation of calcium ion transport IEA
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 biological_processGO:0098655 cation transmembrane transport IEA
 cellular_componentGO:0005639 integral component of nuclear inner membrane IBA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030667 secretory granule membrane TAS
 cellular_componentGO:0035579 specific granule membrane TAS
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:0098794 postsynapse IEA
 molecular_functionGO:0001614 purinergic nucleotide receptor activity IEA
 molecular_functionGO:0004931 extracellularly ATP-gated cation channel activity IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005261 cation channel activity IDA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008144 drug binding IEA
 molecular_functionGO:0008270 zinc ion binding IEA


Pathways (from Reactome)
Pathway description
Elevation of cytosolic Ca2+ levels
Platelet homeostasis
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000421 Epistaxis 
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 HP:0000978 Ecchymoses 
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 HP:0001934 Persistent bleeding after trauma 
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 HP:0004846 severe protracted bleeding after surgery 
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 HP:0004866 platelets show impaired aggregation in response to adp 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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