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P2rx1 Gene Detail
Summary
  • Symbol
    P2rx1
  • Name
    purinergic receptor P2X, ligand-gated ion channel, 1
  • Synonyms
    P2x, P2X1 receptor, Pdcd3, RP-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098235
    NCBI Gene: 18436
  • Gene Overview
    MyGene.info: P2RX1
Location & Maps
more
  • Sequence Map
    Chr11:72999103-73015200 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16098 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 45.09 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    P2RX1, purinergic receptor P2X 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    P2RX1, purinergic receptor P2X 1
    Orthology source: HomoloGene
  • Synonyms
    P2X1
  • Links
    NCBI Gene ID: 5023
    neXtProt AC: NX_P51575

  • Chr Location
    17p13.3; chr17:3896591-3916666 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human P2RX1 associations

Human Disease Mouse Models
       Bleeding Disorder, Platelet-Type, 8; BDPLT8   OMIM: 609821
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving P2rx1
  • Incidental Mutations
Homozygotes for a targeted null mutation exhibit low male fertility due to impaired vas deferens contraction and reduced numbers of ejaculated sperm. Mutants also show mild hypertension and reduced susceptibility to experimental thromboembolism.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006117 VEGA Gene Model | MGI Sequence Detail 16098 C57BL/6J ±  kb
transcript OTTMUST00000013829 VEGA | MGI Sequence Detail 2486 Not Applicable  
polypeptide OTTMUSP00000006411 VEGA | MGI Sequence Detail 399 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    132 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 22
    Genomic 1
    cDNA 19
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-32146, MGI:105106, MGI:2144121, MGI:2144602
References
more
  • Summaries
    All 55
    Developmental Gene Expression 7
    Gene Ontology 14
    Phenotypes 20
  • Earliest
    J:25745 Hacker G, et al., Expression of candidate cell death genes in cell lines during apoptosis. Biochem Cell Biol. 1994 Nov-Dec;72(11-12):451-4
  • Latest
    J:218708 Darbousset R, et al., P2X1 expressed on polymorphonuclear neutrophils and platelets is required for thrombosis in mice. Blood. 2014 Oct 16;124(16):2575-85

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory