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    PEAR1 platelet endothelial aggregation receptor 1 [ Homo sapiens (human) ]

    Gene ID: 375033, updated on 6-Aug-2017
    Official Symbol
    PEAR1provided by HGNC
    Official Full Name
    platelet endothelial aggregation receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:33631
    See related
    Ensembl:ENSG00000187800 MIM:610278; Vega:OTTHUMG00000041293
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JEDI; MEGF12
    Summary
    PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]
    Orthologs
    Location:
    1q23.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (156893697..156916434)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156863496..156886226)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SH2 domain containing 2A Neighboring gene neurotrophic receptor tyrosine kinase 1 Neighboring gene insulin receptor related receptor Neighboring gene leucine rich repeat containing 71 Neighboring gene Rho guanine nucleotide exchange factor 11 Neighboring gene microRNA 765 Neighboring gene RNA, 7SL, cytoplasmic 612, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ00193

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    negative regulation of Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    recognition of apoptotic cell IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytic cup IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    platelet endothelial aggregation receptor 1
    Names
    multiple EGF-like domains protein 12
    multiple EGF-like-domains 12
    multiple epidermal growth factor-like domains protein 12

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001080471.1NP_001073940.1  platelet endothelial aggregation receptor 1 precursor

      See identical proteins and their annotated locations for NP_001073940.1

      Status: VALIDATED

      Source sequence(s)
      AL158169, AL356104
      Consensus CDS
      CCDS30892.1
      UniProtKB/Swiss-Prot
      Q5VY43
      Related
      ENSP00000292357.7, ENST00000292357.7
      Conserved Domains (1) summary
      pfam07546
      Location:2795
      EMI; EMI domain
    2. NM_001353682.1NP_001340611.1  platelet endothelial aggregation receptor 1

      Status: VALIDATED

      Source sequence(s)
      AL158169, AL356104
    3. NM_001353683.1NP_001340612.1  platelet endothelial aggregation receptor 1

      Status: VALIDATED

      Source sequence(s)
      AL158169, AL356104

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      156893697..156916434
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001237.1XP_016856726.1  platelet endothelial aggregation receptor 1 isoform X5

    2. XM_005245141.3XP_005245198.1  platelet endothelial aggregation receptor 1 isoform X3

      See identical proteins and their annotated locations for XP_005245198.1

      UniProtKB/Swiss-Prot
      Q5VY43
      Conserved Domains (1) summary
      pfam07546
      Location:2795
      EMI; EMI domain
    3. XM_011509511.2XP_011507813.1  platelet endothelial aggregation receptor 1 isoform X4

      Conserved Domains (1) summary
      pfam07546
      Location:3460
      EMI; EMI domain
    4. XM_017001238.1XP_016856727.1  platelet endothelial aggregation receptor 1 isoform X5

    5. XM_011509510.2XP_011507812.1  platelet endothelial aggregation receptor 1 isoform X3

      See identical proteins and their annotated locations for XP_011507812.1

      UniProtKB/Swiss-Prot
      Q5VY43
      Related
      ENSP00000344465.3, OTTHUMP00000038718, ENST00000338302.7, OTTHUMT00000098937
      Conserved Domains (1) summary
      pfam07546
      Location:2795
      EMI; EMI domain
    6. XM_017001236.1XP_016856725.1  platelet endothelial aggregation receptor 1 isoform X3

      UniProtKB/Swiss-Prot
      Q5VY43
      Conserved Domains (1) summary
      pfam07546
      Location:2795
      EMI; EMI domain
    7. XM_017001239.1XP_016856728.1  platelet endothelial aggregation receptor 1 isoform X5

    8. XM_011509512.2XP_011507814.1  platelet endothelial aggregation receptor 1 isoform X7

      Conserved Domains (1) summary
      cl21504
      Location:150196
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    9. XM_017001242.1XP_016856731.1  platelet endothelial aggregation receptor 1 isoform X6

    10. XM_017001235.1XP_016856724.1  platelet endothelial aggregation receptor 1 isoform X2

    11. XM_017001234.1XP_016856723.1  platelet endothelial aggregation receptor 1 isoform X1

    12. XM_017001241.1XP_016856730.1  platelet endothelial aggregation receptor 1 isoform X6

    13. XM_017001240.1XP_016856729.1  platelet endothelial aggregation receptor 1 isoform X6

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      158259706..158282665
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_207369.1: Suppressed sequence

      Description
      NM_207369.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Support Center