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

Gene ID: 375033, updated on 23-Nov-2023

Summary

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; AllianceGenome:HGNC:33631
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]
Expression
Broad expression in fat (RPKM 9.8), placenta (RPKM 6.3) and 24 other tissues See more
Orthologs
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Genomic context

See PEAR1 in Genome Data Viewer
Location:
1q23.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156893718..156916429)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (156030548..156053275)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156863510..156886221)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156778787-156779288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156783176-156783722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1438 Neighboring gene SH2 domain containing 2A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1884 Neighboring gene neurotrophic receptor tyrosine kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156808560-156809060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156811133-156811814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156811815-156812494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156814249-156814884 Neighboring gene Sharpr-MPRA regulatory region 5756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156830955-156831498 Neighboring gene insulin receptor related receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156836581-156837238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156844837-156845734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156862813-156863317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:156865761-156866960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1441 Neighboring gene leucine rich repeat containing 71 Neighboring gene Rho guanine nucleotide exchange factor 11 Neighboring gene microRNA 765 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1442 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:156951350-156951542 Neighboring gene RNA, 7SL, cytoplasmic 612, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ00193

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in platelet aggregation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of platelet activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in recognition of apoptotic cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in phagocytic cup IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001080471.3NP_001073940.1  platelet endothelial aggregation receptor 1 isoform 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, Q8TEK2
    Related
    ENSP00000292357.7, ENST00000292357.8
    Conserved Domains (1) summary
    pfam07546
    Location:2795
    EMI; EMI domain
  2. NM_001353682.2NP_001340611.1  platelet endothelial aggregation receptor 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL158169, AL356104
    Conserved Domains (1) summary
    pfam07546
    Location:631
    EMI; EMI domain
  3. NM_001353683.2NP_001340612.1  platelet endothelial aggregation receptor 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL158169, AL356104
    Conserved Domains (1) summary
    pfam07546
    Location:631
    EMI; EMI domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    156893718..156916429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419737.1XP_047275693.1  platelet endothelial aggregation receptor 1 isoform X5

  2. XM_005245141.4XP_005245198.1  platelet endothelial aggregation receptor 1 isoform X3

    See identical proteins and their annotated locations for XP_005245198.1

    UniProtKB/Swiss-Prot
    Q5VY43, Q8TEK2
    Conserved Domains (1) summary
    pfam07546
    Location:2795
    EMI; EMI domain
  3. XM_011509511.3XP_011507813.1  platelet endothelial aggregation receptor 1 isoform X4

    Conserved Domains (1) summary
    pfam07546
    Location:3460
    EMI; EMI domain
  4. XM_047419722.1XP_047275678.1  platelet endothelial aggregation receptor 1 isoform X3

    UniProtKB/Swiss-Prot
    Q5VY43, Q8TEK2
  5. XM_011509510.3XP_011507812.1  platelet endothelial aggregation receptor 1 isoform X3

    See identical proteins and their annotated locations for XP_011507812.1

    UniProtKB/Swiss-Prot
    Q5VY43, Q8TEK2
    Related
    ENSP00000344465.3, ENST00000338302.7
    Conserved Domains (1) summary
    pfam07546
    Location:2795
    EMI; EMI domain
  6. XM_017001236.2XP_016856725.1  platelet endothelial aggregation receptor 1 isoform X3

    UniProtKB/Swiss-Prot
    Q5VY43, Q8TEK2
    Conserved Domains (1) summary
    pfam07546
    Location:2795
    EMI; EMI domain
  7. XM_017001239.2XP_016856728.1  platelet endothelial aggregation receptor 1 isoform X5

    Conserved Domains (1) summary
    pfam07546
    Location:631
    EMI; EMI domain
  8. XM_017001242.2XP_016856731.1  platelet endothelial aggregation receptor 1 isoform X6

  9. XM_017001235.3XP_016856724.1  platelet endothelial aggregation receptor 1 isoform X2

  10. XM_017001234.3XP_016856723.1  platelet endothelial aggregation receptor 1 isoform X1

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

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

    Related
    ENST00000469390.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    156030548..156053275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336448.1XP_054192423.1  platelet endothelial aggregation receptor 1 isoform X3

  2. XM_054336453.1XP_054192428.1  platelet endothelial aggregation receptor 1 isoform X7

  3. XM_054336452.1XP_054192427.1  platelet endothelial aggregation receptor 1 isoform X4

  4. XM_054336450.1XP_054192425.1  platelet endothelial aggregation receptor 1 isoform X3

  5. XM_054336449.1XP_054192424.1  platelet endothelial aggregation receptor 1 isoform X3

  6. XM_054336451.1XP_054192426.1  platelet endothelial aggregation receptor 1 isoform X3

  7. XM_054336456.1XP_054192431.1  platelet endothelial aggregation receptor 1 isoform X6

  8. XM_054336455.1XP_054192430.1  platelet endothelial aggregation receptor 1 isoform X6

  9. XM_054336454.1XP_054192429.1  platelet endothelial aggregation receptor 1 isoform X6

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.