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Aliases for PEAR1 Gene

Aliases for PEAR1 Gene

  • Platelet Endothelial Aggregation Receptor 1 2 3 5
  • Multiple Epidermal Growth Factor-Like Domains Protein 12 3 4
  • Multiple EGF-Like Domains Protein 12 3 4
  • Multiple EGF-Like-Domains 12 2 3
  • MEGF12 3 4
  • HPEAR1 4
  • JEDI 3

External Ids for PEAR1 Gene

Previous HGNC Symbols for PEAR1 Gene

  • MEGF12

Previous GeneCards Identifiers for PEAR1 Gene

  • GC01P153666
  • GC01P155130
  • GC01P128221

Summaries for PEAR1 Gene

Entrez Gene Summary for PEAR1 Gene

  • 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]

GeneCards Summary for PEAR1 Gene

PEAR1 (Platelet Endothelial Aggregation Receptor 1) is a Protein Coding gene. Diseases associated with PEAR1 include dysentery. Among its related pathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. An important paralog of this gene is MEGF11.

UniProtKB/Swiss-Prot for PEAR1 Gene

  • When overexpressed, reduces the number of both early and late non-adherent myeloid progenitor cells.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEAR1 Gene

Genomics for PEAR1 Gene

Regulatory Elements for PEAR1 Gene

Promoters for PEAR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PEAR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PEAR1 Gene

Chromosome:
1
Start:
156,893,692 bp from pter
End:
156,916,434 bp from pter
Size:
22,743 bases
Orientation:
Plus strand

Genomic View for PEAR1 Gene

Genes around PEAR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEAR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEAR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEAR1 Gene

Proteins for PEAR1 Gene

  • Protein details for PEAR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VY43-PEAR1_HUMAN
    Recommended name:
    Platelet endothelial aggregation receptor 1
    Protein Accession:
    Q5VY43
    Secondary Accessions:
    • Q8TEK2

    Protein attributes for PEAR1 Gene

    Size:
    1037 amino acids
    Molecular mass:
    110666 Da
    Quaternary structure:
    • Interacts with SHC2 upon its aggregation-induced tyrosine phosphorylation.
    SequenceCaution:
    • Sequence=BAB84947.1; Type=Frameshift; Positions=557; Evidence={ECO:0000305};

neXtProt entry for PEAR1 Gene

Proteomics data for PEAR1 Gene at MOPED

Post-translational modifications for PEAR1 Gene

  • Phosphorylated in the intracellular domain on tyrosine residues (By similarity). Phosphorylated on tyrosine residues by SRC. Tyrosine phosphorylation is detected upon platelet aggregation stimulated by collagen, TRAP and thrombin and platelet-platelet contacts but not after platelet activation. Tyrosine phosphorylation enhanced its association with SHC1 and SHC2.
  • Glycosylation at Asn 152, Asn 271, Asn 476, Asn 575, and Asn 634
  • Modification sites at PhosphoSitePlus

Other Protein References for PEAR1 Gene

No data available for DME Specific Peptides for PEAR1 Gene

Domains & Families for PEAR1 Gene

Protein Domains for PEAR1 Gene

Suggested Antigen Peptide Sequences for PEAR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q5VY43

UniProtKB/Swiss-Prot:

PEAR1_HUMAN :
  • Contains 9 EGF-like domains.
  • Belongs to the MEGF family.
Domain:
  • Contains 9 EGF-like domains.
  • Contains 1 EMI domain.
Family:
  • Belongs to the MEGF family.
genes like me logo Genes that share domains with PEAR1: view

No data available for Gene Families for PEAR1 Gene

Function for PEAR1 Gene

Molecular function for PEAR1 Gene

UniProtKB/Swiss-Prot Function:
When overexpressed, reduces the number of both early and late non-adherent myeloid progenitor cells.

Phenotypes for PEAR1 Gene

genes like me logo Genes that share phenotypes with PEAR1: view

Animal Models for PEAR1 Gene

MGI Knock Outs for PEAR1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PEAR1 Gene

Localization for PEAR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEAR1 Gene

Cell membrane; Single-pass membrane protein. Note=Detected on the cell surface in resting platelets. {ECO:0000269 PubMed:15851471}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEAR1 Gene COMPARTMENTS Subcellular localization image for PEAR1 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 2
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for PEAR1 Gene

Pathways & Interactions for PEAR1 Gene

genes like me logo Genes that share pathways with PEAR1: view

Pathways by source for PEAR1 Gene

Interacting Proteins for PEAR1 Gene

Gene Ontology (GO) - Biological Process for PEAR1 Gene

None

No data available for SIGNOR curated interactions for PEAR1 Gene

Drugs & Compounds for PEAR1 Gene

(3) Drugs for PEAR1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved Pharma Channel blocker 1029
Prasugrel Approved Pharma ADP receptor inhibitor 0
Clopidogrel Approved Nutra P2Y12 receptor antagonist 717
genes like me logo Genes that share compounds with PEAR1: view

Transcripts for PEAR1 Gene

Unigene Clusters for PEAR1 Gene

Platelet endothelial aggregation receptor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PEAR1 Gene

No ASD Table

Relevant External Links for PEAR1 Gene

GeneLoc Exon Structure for
PEAR1
ECgene alternative splicing isoforms for
PEAR1

Expression for PEAR1 Gene

mRNA expression in normal human tissues for PEAR1 Gene

Protein differential expression in normal tissues from HIPED for PEAR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.8), Serum (23.5), and Platelet (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PEAR1 Gene



SOURCE GeneReport for Unigene cluster for PEAR1 Gene Hs.142003

mRNA Expression by UniProt/SwissProt for PEAR1 Gene

Q5VY43-PEAR1_HUMAN
Tissue specificity: Expressed in umbilical vein endothelial cells and platelets (at protein level). Expressed in heart, kidney, skeletal muscle, pancreas, ovary, breast, lung, brain cortex, hypothalamus, spinal cord, dorsal root ganglion, endothelial cells of umbilical cord artery and vein, megakaryocytes, osteoblasts, coronary muscle and erythroid cells. Weakly expressed in peripheral blood leukocytes and macrophages.
genes like me logo Genes that share expression patterns with PEAR1: view

Protein tissue co-expression partners for PEAR1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PEAR1 Gene

Orthologs for PEAR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PEAR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PEAR1 35
  • 87.98 (n)
  • 88.62 (a)
PEAR1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEAR1 35
  • 87.37 (n)
  • 88.29 (a)
PEAR1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pear1 35
  • 83.28 (n)
  • 83.65 (a)
Pear1 16
Pear1 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PEAR1 35
  • 98.56 (n)
  • 98.04 (a)
PEAR1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pear1 35
  • 82.76 (n)
  • 82.46 (a)
oppossum
(Monodelphis domestica)
Mammalia PEAR1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 35 (a)
ManyToMany
-- 36
  • 37 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PEAR1 35
  • 65.47 (n)
  • 58.62 (a)
PEAR1 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEAR1 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pear1 35
  • 60.26 (n)
  • 53.51 (a)
zebrafish
(Danio rerio)
Actinopterygii pear1 35
  • 57.06 (n)
  • 51.04 (a)
pear1 36
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta drpr 36
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ced-1 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for PEAR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PEAR1 Gene

ENSEMBL:
Gene Tree for PEAR1 (if available)
TreeFam:
Gene Tree for PEAR1 (if available)

Paralogs for PEAR1 Gene

Paralogs for PEAR1 Gene

(3) SIMAP similar genes for PEAR1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PEAR1: view

Variants for PEAR1 Gene

Sequence variations from dbSNP and Humsavar for PEAR1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1952294 - 156,907,665(+) CCCAT(C/T)CTTGC reference, missense
rs11264581 - 156,913,701(+) CAGCC(A/G)CCTGG reference, missense
rs12137505 - 156,913,754(+) TCTAC(A/G)ATAAA reference, missense
rs822442 - 156,913,423(+) CAGAA(A/C/T)CCTGA reference, missense
rs749256 -- 156,914,573(+) AGGAG(C/T)GCAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PEAR1 Gene

Variant ID Type Subtype PubMed ID
nsv831648 CNV Loss 17160897
nsv831659 CNV Loss 17160897

Variation tolerance for PEAR1 Gene

Residual Variation Intolerance Score: 75.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.69; 93.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEAR1 Gene

HapMap Linkage Disequilibrium report
PEAR1
Human Gene Mutation Database (HGMD)
PEAR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEAR1 Gene

Disorders for PEAR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PEAR1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dysentery
  • infectious diarrhea
- elite association - COSMIC cancer census association via MalaCards
Search PEAR1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PEAR1

Genetic Association Database (GAD)
PEAR1
Human Genome Epidemiology (HuGE) Navigator
PEAR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEAR1
genes like me logo Genes that share disorders with PEAR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PEAR1 Gene

Publications for PEAR1 Gene

  1. Platelet endothelial aggregation receptor 1 (PEAR1), a novel epidermal growth factor repeat-containing transmembrane receptor, participates in platelet contact-induced activation. (PMID: 15851471) Nanda N. … Hart M.J. (J. Biol. Chem. 2005) 2 3 4 23 67
  2. A novel variant in the platelet endothelial aggregation receptor-1 gene is associated with increased platelet aggregability. (PMID: 18511696) Herrera-Galeano J.E. … Becker L.C. (Arterioscler. Thromb. Vasc. Biol. 2008) 3 23
  3. PEAR1 is not a human hypertension-susceptibility gene. (PMID: 25541647) Olivi L. … Staessen J.A. (Blood Press. 2015) 3
  4. Genetic variation in PEAR1 is associated with platelet aggregation and cardiovascular outcomes. (PMID: 23392654) Lewis J.P. … Shuldiner A.R. (Circ Cardiovasc Genet 2013) 3
  5. PEAR1 attenuates megakaryopoiesis via control of the PI3K/PTEN pathway. (PMID: 23667054) Kauskot A. … Hoylaerts M.F. (Blood 2013) 3

Products for PEAR1 Gene

Sources for PEAR1 Gene

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