Human Gene PEAR1 (ENST00000338302.7) from GENCODE V44
  Description: Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), transcript variant 3, mRNA. (from RefSeq NM_001353683)
RefSeq Summary (NM_001353683): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000338302.7
Gencode Gene: ENSG00000187800.14
Transcript (Including UTRs)
   Position: hg38 chr1:156,893,720-156,916,429 Size: 22,710 Total Exon Count: 24 Strand: +
Coding Region
   Position: hg38 chr1:156,903,927-156,914,798 Size: 10,872 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:156,893,720-156,916,429)mRNA (may differ from genome)Protein (1037 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PEAR1_HUMAN
DESCRIPTION: RecName: Full=Platelet endothelial aggregation receptor 1; Short=hPEAR1; AltName: Full=Multiple epidermal growth factor-like domains protein 12; Short=Multiple EGF-like domains protein 12; Flags: Precursor;
FUNCTION: When overexpressed, reduces the number of both early and late non-adherent myeloid progenitor cells (By similarity).
SUBUNIT: Interacts with SHC2 upon its aggregation-induced tyrosine phosphorylation.
SUBCELLULAR LOCATION: Cell membrane; Single-pass membrane protein (Potential). Note=Detected on the cell surface in resting platelets.
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.
PTM: 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.
SIMILARITY: Belongs to the MEGF family.
SIMILARITY: Contains 9 EGF-like domains.
SIMILARITY: Contains 1 EMI domain.
SEQUENCE CAUTION: Sequence=BAB84947.1; Type=Frameshift; Positions=557;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PEAR1
Diseases sorted by gene-association score: sticky platelet syndrome (10)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.98 RPKM in Nerve - Tibial
Total median expression: 411.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -102.50225-0.456 Picture PostScript Text
3' UTR -563.901631-0.346 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000742 - EG-like_dom
IPR013032 - EGF-like_CS
IPR002049 - EGF_laminin
IPR011489 - EMI_domain

Pfam Domains:
PF12661 - Human growth factor-like EGF
PF00053 - Laminin EGF domain

ModBase Predicted Comparative 3D Structure on Q5VY43
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0043654 recognition of apoptotic cell
GO:0045746 negative regulation of Notch signaling pathway

Cellular Component:
GO:0001891 phagocytic cup
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LP895726 - Sequence 590 from Patent EP3253886.
BC172296 - Synthetic construct Homo sapiens clone IMAGE:100068990, MGC:199001 platelet endothelial aggregation receptor 1 (PEAR1) mRNA, encodes complete protein.
AK098809 - Homo sapiens cDNA FLJ25943 fis, clone JTH10559.
AK074121 - Homo sapiens mRNA for FLJ00193 protein.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000338302.1, ENST00000338302.2, ENST00000338302.3, ENST00000338302.4, ENST00000338302.5, ENST00000338302.6, MEGF12, NM_001353683, PEAR1_HUMAN, Q5VY43, Q8TEK2, uc057mdp.1
UCSC ID: ENST00000338302.7
RefSeq Accession: NM_001353683
Protein: Q5VY43 (aka PEAR1_HUMAN)
CCDS: CCDS30892.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.