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FLASH GENE

Symbol

PEAR1

contributors: mct/pgu - updated : 05-09-2016

HGNC name	platelet endothelial aggregation receptor 1
HGNC id	33631

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1q23.1      Physical location : 156.863.522 - 156.886.226
Genatlas name	platelet endothelial aggregation receptor 1
Synonym name	multiple EGF-like-domains 12
Synonym symbol(s)	FLJ00193, JEDI, MEGF12

DNA

TYPE	functioning gene
STRUCTURE	22.70 kb     23 Exon(s)

regulatory sequence	cytosine-phosphate-guanine/HTF
text structure	PEAR1 expression during megakaryocyte differentiation is controlled by DNA methylation at its first CpG island

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001080471 23 - 4866 NP_001073940 - 1037 - 2005 15851471

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas         Nervous nerve cranial nerve       Reproductive female system placenta         male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic megakaryocyte Homo sapiens Cardiovascular endothelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	multiple EGF-like repeats
	three fibronectin type-III domains
	two Ig-like C2-type (immunoglobulin-like) domains
	a protein kinase domain

HOMOLOGY

intraspecies

homolog to MEGF10 and MEGF11 (PMID: 17226770)

Homologene

FAMILY

TYR protein kinase family, TIE subfamily

CATEGORY

structural protein , receptor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	epidermal growth factor repeat-containing transmembrane receptor, participating in platelet contact-induced activation
	involved in the fine regulation of the early stages of hematopoietic differentiation, presumably through the Notch signaling pathway
	platelet transmembrane protein that becomes activated by platelet contact
	play an important role in agonist-induced platelet aggregation and in the response to aspirin
	platelet receptor that signals secondary to alpha(IIb)beta(3)-mediated platelet-platelet contacts
	platelet transmembrane protein that becomes activated by platelet contact
	appears to play an important role in agonist-induced platelet aggregation and in the response to aspirine
	PEAR1 an engulfment receptor, and MEGF10, a purported engulfment receptor are expressed in fibroblasts, and facilitated binding to dead neurons
	PEAR1-induced phagocytosis requires GULP1 binding to clathrin heavy chain (CHC)
	PEAR1 cell-type specific methylation changes may control long distance interactions with other genes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	associates with GULP1, the mammalian homologue of Ced-6, an adaptor protein required for phagocytosis mediated by the nematode engulfment receptor Ced-1
	PEAR1 signals through recruitment of GULP1, which promotes phagocytosis through a noncanonical phosphoclathrin-dependent mechanism
	PEAR1 cell-specific methylation sensitive region in endothelial cells and megakaryocytes that showed strong chromosomal interactions with RRNAD1, MRLP24, HDGF and PRCC

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to variation of platelet aggregability

Variant & Polymorphism other	variant (rs12041331) in intron 1, associated with altered platelet function

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS