• Gene id: 375033

Gene Summary

• Gene Symbol: PEAR1   Gene   UCSC   Ensembl
• Aliases: JEDI, MEGF12
• Gene name: platelet endothelial aggregation receptor 1
• Alternate names: platelet endothelial aggregation receptor 1, multiple EGF-like domains protein 12, multiple EGF-like-domains 12, multiple epidermal growth factor-like domains protein 12,
• Gene location: 1q23.1 (156893696: 156916428)     Exons: 25     NC_000001.11
• Gene summary(Entrez): 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]
• OMIM: 612122

Protein Summary

• Protein general information: Q5VY43  
  • Name: Platelet endothelial aggregation receptor 1 (hPEAR1) (Multiple epidermal growth factor like domains protein 12) (Multiple EGF like domains protein 12)
  • Length: 1037  
  • Mass: 110666
  • 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 cell
• Sequence:

  MSPPLCPLLLLAVGLRLAGTLNPSDPNTCSFWESFTTTTKESHSRPFSLLPSEPCERPWEGPHTCPQPTVVYRTV
  YRQVVKTDHRQRLQCCHGFYESRGFCVPLCAQECVHGRCVAPNQCQCVPGWRGDDCSSECAPGMWGPQCDKPCSC
  GNNSSCDPKSGVCSCPSGLQPPNCLQPCTPGYYGPACQFRCQCHGAPCDPQTGACFCPAERTGPSCDVSCSQGTS
  GFFCPSTHSCQNGGVFQTPQGSCSCPPGWMGTICSLPCPEGFHGPNCSQECRCHNGGLCDRFTGQCRCAPGYTGD
  RCREECPVGRFGQDCAETCDCAPDARCFPANGACLCEHGFTGDRCTDRLCPDGFYGLSCQAPCTCDREHSLSCHP
  MNGECSCLPGWAGLHCNESCPQDTHGPGCQEHCLCLHGGVCQATSGLCQCAPGYTGPHCASLCPPDTYGVNCSAR
  CSCENAIACSPIDGECVCKEGWQRGNCSVPCPPGTWGFSCNASCQCAHEAVCSPQTGACTCTPGWHGAHCQLPCP
  KGQFGEGCASRCDCDHSDGCDPVHGRCQCQAGWMGARCHLSCPEGLWGVNCSNTCTCKNGGTCLPENGNCVCAPG
  FRGPSCQRSCQPGRYGKRCVPCKCANHSFCHPSNGTCYCLAGWTGPDCSQPCPPGHWGENCAQTCQCHHGGTCHP
  QDGSCICPLGWTGHHCLEGCPLGTFGANCSQPCQCGPGEKCHPETGACVCPPGHSGAPCRIGIQEPFTVMPTTPV
  AYNSLGAVIGIAVLGSLVVALVALFIGYRHWQKGKEHHHLAVAYSSGRLDGSEYVMPDVPPSYSHYYSNPSYHTL
  SQCSPNPPPPNKVPGPLFASLQNPERPGGAQGHDNHTTLPADWKHRREPPPGPLDRGSSRLDRSYSYSYSNGPGP
  FYNKGLISEEELGASVASLSSENPYATIRDLPSLPGGPRESSYMEMKGPPSGSPPRQPPQFWDSQRRRQPQPQRD
  SGTYEQPSPLIHDRDSVGSQPPLPPGLPPGHYDSPKNSHIPGHYDLPPVRHPPSPPLRRQDR

• Structural information:
  • Protein Domains: (25..10-)
    (/note="EMI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00384-)
    (102..13-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (225..26-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0007-)
  • Interpro: IPR013032  IPR000742  IPR011489  IPR002049  
  • Prosite: PS00022 PS01186 PS50026 PS51041
  • STRING: ENSP00000344465
• Other Databases: GeneCards:  PEAR1  Malacards:  PEAR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070527	platelet aggregation	IEA	biological process
GO:0043654	recognition of apoptotic cell	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0043491	protein kinase B signaling	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0014065	phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0001891	phagocytic cup	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray