LOCUS       NP_001073940            1037 aa            linear   PRI 10-FEB-2025
DEFINITION  platelet endothelial aggregation receptor 1 isoform 1 precursor
            [Homo sapiens].
ACCESSION   NP_001073940 XP_371320
VERSION     NP_001073940.1
DBSOURCE    REFSEQ: accession NM_001080471.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1037)
  AUTHORS   Zhang,L., Meng,Z., Wang,H. and Miao,Y.
  TITLE     Effect of PEAR1, PTGS1 gene polymorphisms on the recurrence of
            aspirin-treated patients with ischemic stroke in the Han population
            of China: A 4-year follow-up study
  JOURNAL   Medicine (Baltimore) 103 (19), e38031 (2024)
   PUBMED   38728491
  REMARK    GeneRIF: Effect of PEAR1, PTGS1 gene polymorphisms on the
            recurrence of aspirin-treated patients with ischemic stroke in the
            Han population of China: A 4-year follow-up study.
REFERENCE   2  (residues 1 to 1037)
  AUTHORS   Tang,R., Lyu,X., Sun,J. and Li,H.
  TITLE     Genetic Polymorphisms of GP1BA, PEAR1, and PAI-1 may be Associated
            with Serum sIgE and Blood Eosinophil Levels in Chinese Patients
            with Allergic Diseases
  JOURNAL   Endocr Metab Immune Disord Drug Targets 24 (10), 1215-1223 (2024)
   PUBMED   38299390
  REMARK    GeneRIF: Genetic Polymorphisms of GP1BA, PEAR1, and PAI-1 may be
            Associated with Serum sIgE and Blood Eosinophil Levels in Chinese
            Patients with Allergic Diseases.
REFERENCE   3  (residues 1 to 1037)
  AUTHORS   Elenbaas,J.S., Pudupakkam,U., Ashworth,K.J., Kang,C.J., Patel,V.,
            Santana,K., Jung,I.H., Lee,P.C., Burks,K.H., Amrute,J.M.,
            Mecham,R.P., Halabi,C.M., Alisio,A., Di Paola,J. and Stitziel,N.O.
  TITLE     SVEP1 is an endogenous ligand for the orphan receptor PEAR1
  JOURNAL   Nat Commun 14 (1), 850 (2023)
   PUBMED   36792666
  REMARK    Erratum:[Nat Commun. 2023 Mar 17;14(1):1511. doi:
            10.1038/s41467-023-37005-x.. PMID: 36932061]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1037)
  AUTHORS   Zhang,S., Qu,K., Lyu,S., Hoyle,D.L., Smith,C., Cheng,L., Cheng,T.,
            Shen,J. and Wang,Z.Z.
  TITLE     PEAR1 is a potential regulator of early hematopoiesis of human
            pluripotent stem cells
  JOURNAL   J Cell Physiol 238 (1), 179-194 (2023)
   PUBMED   36436185
  REMARK    GeneRIF: PEAR1 is a potential regulator of early hematopoiesis of
            human pluripotent stem cells.
REFERENCE   5  (residues 1 to 1037)
  AUTHORS   Zhang,X., Li,S., Zhao,Y., Tang,N., Jia,T., Zhou,P., Liu,J., Shi,L.,
            Lu,C.Y. and Nie,X.
  TITLE     Genetic variants of PEAR1 and ischemic clinical outcomes in
            coronary artery disease patients: a systematic review and
            meta-analysis
  JOURNAL   Pharmacogenomics 22 (10), 641-648 (2021)
   PUBMED   34075782
  REMARK    GeneRIF: Genetic variants of PEAR1 and ischemic clinical outcomes
            in coronary artery disease patients: a systematic review and
            meta-analysis.
REFERENCE   6  (residues 1 to 1037)
  AUTHORS   Faraday,N., Yanek,L.R., Yang,X.P., Mathias,R.,
            Herrera-Galeano,J.E., Suktitipat,B., Qayyum,R., Johnson,A.D.,
            Chen,M.H., Tofler,G.H., Ruczinski,I., Friedman,A.D., Gylfason,A.,
            Thorsteinsdottir,U., Bray,P.F., O'Donnell,C.J., Becker,D.M. and
            Becker,L.C.
  TITLE     Identification of a specific intronic PEAR1 gene variant associated
            with greater platelet aggregability and protein expression
  JOURNAL   Blood 118 (12), 3367-3375 (2011)
   PUBMED   21791418
  REMARK    GeneRIF: A specific intronic PEAR1 gene variant is ientified that
            associated with greater platelet aggregability and protein
            expression.
REFERENCE   7  (residues 1 to 1037)
  AUTHORS   Johnson,A.D., Yanek,L.R., Chen,M.H., Faraday,N., Larson,M.G.,
            Tofler,G., Lin,S.J., Kraja,A.T., Province,M.A., Yang,Q.,
            Becker,D.M., O'Donnell,C.J. and Becker,L.C.
  TITLE     Genome-wide meta-analyses identifies seven loci associated with
            platelet aggregation in response to agonists
  JOURNAL   Nat Genet 42 (7), 608-613 (2010)
   PUBMED   20526338
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (residues 1 to 1037)
  AUTHORS   Jones,C.I., Bray,S., Garner,S.F., Stephens,J., de Bono,B.,
            Angenent,W.G., Bentley,D., Burns,P., Coffey,A., Deloukas,P.,
            Earthrowl,M., Farndale,R.W., Hoylaerts,M.F., Koch,K., Rankin,A.,
            Rice,C.M., Rogers,J., Samani,N.J., Steward,M., Walker,A.,
            Watkins,N.A., Akkerman,J.W., Dudbridge,F., Goodall,A.H. and
            Ouwehand,W.H.
  CONSRTM   Bloodomics Consortium
  TITLE     A functional genomics approach reveals novel quantitative trait
            loci associated with platelet signaling pathways
  JOURNAL   Blood 114 (7), 1405-1416 (2009)
   PUBMED   19429868
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 1037)
  AUTHORS   Herrera-Galeano,J.E., Becker,D.M., Wilson,A.F., Yanek,L.R.,
            Bray,P., Vaidya,D., Faraday,N. and Becker,L.C.
  TITLE     A novel variant in the platelet endothelial aggregation receptor-1
            gene is associated with increased platelet aggregability
  JOURNAL   Arterioscler Thromb Vasc Biol 28 (8), 1484-1490 (2008)
   PUBMED   18511696
  REMARK    GeneRIF: C allele of PEAR1 (Platelet endothelial aggregation
            receptor-1)was generally associated in both ethnic groups with
            increased aggregation of native platelets
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (residues 1 to 1037)
  AUTHORS   Nanda,N., Bao,M., Lin,H., Clauser,K., Komuves,L., Quertermous,T.,
            Conley,P.B., Phillips,D.R. and Hart,M.J.
  TITLE     Platelet endothelial aggregation receptor 1 (PEAR1), a novel
            epidermal growth factor repeat-containing transmembrane receptor,
            participates in platelet contact-induced activation
  JOURNAL   J Biol Chem 280 (26), 24680-24689 (2005)
   PUBMED   15851471
  REMARK    GeneRIF: PEAR1 is a novel platelet receptor that signals secondary
            to alpha(IIb)beta(3)-mediated platelet-platelet contacts
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL158169.17 and AL356104.6.
            
            On Jan 18, 2007 this sequence version replaced XP_371320.4.
            
            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].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.2212880.1,
                                           SRR14038195.123446.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000292357.8/ ENSP00000292357.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1037
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.1"
     Protein         1..1037
                     /product="platelet endothelial aggregation receptor 1
                     isoform 1 precursor"
                     /note="multiple EGF-like-domains 12; multiple EGF-like
                     domains protein 12; multiple epidermal growth factor-like
                     domains protein 12"
                     /calculated_mol_wt=108650
     sig_peptide     1..20
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=2036
     mat_peptide     21..1037
                     /product="Platelet endothelial aggregation receptor 1.
                     /id=PRO_0000309737"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VY43.1)"
                     /calculated_mol_wt=108650
     Region          26..96
                     /region_name="EMI"
                     /note="EMI domain; pfam07546"
                     /db_xref="CDD:462204"
     Site            152
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5VY43.1)"
     Site            271
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5VY43.1)"
     Site            476
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5VY43.1)"
     Site            575
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5VY43.1)"
     Site            634
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5VY43.1)"
     Site            756..776
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VY43.1)"
     Region          824..891
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VY43.1)"
     Site            925
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000269|PubMed:15851471; propagated from
                     UniProtKB/Swiss-Prot (Q5VY43.1)"
     Region          926..1037
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5VY43.1)"
     Site            953
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15851471; propagated from
                     UniProtKB/Swiss-Prot (Q5VY43.1)"
     Site            1029
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:15851471; propagated from
                     UniProtKB/Swiss-Prot (Q5VY43.1)"
     CDS             1..1037
                     /gene="PEAR1"
                     /gene_synonym="JEDI; MEGF12"
                     /coded_by="NM_001080471.3:130..3243"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS30892.1"
                     /db_xref="GeneID:375033"
                     /db_xref="HGNC:HGNC:33631"
                     /db_xref="MIM:610278"
ORIGIN      
        1 mspplcplll lavglrlagt lnpsdpntcs fwesfttttk eshsrpfsll psepcerpwe
       61 gphtcpqptv vyrtvyrqvv ktdhrqrlqc chgfyesrgf cvplcaqecv hgrcvapnqc
      121 qcvpgwrgdd cssecapgmw gpqcdkpcsc gnnsscdpks gvcscpsglq ppnclqpctp
      181 gyygpacqfr cqchgapcdp qtgacfcpae rtgpscdvsc sqgtsgffcp sthscqnggv
      241 fqtpqgscsc ppgwmgtics lpcpegfhgp ncsqecrchn gglcdrftgq crcapgytgd
      301 rcreecpvgr fgqdcaetcd capdarcfpa ngaclcehgf tgdrctdrlc pdgfyglscq
      361 apctcdrehs lschpmngec sclpgwaglh cnescpqdth gpgcqehclc lhggvcqats
      421 glcqcapgyt gphcaslcpp dtygvncsar cscenaiacs pidgecvcke gwqrgncsvp
      481 cppgtwgfsc nascqcahea vcspqtgact ctpgwhgahc qlpcpkgqfg egcasrcdcd
      541 hsdgcdpvhg rcqcqagwmg archlscpeg lwgvncsntc tcknggtclp engncvcapg
      601 frgpscqrsc qpgrygkrcv pckcanhsfc hpsngtcycl agwtgpdcsq pcppghwgen
      661 caqtcqchhg gtchpqdgsc icplgwtghh clegcplgtf gancsqpcqc gpgekchpet
      721 gacvcppghs gapcrigiqe pftvmpttpv aynslgavig iavlgslvva lvalfigyrh
      781 wqkgkehhhl avayssgrld gseyvmpdvp psyshyysnp syhtlsqcsp nppppnkvpg
      841 plfaslqnpe rpggaqghdn httlpadwkh rrepppgpld rgssrldrsy sysysngpgp
      901 fynkglisee elgasvasls senpyatird lpslpggpre ssymemkgpp sgspprqppq
      961 fwdsqrrrqp qpqrdsgtye qpsplihdrd svgsqpplpp glppghydsp knshipghyd
     1021 lppvrhppsp plrrqdr
//
