LOCUS       NM_000174                877 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens glycoprotein IX platelet (GP9), mRNA.
ACCESSION   NM_000174
VERSION     NM_000174.5
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  (bases 1 to 877)
  AUTHORS   Tsai,R. and Interlandi,G.
  TITLE     Oxidation shuts down an auto-inhibitory mechanism of von Willebrand
            factor
  JOURNAL   Proteins 89 (6), 731-741 (2021)
   PUBMED   33550613
  REMARK    GeneRIF: Oxidation shuts down an auto-inhibitory mechanism of von
            Willebrand factor.
REFERENCE   2  (bases 1 to 877)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 877)
  AUTHORS   Mayer,L., Jasztal,M., Pardo,M., Aguera de Haro,S., Collins,J.,
            Bariana,T.K., Smethurst,P.A., Grassi,L., Petersen,R., Nurden,P.,
            Favier,R., Yu,L., Meacham,S., Astle,W.J., Choudhary,J., Yue,W.W.,
            Ouwehand,W.H. and Guerrero,J.A.
  TITLE     Nbeal2 interacts with Dock7, Sec16a, and Vac14
  JOURNAL   Blood 131 (9), 1000-1011 (2018)
   PUBMED   29187380
REFERENCE   4  (bases 1 to 877)
  AUTHORS   Cheng,Z., Gao,W., Fan,X., Chen,X., Mei,H., Liu,J., Luo,X. and Hu,Y.
  TITLE     Extracellular signal-regulated kinase 5 associates with casein
            kinase II to regulate GPIb-IX-mediated platelet activation via the
            PTEN/PI3K/Akt pathway
  JOURNAL   J Thromb Haemost 15 (8), 1679-1688 (2017)
   PUBMED   28603902
  REMARK    GeneRIF: ERK5 associates with CKII to play essential roles in
            GPIb-IX-mediated platelet activation via the PTEN/PI3K/Akt pathway.
REFERENCE   5  (bases 1 to 877)
  AUTHORS   Jallu,V., Beranger,T., Bianchi,F., Casale,C., Chenet,C., Ferre,N.,
            Philippe,S., Quesne,J., Martageix,C. and Petermann,R.
  TITLE     Cab4b, the first human platelet antigen carried by glycoprotein IX
            discovered in a context of severe neonatal thrombocytopenia
  JOURNAL   J Thromb Haemost 15 (8), 1646-1654 (2017)
   PUBMED   28561420
  REMARK    GeneRIF: Case Report: suggest that alloantibodies directed against
            Cab4b, the first human platelet antigen carried by glycoprotein IX,
            can induce severe neonatal thrombocytopenia.
REFERENCE   6  (bases 1 to 877)
  AUTHORS   Modderman,P.W., Admiraal,L.G., Sonnenberg,A. and von dem Borne,A.E.
  TITLE     Glycoproteins V and Ib-IX form a noncovalent complex in the
            platelet membrane
  JOURNAL   J Biol Chem 267 (1), 364-369 (1992)
   PUBMED   1730602
REFERENCE   7  (bases 1 to 877)
  AUTHORS   Kroll,M.H., Harris,T.S., Moake,J.L., Handin,R.I. and Schafer,A.I.
  TITLE     von Willebrand factor binding to platelet GpIb initiates signals
            for platelet activation
  JOURNAL   J Clin Invest 88 (5), 1568-1573 (1991)
   PUBMED   1939645
REFERENCE   8  (bases 1 to 877)
  AUTHORS   Hickey,M.J., Deaven,L.L. and Roth,G.J.
  TITLE     Human platelet glycoprotein IX. Characterization of cDNA and
            localization of the gene to chromosome 3
  JOURNAL   FEBS Lett 274 (1-2), 189-192 (1990)
   PUBMED   2253772
REFERENCE   9  (bases 1 to 877)
  AUTHORS   Andrews,R.K., Booth,W.J., Gorman,J.J., Castaldi,P.A. and
            Berndt,M.C.
  TITLE     Purification of botrocetin from Bothrops jararaca venom. Analysis
            of the botrocetin-mediated interaction between von Willebrand
            factor and the human platelet membrane glycoprotein Ib-IX complex
  JOURNAL   Biochemistry 28 (21), 8317-8326 (1989)
   PUBMED   2557900
REFERENCE   10 (bases 1 to 877)
  AUTHORS   Du,X., Beutler,L., Ruan,C., Castaldi,P.A. and Berndt,M.C.
  TITLE     Glycoprotein Ib and glycoprotein IX are fully complexed in the
            intact platelet membrane
  JOURNAL   Blood 69 (5), 1524-1527 (1987)
   PUBMED   2436691
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X52997.1 and BC030229.1.
            
            On Feb 27, 2020 this sequence version replaced NM_000174.4.
            
            Summary: This gene encodes a small membrane glycoprotein found on
            the surface of human platelets. It forms a 1-to-1 noncovalent
            complex with glycoprotein Ib, a platelet surface membrane
            glycoprotein complex that functions as a receptor for von
            Willebrand factor. The complete receptor complex includes
            noncovalent association of the alpha and beta subunits with the
            protein encoded by this gene and platelet glycoprotein V. Defects
            in this gene are a cause of Bernard-Soulier syndrome, also known as
            giant platelet disease. These patients have unusually large
            platelets and have a clinical bleeding tendency. [provided by
            RefSeq, Oct 2008].
            
            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 :: BC030229.1, BI767815.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307395.5/ ENSP00000303942.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-761               X52997.1           13-773
            762-877             BC030229.1         739-854
FEATURES             Location/Qualifiers
     source          1..877
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
     gene            1..877
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /note="glycoprotein IX platelet"
                     /db_xref="GeneID:2815"
                     /db_xref="HGNC:HGNC:4444"
                     /db_xref="MIM:173515"
     exon            1..72
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /inference="alignment:Splign:2.1.0"
     exon            73..198
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /inference="alignment:Splign:2.1.0"
     exon            199..877
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /inference="alignment:Splign:2.1.0"
     CDS             211..744
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /note="glycoprotein 9"
                     /codon_start=1
                     /product="platelet glycoprotein IX precursor"
                     /protein_id="NP_000165.1"
                     /db_xref="CCDS:CCDS3055.1"
                     /db_xref="GeneID:2815"
                     /db_xref="HGNC:HGNC:4444"
                     /db_xref="MIM:173515"
                     /translation="MPAWGALFLLWATAEATKDCPSPCTCRALETMGLWVDCRGHGLT
                     ALPALPARTRHLLLANNSLQSVPPGAFDHLPQLQTLDVTQNPWHCDCSLTYLRLWLED
                     RTPEALLQVRCASPSLAAHGPLGRLTGYQLGSCGWQLQASWVRPGVLWDVALVAVAAL
                     GLALLAGLLCATTEALD"
     regulatory      847..852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /note="hexamer: AATAAA"
     polyA_site      877
                     /gene="GP9"
                     /gene_synonym="CD42a; GPIX"
                     /note="major polyA site"
ORIGIN      
        1 atagagttgc cacccaggcc tcagccagga cctttcaggc cagacaggag cacctgacca
       61 aaggcttcac agccgccctc accgcccggc cttctacggt gtccagagac agttagccag
      121 gcctgggctg ggcacactcc accttcccta gtcaccagct ggtttcccag aggagaaggc
      181 tgagacccga gaagggagcc agcctgtccc atgcctgcct ggggagccct gttcctgctc
      241 tgggccacag cagaggccac caaggactgc cccagcccat gtacctgccg cgccctggaa
      301 accatggggc tgtgggtgga ctgcaggggc cacggactca cggccctgcc tgccctgccg
      361 gcccgcaccc gccaccttct gctggccaac aacagccttc agtccgtgcc cccgggagcc
      421 tttgaccacc tgccccagct gcagaccctc gatgtgacgc agaacccctg gcactgtgac
      481 tgcagcctca cctatctgcg cctctggctg gaggaccgca cgcccgaggc cctgctgcag
      541 gtccgctgtg ccagccccag cctcgctgcc catggcccgc tgggccggct gacaggctac
      601 cagctgggca gctgtggctg gcagctgcag gcgtcctggg tgcgcccggg ggtcttgtgg
      661 gacgtggcgc tggtcgccgt ggccgcgctg ggcctggctc ttctggctgg cctgctgtgt
      721 gccaccacag aggccctgga ttgagccagg cccccagaac ccctggctcc aggccagggg
      781 gccagtccct gaggcaggtc cccagactcc accaagcctg gtcagcccaa accaccagaa
      841 gcccagaata aactggcagc tcagctgttt tatataa
//
