LOCUS       NM_000173               2514 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens glycoprotein Ib platelet subunit alpha (GP1BA), mRNA.
ACCESSION   NM_000173
VERSION     NM_000173.7
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 2514)
  AUTHORS   Ellis,M.L., Terreaux,A., Alwis,I., Smythe,R., Perdomo,J., Eckly,A.,
            Cranmer,S.L., Passam,F.H., Maclean,J., Schoenwaelder,S.M.,
            Ruggeri,Z.M., Lanza,F., Taoudi,S., Yuan,Y. and Jackson,S.P.
  TITLE     GPIbalpha-filamin A interaction regulates megakaryocyte
            localization and budding during platelet biogenesis
  JOURNAL   Blood 143 (4), 342-356 (2024)
   PUBMED   37922495
  REMARK    GeneRIF: GPIbalpha-filamin A interaction regulates megakaryocyte
            localization and budding during platelet biogenesis.
REFERENCE   2  (bases 1 to 2514)
  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  (bases 1 to 2514)
  AUTHORS   Zaid,Y., Khalki,L., Jalali,F., Tijani,Y., Zaid,N., Naya,A.,
            Oudghiri,M., Akarid,K., Agbani,E.O. and Guessous,F.
  TITLE     Low alpha-Thrombin/GPIbalpha Interaction Is a Potential Contributor
            to Platelet Hyper-reactivity in COVID-19 Patients
  JOURNAL   Thromb Haemost 123 (8), 804-807 (2023)
   PUBMED   37044132
  REMARK    GeneRIF: Low alpha-Thrombin/GPIbalpha Interaction Is a Potential
            Contributor to Platelet Hyper-reactivity in COVID-19 Patients.
REFERENCE   4  (bases 1 to 2514)
  AUTHORS   Shi,T.T., Liu,H.Y., Zhu,X.R., Xin,Z., Hua,L., Xie,R.R., Sun,R.,
            Cao,X. and Yang,J.K.
  TITLE     Integrated Proteomics and Metabolomics Analyses of Serum in Chinese
            Patients with Severe and Active Graves' Orbitopathy: A
            Cross-sectional Study
  JOURNAL   Endocr Metab Immune Disord Drug Targets 23 (9), 1151-1161 (2023)
   PUBMED   36809953
  REMARK    GeneRIF: Integrated Proteomics and Metabolomics Analyses of Serum
            in Chinese Patients with Severe and Active Graves' Orbitopathy: A
            Cross-sectional Study.
REFERENCE   5  (bases 1 to 2514)
  AUTHORS   Murata,M., Furihata,K., Ishida,F., Russell,S.R., Ware,J. and
            Ruggeri,Z.M.
  TITLE     Genetic and structural characterization of an amino acid dimorphism
            in glycoprotein Ib alpha involved in platelet transfusion
            refractoriness
  JOURNAL   Blood 79 (11), 3086-3090 (1992)
   PUBMED   1586750
REFERENCE   6  (bases 1 to 2514)
  AUTHORS   Lopez,J.A., Ludwig,E.H. and McCarthy,B.J.
  TITLE     Polymorphism of human glycoprotein Ib alpha results from a variable
            number of tandem repeats of a 13-amino acid sequence in the
            mucin-like macroglycopeptide region. Structure/function
            implications
  JOURNAL   J Biol Chem 267 (14), 10055-10061 (1992)
   PUBMED   1577776
REFERENCE   7  (bases 1 to 2514)
  AUTHORS   Miller,J.L., Lyle,V.A. and Cunningham,D.
  TITLE     Mutation of leucine-57 to phenylalanine in a platelet glycoprotein
            Ib alpha leucine tandem repeat occurring in patients with an
            autosomal dominant variant of Bernard-Soulier disease
  JOURNAL   Blood 79 (2), 439-446 (1992)
   PUBMED   1730088
REFERENCE   8  (bases 1 to 2514)
  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   9  (bases 1 to 2514)
  AUTHORS   Girma,J.P., Takahashi,Y., Yoshioka,A., Diaz,J. and Meyer,D.
  TITLE     Ristocetin and botrocetin involve two distinct domains of von
            Willebrand factor for binding to platelet membrane glycoprotein Ib
  JOURNAL   Thromb Haemost 64 (2), 326-332 (1990)
   PUBMED   1702906
REFERENCE   10 (bases 1 to 2514)
  AUTHORS   Titani,K., Takio,K., Handa,M. and Ruggeri,Z.M.
  TITLE     Amino acid sequence of the von Willebrand factor-binding domain of
            platelet membrane glycoprotein Ib
  JOURNAL   Proc Natl Acad Sci U S A 84 (16), 5610-5614 (1987)
   PUBMED   3497398
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY099146.1, KC120774.1 and
            BC027955.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000173.6.
            
            Summary: Glycoprotein Ib (GP Ib) is a platelet surface membrane
            glycoprotein composed of a heterodimer, an alpha chain and a beta
            chain, that is linked by disulfide bonds. The Gp Ib functions as a
            receptor for von Willebrand factor (VWF). The complete receptor
            complex includes noncovalent association of the alpha and beta
            subunits with platelet glycoprotein IX and platelet glycoprotein V.
            The binding of the GP Ib-IX-V complex to VWF facilitates initial
            platelet adhesion to vascular subendothelium after vascular injury,
            and also initiates signaling events within the platelet that lead
            to enhanced platelet activation, thrombosis, and hemostasis. This
            gene encodes the alpha subunit. Mutations in this gene result in
            Bernard-Soulier syndromes and platelet-type von Willebrand disease.
            The coding region of this gene is known to contain a polymophic
            variable number tandem repeat (VNTR) domain that is associated with
            susceptibility to nonarteritic anterior ischemic optic neuropathy.
            [provided by RefSeq, Oct 2013].
            
            CCDS Note: The coding region has been updated to include an
            additional segment in the coding region. This region corresponds to
            a tandem repeat encoding a 13 aa segment, which is present 3 times
            in the reference genome sequence. These tandem repeats are
            described in PMID:1577776. It should be noted that the majority of
            available transcript data represent an allele lacking one or more
            of these repeats, whereas this update represents the number of
            repeats found in the reference genome sequence.
            
            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 :: KC120774.1, KC120776.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
                                                with N-terminal localization
                                                signal (PMID:3497398)
            MANE Ensembl match               :: ENST00000329125.6/
                                                ENSP00000329380.5
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                HY099146.1         3-22
            21-1046             KC120774.1         1-1026
            1047-1047           BC027955.1         1027-1027
            1048-2344           KC120774.1         1027-2323
            2345-2514           BC027955.1         2248-2417
FEATURES             Location/Qualifiers
     source          1..2514
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..2514
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="glycoprotein Ib platelet subunit alpha"
                     /db_xref="GeneID:2811"
                     /db_xref="HGNC:HGNC:4439"
                     /db_xref="MIM:606672"
     exon            1..89
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /inference="alignment:Splign:2.1.0"
     exon            90..2514
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..2054
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="platelet membrane glycoprotein 1b-alpha subunit;
                     platelet glycoprotein Ib alpha chain; glycoprotein Ib
                     platelet alpha subunit; GP-Ib alpha; glycoprotein Ib
                     (platelet), alpha polypeptide; antigen CD42b-alpha;
                     platelet membrane glycoprotein Ib-alpha; mutant platelet
                     membrane glycoprotein Ib-alpha"
                     /codon_start=1
                     /product="platelet glycoprotein Ib alpha chain precursor"
                     /protein_id="NP_000164.5"
                     /db_xref="CCDS:CCDS54068.1"
                     /db_xref="GeneID:2811"
                     /db_xref="HGNC:HGNC:4439"
                     /db_xref="MIM:606672"
                     /translation="MPLLLLLLLLPSPLHPHPICEVSKVASHLEVNCDKRNLTALPPD
                     LPKDTTILHLSENLLYTFSLATLMPYTRLTQLNLDRCELTKLQVDGTLPVLGTLDLSH
                     NQLQSLPLLGQTLPALTVLDVSFNRLTSLPLGALRGLGELQELYLKGNELKTLPPGLL
                     TPTPKLEKLSLANNNLTELPAGLLNGLENLDTLLLQENSLYTIPKGFFGSHLLPFAFL
                     HGNPWLCNCEILYFRRWLQDNAENVYVWKQGVDVKAMTSNVASVQCDNSDKFPVYKYP
                     GKGCPTLGDEGDTDLYDYYPEEDTEGDKVRATRTVVKFPTKAHTTPWGLFYSWSTASL
                     DSQMPSSLHPTQESTKEQTTFPPRWTPNFTLHMESITFSKTPKSTTEPTPSPTTSEPV
                     PEPAPNMTTLEPTPSPTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTSEPAPSPTTP
                     EPTPIPTIATSPTILVSATSLITPKSTFLTTTKPVSLLESTKKTIPELDQPPKLRGVL
                     QGHLESSRNDPFLHPDFCCLLPLGFYVLGLFWLLFASVVLILLLSWVGHVKPQALDSG
                     QGAALTTATQTTHLELQRGRQVTVPRAWLLFLRGSLPTFRSSLFLWVRPNGRVGPLVA
                     GRRPSALSQGRGQDLLSTVSIRYSGHSL"
ORIGIN      
        1 agtcctccat ggggctagaa gagagaagga cggagtcgag tggcacccta gaagacgctc
       61 tgtgccttcg gaggtctttc tgcctgcctg tcctcatgcc tctcctcctc ttgctgctcc
      121 tgctgccaag ccccttacac ccccacccca tctgtgaggt ctccaaagtg gccagccacc
      181 tagaagtgaa ctgtgacaag aggaatctga cagcgctgcc tccagacctg ccgaaagaca
      241 caaccatcct ccacctgagt gagaacctcc tgtacacctt ctccctggca accctgatgc
      301 cttacactcg cctcactcag ctgaacctag ataggtgcga gctcaccaag ctccaggtcg
      361 atgggacgct gccagtgctg gggaccctgg atctatccca caatcagctg caaagcctgc
      421 ccttgctagg gcagacactg cctgctctca ccgtcctgga cgtctccttc aaccggctga
      481 cctcgctgcc tcttggtgcc ctgcgtggtc ttggcgaact ccaagagctc tacctgaaag
      541 gcaatgagct gaagaccctg cccccagggc tcctgacgcc cacacccaag ctggagaagc
      601 tcagtctggc taacaacaac ttgactgagc tccccgctgg gctcctgaat gggctggaga
      661 atctcgacac ccttctcctc caagagaact cgctgtatac aataccaaag ggcttttttg
      721 ggtcccacct cctgcctttt gcttttctcc acgggaaccc ctggttatgc aactgtgaga
      781 tcctctattt tcgtcgctgg ctgcaggaca atgctgaaaa tgtctacgta tggaagcaag
      841 gtgtggacgt caaggccatg acctctaacg tggccagtgt gcagtgtgac aattcagaca
      901 agtttcccgt ctacaaatac ccaggaaagg ggtgccccac ccttggtgat gaaggtgaca
      961 cagacctata tgattactac ccagaagagg acactgaggg cgataaggtg cgtgccacaa
     1021 ggactgtggt caagttcccc accaaagccc atacaacccc ctggggtcta ttctactcat
     1081 ggtccactgc ttctctagac agccaaatgc cctcctcctt gcatccaaca caagaatcca
     1141 ctaaggagca gaccacattc ccacctagat ggaccccaaa tttcacactt cacatggaat
     1201 ccatcacatt ctccaaaact ccaaaatcca ctactgaacc aaccccaagc ccgaccacct
     1261 cagagcccgt cccggagccc gccccaaaca tgaccaccct ggagcccact ccaagcccga
     1321 ccaccccaga gcccacctca gagcccgccc ccagcccgac caccccggag cccacctcag
     1381 agcccgcccc cagcccgacc accccagagc ccacctcaga gcccgccccc agcccgacca
     1441 ccccggagcc caccccaatc ccgaccatcg ccacaagccc gaccatcctg gtgtctgcca
     1501 caagcctgat cactccaaaa agcacatttt taactaccac aaaacccgta tcactcttag
     1561 aatccaccaa aaaaaccatc cctgaacttg atcagccacc aaagctccgt ggggtgctcc
     1621 aagggcattt ggagagctcc agaaatgacc cttttctcca ccccgacttt tgctgcctcc
     1681 tccccctggg cttctatgtc ttgggtctct tctggctgct ctttgcctct gtggtcctca
     1741 tcctgctgct gagctgggtt gggcatgtga aaccacaggc cctggactct ggccaaggtg
     1801 ctgctctgac cacagccaca caaaccacac acctggagct gcagagggga cggcaagtga
     1861 cagtgccccg ggcctggctg ctcttccttc gaggttcgct tcccactttc cgctccagcc
     1921 tcttcctgtg ggtacggcct aatggccgtg tggggcctct agtggcagga aggaggccct
     1981 cagctctgag tcagggtcgt ggtcaggacc tgctgagcac agtgagcatt aggtactctg
     2041 gccacagcct ctgagggtgg gaggtttggg gaccttgaga gaagagcctg tgggctctcc
     2101 tattggaatc tagttggggg ttggaggggt aaggaacaca gggtgatagg gaggggtctt
     2161 agttcctttt tctgtatcag aagccctgtc ttcacaacac aggcacacaa tttcagtccc
     2221 agccaaagca gaaggggtaa tgacatggac ttggcggggg gacaagacaa agctcccgat
     2281 gctgcatggg gcgctgccag atctcacggt gaaccatttt ggcagaatac agcatggttc
     2341 ccacatgcat ctatgcacag aagaaaatct ggaaagtgat ttatcaggat gtgagcactc
     2401 gttgtgtctg gatgttacaa atatgggtgg ttttattttc tttttccctg tttagcattt
     2461 tctagttttc cactattatt gtatattatc tgtataataa aaaataattt tagg
//
