LOCUS       NM_000407                959 bp    mRNA    linear   PRI 16-MAR-2023
DEFINITION  Homo sapiens glycoprotein Ib platelet subunit beta (GP1BB), mRNA.
ACCESSION   NM_000407
VERSION     NM_000407.5
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 959)
  AUTHORS   Barozzi S, Pecci A, Marinoni M, Fontana G, Zanchetta ME, Noris P,
            Savoia A and Faleschini M.
  TITLE     GP1BB c.179C > T is the most frequent cause of monoallelic
            Bernard-Soulier syndrome in the Italian population after the
            Bolzano variant: a report of two new families
  JOURNAL   Ann Hematol 102 (3), 677-679 (2023)
   PUBMED   36539614
  REMARK    GeneRIF: GP1BB c.179C > T is the most frequent cause of monoallelic
            Bernard-Soulier syndrome in the Italian population after the
            Bolzano variant: a report of two new families.
REFERENCE   2  (bases 1 to 959)
  AUTHORS   Dib F, Quemener A, Bayart S, Boisseau P, Babuty A, Trossaert M,
            Sigaud M, Ternisien C, Drillaud N, Eveillard M, Guillet B, Bene MC
            and Fouassier M.
  TITLE     Biological, clinical features and modelling of heterozygous
            variants of glycoprotein Ib platelet subunit alpha (GP1BA) and
            glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for
            constitutional thrombocytopenia
  JOURNAL   Br J Haematol 199 (5), 744-753 (2022)
   PUBMED   36173017
  REMARK    GeneRIF: Biological, clinical features and modelling of
            heterozygous variants of glycoprotein Ib platelet subunit alpha
            (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes
            responsible for constitutional thrombocytopenia.
REFERENCE   3  (bases 1 to 959)
  AUTHORS   Dunstan-Harrison C, Morison IM and Ledgerwood EC.
  TITLE     A novel frameshift GP1BB mutation causes autosomal dominant
            macrothrombocytopenia with decreased vWF receptor expression but
            normal platelet aggregation
  JOURNAL   Platelets 33 (2), 324-327 (2022)
   PUBMED   33813986
  REMARK    GeneRIF: A novel frameshift GP1BB mutation causes autosomal
            dominant macrothrombocytopenia with decreased vWF receptor
            expression but normal platelet aggregation.
REFERENCE   4  (bases 1 to 959)
  AUTHORS   Barozzi S, Bozzi V, De Rocco D, Giangregorio T, Noris P, Savoia A
            and Pecci A.
  TITLE     A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic
            Domain of GPIbbeta in the Pathophysiology of Bernard-Soulier
            Syndrome and GPIb-IX Complex Assembly
  JOURNAL   Int J Mol Sci 22 (19), 10190 (2021)
   PUBMED   34638529
  REMARK    GeneRIF: A Novel Mutation in GP1BB Reveals the Role of the
            Cytoplasmic Domain of GPIbbeta in the Pathophysiology of
            Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 959)
  AUTHORS   Yagi M, Zieger B, Roth GJ and Ware J.
  TITLE     Structure and expression of the human septin gene HCDCREL-1
  JOURNAL   Gene 212 (2), 229-236 (1998)
   PUBMED   9611266
REFERENCE   6  (bases 1 to 959)
  AUTHORS   Zieger B, Hashimoto Y and Ware J.
  TITLE     Alternative expression of platelet glycoprotein Ib(beta) mRNA from
            an adjacent 5' gene with an imperfect polyadenylation signal
            sequence
  JOURNAL   J Clin Invest 99 (3), 520-525 (1997)
   PUBMED   9022087
REFERENCE   7  (bases 1 to 959)
  AUTHORS   Yagi M, Edelhoff S, Disteche CM and Roth GJ.
  TITLE     Structural characterization and chromosomal location of the gene
            encoding human platelet glycoprotein Ib beta
  JOURNAL   J Biol Chem 269 (26), 17424-17427 (1994)
   PUBMED   8021244
REFERENCE   8  (bases 1 to 959)
  AUTHORS   Modderman PW, Admiraal LG, Sonnenberg A and von dem Borne AE.
  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 959)
  AUTHORS   Kroll MH, Harris TS, Moake JL, Handin RI and Schafer AI.
  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   10 (bases 1 to 959)
  AUTHORS   Wardell MR, Reynolds CC, Berndt MC, Wallace RW and Fox JE.
  TITLE     Platelet glycoprotein Ib beta is phosphorylated on serine 166 by
            cyclic AMP-dependent protein kinase
  JOURNAL   J Biol Chem 264 (26), 15656-15661 (1989)
   PUBMED   2504723
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC000093.5.
            
            On Aug 31, 2019 this sequence version replaced NM_000407.4.
            
            Summary: Platelet glycoprotein Ib (GPIb) is a heterodimeric
            transmembrane protein consisting of a disulfide-linked 140 kD alpha
            chain and 22 kD beta chain. It is part of the GPIb-V-IX system that
            constitutes the receptor for von Willebrand factor (VWF), and
            mediates platelet adhesion in the arterial circulation. GPIb alpha
            chain provides the VWF binding site, and GPIb beta contributes to
            surface expression of the receptor and participates in
            transmembrane signaling through phosphorylation of its
            intracellular domain. Mutations in the GPIb beta subunit have been
            associated with Bernard-Soulier syndrome, velocardiofacial syndrome
            and giant platelet disorder. The 206 amino acid precursor of GPIb
            beta is synthesized from a 1.0 kb mRNA expressed in plateletes and
            megakaryocytes. A 411 amino acid protein arising from a longer,
            unspliced transcript in endothelial cells has been described;
            however, the authenticity of this product has been questioned. Yet
            another less abundant GPIb beta mRNA species of 3.5 kb, expressed
            in nonhematopoietic tissues such as endothelium, brain and heart,
            was shown to result from inefficient usage of a non-consensus polyA
            signal in the neighboring upstream gene (SEPT5, septin 5). In the
            absence of polyadenylation from its own imperfect site, the SEPT5
            gene produces read-through transcripts that use the consensus polyA
            signal of this gene. [provided by RefSeq, Dec 2010].
            
            Sequence Note: This RefSeq record was created from genomic sequence
            data to make the sequence consistent with the reference genome
            assembly. The genomic coordinates used for the transcript record
            were based on transcript 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 :: J03259.1, SRR14038192.1369847.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366425.4/ ENSP00000383382.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AC000093.5         20160-20163
            5-41                AC000093.5         20164-20200
            42-959              AC000093.5         20475-21392
FEATURES             Location/Qualifiers
     source          1..959
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..959
                     /gene="GP1BB"
                     /gene_synonym="BDPLT1; BS; CD42C; GPIBB; GPIbbeta"
                     /note="glycoprotein Ib platelet subunit beta"
                     /db_xref="GeneID:2812"
                     /db_xref="HGNC:HGNC:4440"
                     /db_xref="MIM:138720"
     exon            1..41
                     /gene="GP1BB"
                     /gene_synonym="BDPLT1; BS; CD42C; GPIBB; GPIbbeta"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..652
                     /gene="GP1BB"
                     /gene_synonym="BDPLT1; BS; CD42C; GPIBB; GPIbbeta"
                     /note="platelet glycoprotein Ib beta chain; glycoprotein
                     Ib platelet beta subunit; GP-Ib beta; antigen CD42b-beta;
                     nuclear localization signal deleted in velocardiofacial
                     syndrome; glycoprotein Ib (platelet), beta polypeptide;
                     platelet membrane glycoprotein Ib beta"
                     /codon_start=1
                     /product="platelet glycoprotein Ib beta chain precursor"
                     /protein_id="NP_000398.1"
                     /db_xref="CCDS:CCDS42980.1"
                     /db_xref="GeneID:2812"
                     /db_xref="HGNC:HGNC:4440"
                     /db_xref="MIM:138720"
                     /translation="MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGL
                     TWASLPTAFPVDTTELVLTGNNLTALPPGLLDALPALRTAHLGANPWRCDCRLVPLRA
                     WLAGRPERAPYRDLRCVAPPALRGRLLPYLAEDELRAACAPGPLCWGALAAQLALLGL
                     GLLHALLLVLLLCRLRRLRARARARAAARLSLTDPLVAERAGTDES"
     exon            42..959
                     /gene="GP1BB"
                     /gene_synonym="BDPLT1; BS; CD42C; GPIBB; GPIbbeta"
                     /inference="alignment:Splign:2.1.0"
     regulatory      940..945
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GP1BB"
                     /gene_synonym="BDPLT1; BS; CD42C; GPIBB; GPIbbeta"
                     /note="hexamer: AATAAA"
     polyA_site      959
                     /gene="GP1BB"
                     /gene_synonym="BDPLT1; BS; CD42C; GPIBB; GPIbbeta"
                     /note="major polyA site"
ORIGIN      
        1 gcagagtaag ccgggctgcc gtcttctcgc catgggctcc gggccgcgcg gggcgctgag
       61 cttactgctc ctgctgctgg ccccgccgag ccgcccggcc gcaggttgcc cggcgccctg
      121 tagctgcgcg gggacgctcg tggactgcgg gcgccgcggg ctgacttggg cctcgctgcc
      181 gaccgccttc cctgtcgaca caaccgagct ggtgctgacc ggcaacaacc tgacggcgct
      241 gccgccgggg ctgctggacg cgctgcccgc gctgcgcacc gcacacctgg gcgccaaccc
      301 ctggcgctgc gactgccgcc ttgtgccgct gcgcgcctgg ctggccggcc gccccgagcg
      361 tgcgccctac cgcgacctgc gttgcgtggc gcccccagcg ctgcgcggcc gcctgctgcc
      421 ctatctggcc gaggacgagc tgcgcgccgc ttgcgctccc ggcccgctct gctggggggc
      481 gctggcggcg cagcttgcgc tgctgggcct tgggctgctg cacgcgttgc tgctggtgct
      541 gctgctgtgc cgcctgcgga ggctgcgggc ccgggcccgc gctcgcgccg cagcccggct
      601 gtcgctgacc gacccgctgg tggccgagcg agccggaacc gacgagtcct gaggagagaa
      661 ccggtgcgtc ctgaggagag aaccggcgct gggcaacacg ggcctgcaaa ctcgacagga
      721 ccctgcccga ggggccctcg cgccaacctg gaccggtccc cgcctcctcc gctgcccaat
      781 ctctcagacc caccccacct gcaggcccag accacgtggg acagaactcc tgcccaccct
      841 accccgaggg aggcgaaccc gcacttccag gcttgggagg accatggggc acaatgcggt
      901 ccagaccctg ctgcgtctcc cttccaaact ctggtgctga ataaaccctt ctgatctgg
//
