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Homo sapiens glycoprotein Ib platelet subunit alpha (GP1BA), mRNA

NCBI Reference Sequence: NM_000173.6

FASTA Graphics 

LOCUS       NM_000173               2544 bp    mRNA    linear   PRI 24-SEP-2018
DEFINITION  Homo sapiens glycoprotein Ib platelet subunit alpha (GP1BA), mRNA.
ACCESSION   NM_000173
VERSION     NM_000173.6
KEYWORDS    RefSeq.
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 2544)
  AUTHORS   Mayer L, Jasztal M, Pardo M, Aguera de Haro S, Collins J, Bariana
            TK, Smethurst PA, Grassi L, Petersen R, Nurden P, Favier R, Yu L,
            Meacham S, Astle WJ, Choudhary J, Yue WW, Ouwehand WH and Guerrero
            JA.
  TITLE     Nbeal2 interacts with Dock7, Sec16a, and Vac14
  JOURNAL   Blood 131 (9), 1000-1011 (2018)
   PUBMED   29187380
REFERENCE   2  (bases 1 to 2544)
  AUTHORS   Bockelmann D, Naz A, Siddiqi MYJ, Lerner E, Sandrock-Lang K, Shamsi
            TS and Zieger B.
  TITLE     Bernard-Soulier syndrome in Pakistan: Biochemical and molecular
            analyses leading to identification of a novel mutation in GP1BA
  JOURNAL   Haemophilia 24 (1), e18-e22 (2018)
   PUBMED   29119711
  REMARK    GeneRIF: Combined deficiency of factors V and VIII by chance
            coinheritance of parahaemophilia and haemophilia A, but not by
            mutations of either LMAN1 or MCFD2
REFERENCE   3  (bases 1 to 2544)
  AUTHORS   Othman M and Emsley J.
  TITLE     Gene of the issue: GP1BA gene mutations associated with bleeding
  JOURNAL   Platelets 28 (8), 832-836 (2017)
   PUBMED   28961024
  REMARK    GeneRIF: A review of mutations associated with Bernard-Soulier
            Syndrome and platelet type von Willebrand disease (review).
            Review article
REFERENCE   4  (bases 1 to 2544)
  AUTHORS   Interlandi G, Yakovenko O, Tu AY, Harris J, Le J, Chen J, Lopez JA
            and Thomas WE.
  TITLE     Specific electrostatic interactions between charged amino acid
            residues regulate binding of von Willebrand factor to blood
            platelets
  JOURNAL   J. Biol. Chem. 292 (45), 18608-18617 (2017)
   PUBMED   28924049
  REMARK    GeneRIF: Data suggest that an aspartate at position 1261 is the
            most critical residue of VWF N-terminal linker for inhibiting
            binding of VWF A1 domain to GP1BA on platelets in a model
            simulating blood flow velocity; network of salt bridges between
            Asp1261 and rest of VWF A1 domain lock N-terminal linker in place
            such that binding to GP1BA is reduced.
REFERENCE   5  (bases 1 to 2544)
  AUTHORS   Murata M, Furihata K, Ishida F, Russell SR, Ware J and Ruggeri ZM.
  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 2544)
  AUTHORS   Lopez JA, Ludwig EH and McCarthy BJ.
  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 2544)
  AUTHORS   Miller JL, Lyle VA 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 2544)
  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 2544)
  AUTHORS   Girma JP, 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 2544)
  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,
            BC027955.1 and AI357061.1.
            
            [WARNING] On Nov 23, 2018 this sequence was replaced by
            NM_000173.7.
            
            On Jan 15, 2015 this sequence version replaced NM_000173.5.
            
            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 :: HY099146.1, KC120774.1 [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)
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                HY099146.1         1-22
            23-1048             KC120774.1         1-1026
            1049-1049           BC027955.1         1027-1027
            1050-2346           KC120774.1         1027-2323
            2347-2522           BC027955.1         2248-2423
            2523-2544           AI357061.1         1-22                c
FEATURES             Location/Qualifiers
     source          1..2544
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..2544
                     /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..91
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    2..4
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /note="upstream in-frame stop codon"
     exon            92..2523
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..2056
                     /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"
     sig_peptide     98..145
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     146..2053
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /product="Platelet glycoprotein Ib alpha chain"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2)"
     misc_feature    239..301
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 1"
     misc_feature    311..376
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 2"
     misc_feature    377..442
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 3"
     misc_feature    446..508
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 4"
     misc_feature    518..583
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 5"
     misc_feature    590..655
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 6"
     misc_feature    662..727
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     Region: LRR 7"
     misc_feature    971..973
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Sulfotyrosine. {ECO:0000269|PubMed:12087105};
                     propagated from UniProtKB/Swiss-Prot (P07359.2);
                     sulfatation site"
     misc_feature    977..979
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Sulfotyrosine. {ECO:0000269|PubMed:12087105};
                     propagated from UniProtKB/Swiss-Prot (P07359.2);
                     sulfatation site"
     misc_feature    980..982
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Sulfotyrosine. {ECO:0000269|PubMed:12087105};
                     propagated from UniProtKB/Swiss-Prot (P07359.2);
                     sulfatation site"
     misc_feature    1691..1753
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P07359.2);
                     transmembrane region"
     misc_feature    1982..1984
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000244|PubMed:18088087};
                     propagated from UniProtKB/Swiss-Prot (P07359.2);
                     phosphorylation site"
     misc_feature    1991..1993
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000244|PubMed:18088087};
                     propagated from UniProtKB/Swiss-Prot (P07359.2);
                     phosphorylation site"
     regulatory      2498..2503
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
     polyA_site      2523
                     /gene="GP1BA"
                     /gene_synonym="BDPLT1; BDPLT3; BSS; CD42B; CD42b-alpha;
                     DBPLT3; GP1B; GPIbA; GPIbalpha; VWDP"
ORIGIN      
        1 ttagtcctcc atggggctag aagagagaag gacggagtcg agtggcaccc tagaagacgc
       61 tctgtgcctt cggaggtctt tctgcctgcc tgtcctcatg cctctcctcc tcttgctgct
      121 cctgctgcca agccccttac acccccaccc catctgtgag gtctccaaag tggccagcca
      181 cctagaagtg aactgtgaca agaggaatct gacagcgctg cctccagacc tgccgaaaga
      241 cacaaccatc ctccacctga gtgagaacct cctgtacacc ttctccctgg caaccctgat
      301 gccttacact cgcctcactc agctgaacct agataggtgc gagctcacca agctccaggt
      361 cgatgggacg ctgccagtgc tggggaccct ggatctatcc cacaatcagc tgcaaagcct
      421 gcccttgcta gggcagacac tgcctgctct caccgtcctg gacgtctcct tcaaccggct
      481 gacctcgctg cctcttggtg ccctgcgtgg tcttggcgaa ctccaagagc tctacctgaa
      541 aggcaatgag ctgaagaccc tgcccccagg gctcctgacg cccacaccca agctggagaa
      601 gctcagtctg gctaacaaca acttgactga gctccccgct gggctcctga atgggctgga
      661 gaatctcgac acccttctcc tccaagagaa ctcgctgtat acaataccaa agggcttttt
      721 tgggtcccac ctcctgcctt ttgcttttct ccacgggaac ccctggttat gcaactgtga
      781 gatcctctat tttcgtcgct ggctgcagga caatgctgaa aatgtctacg tatggaagca
      841 aggtgtggac gtcaaggcca tgacctctaa cgtggccagt gtgcagtgtg acaattcaga
      901 caagtttccc gtctacaaat acccaggaaa ggggtgcccc acccttggtg atgaaggtga
      961 cacagaccta tatgattact acccagaaga ggacactgag ggcgataagg tgcgtgccac
     1021 aaggactgtg gtcaagttcc ccaccaaagc ccatacaacc ccctggggtc tattctactc
     1081 atggtccact gcttctctag acagccaaat gccctcctcc ttgcatccaa cacaagaatc
     1141 cactaaggag cagaccacat tcccacctag atggacccca aatttcacac ttcacatgga
     1201 atccatcaca ttctccaaaa ctccaaaatc cactactgaa ccaaccccaa gcccgaccac
     1261 ctcagagccc gtcccggagc ccgccccaaa catgaccacc ctggagccca ctccaagccc
     1321 gaccacccca gagcccacct cagagcccgc ccccagcccg accaccccgg agcccacctc
     1381 agagcccgcc cccagcccga ccaccccaga gcccacctca gagcccgccc ccagcccgac
     1441 caccccggag cccaccccaa tcccgaccat cgccacaagc ccgaccatcc tggtgtctgc
     1501 cacaagcctg atcactccaa aaagcacatt tttaactacc acaaaacccg tatcactctt
     1561 agaatccacc aaaaaaacca tccctgaact tgatcagcca ccaaagctcc gtggggtgct
     1621 ccaagggcat ttggagagct ccagaaatga cccttttctc caccccgact tttgctgcct
     1681 cctccccctg ggcttctatg tcttgggtct cttctggctg ctctttgcct ctgtggtcct
     1741 catcctgctg ctgagctggg ttgggcatgt gaaaccacag gccctggact ctggccaagg
     1801 tgctgctctg accacagcca cacaaaccac acacctggag ctgcagaggg gacggcaagt
     1861 gacagtgccc cgggcctggc tgctcttcct tcgaggttcg cttcccactt tccgctccag
     1921 cctcttcctg tgggtacggc ctaatggccg tgtggggcct ctagtggcag gaaggaggcc
     1981 ctcagctctg agtcagggtc gtggtcagga cctgctgagc acagtgagca ttaggtactc
     2041 tggccacagc ctctgagggt gggaggtttg gggaccttga gagaagagcc tgtgggctct
     2101 cctattggaa tctagttggg ggttggaggg gtaaggaaca cagggtgata gggaggggtc
     2161 ttagttcctt tttctgtatc agaagccctg tcttcacaac acaggcacac aatttcagtc
     2221 ccagccaaag cagaaggggt aatgacatgg acttggcggg gggacaagac aaagctcccg
     2281 atgctgcatg gggcgctgcc agatctcacg gtgaaccatt ttggcagaat acagcatggt
     2341 tcccacatgc atctatgcac agaagaaaat ctggaaagtg atttatcagg atgtgagcac
     2401 tcgttgtgtc tggatgttac aaatatgggt ggttttattt tctttttccc tgtttagcat
     2461 tttctagttt tccactatta ttgtatatta tctgtataat aaaaaataat tttagggttg
     2521 ggaaaaaaaa aaaaaaaaaa aaaa
//
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