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
//