GP1BB cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	GP1BB
Entrez Gene ID	2812
Full Name	glycoprotein Ib platelet beta subunit
Synonyms	BDPLT1,BS,CD42C,GPIBB,GPIbbeta
General protein information	Preferred Names glycoprotein Ib platelet beta subunit Names platelet glycoprotein Ib beta chain GP-Ib beta antigen CD42b-beta glycoprotein Ib (platelet), beta polypeptide nuclear localization signal deleted in velocardiofacial syndrome platelet membrane glycoprotein Ib beta truncated platelet membrane glycoprotein Ib beta
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 22 Map Location: 22q11.21
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].
Disorder MIM:	138720
Disorder Html:	Bernard-Soulier syndrome, type B, 231200 (3); Giant platelet disorder, isolated, 231200 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_000407.4	NP_000398.1	platelet glycoprotein Ib beta chain precursor
NM_000407.5	NP_000398.1	platelet glycoprotein Ib beta chain precursor

Pathways from BioSystems

Homologies

Homo sapiens (human)	GP1BB	NP_000398.1
Canis lupus familiaris (dog)	GP1BB	XP_005636645.1
Xenopus tropicalis (tropical clawed frog)	gp1bb	XP_002931927.1
	LOC712129	XP_001105321.1
Danio rerio (zebrafish)	gp1bb	NP_001138284.1
Mus musculus (house mouse)	Gp1bb	NP_034457.1
Rattus norvegicus (Norway rat)	Gp1bb	NP_446382.1

Gene Ontology
Bibliography

Related articles in PubMed

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD, , Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E
Blood129(4)520-524(2017 01)

MicroRNAs 10a and 10b Regulate the Expression of Human Platelet Glycoprotein Ib? for Normal Megakaryopoiesis.
Zhang Z, Ran Y, Shaw TS, Peng Y
International journal of molecular sciences17(11)(2016 Nov)

Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ib? in a patient with Bernard-Soulier syndrome.
Qiao J, Davis AK, Morel-Kopp MC, Ward CM, Gardiner EE, Andrews RK
Annals of hematology94(12)2069-71(2015 Dec)

The Transmembrane Domains of ? and IX Subunits Mediate the Localization of the Platelet Glycoprotein Ib-IX Complex to the Glycosphingolipid-enriched Membrane Domain.
Xu G, Shang D, Zhang Z, Shaw TS, Ran Y, L?pez JA, Peng Y
The Journal of biological chemistry290(36)22155-62(2015 Sep)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Title: Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

miR-10a and miR10b regulate the expression of human platelet GP1BA and GP1bb for normal megakaryopoiesis.
Title: MicroRNAs 10a and 10b Regulate the Expression of Human Platelet Glycoprotein Ib? for Normal Megakaryopoiesis.

Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibbeta in a patient with Bernard-Soulier syndrome.
Title: Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ib? in a patient with Bernard-Soulier syndrome.

Data show that localization of the GP Ib-IX complex to the lipid domain is mediated by GP Ibbeta and GP IX transmembrane domains.
Title: The Transmembrane Domains of ? and IX Subunits Mediate the Localization of the Platelet Glycoprotein Ib-IX Complex to the Glycosphingolipid-enriched Membrane Domain.

genetic association study in population in western India: Data suggest novel mutations in platelet glycoprotein Ib (GP1BA, GP1BB) and GP9 are associated with Bernard-Soulier syndrome in subjects studies; of 12 mutations identified, ten were novel.
Title: Novel genetic abnormalities in Bernard-Soulier syndrome in India.

The following GP1BB gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the GP1BB cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu18618	NM_000407.5 Latest version!	Homo sapiens glycoprotein Ib platelet subunit beta (GP1BB), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	9-11	$139.30 $199.00
View Old Accession Versions >>
OHu18618	NM_000407.4	Homo sapiens glycoprotein Ib platelet subunit beta (GP1BB), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	TBD	$69.30 $99.00
Hide Old Accession Versions >>

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

GP1BB ( NM_000407.5 ) cDNA ORF clone, Homo sapiens(human) -> NP_000398.1 Homo sapiens glycoprotein Ib platelet subunit beta (GP1BB), mRNA.

Price & Availability↑

CloneID	OHu18618
Clone ID Related Accession (Same CDS sequence)	NM_000407.4 , NM_000407.5
Accession Version	NM_000407.5 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 621bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-09-30
Organism	Homo sapiens(human)
Product	platelet glycoprotein Ib beta chain precursor
Comment	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. 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, BI599152.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGGCTCCG GGCCGCGCGG GGCGCTGAGC TTACTGCTCC TGCTGCTGGC CCCGCCGAGC 
CGCCCGGCCG CAGGTTGCCC GGCGCCCTGT AGCTGCGCGG GGACGCTCGT GGACTGCGGG 
CGCCGCGGGC TGACTTGGGC CTCGCTGCCG ACCGCCTTCC CTGTCGACAC AACCGAGCTG 
GTGCTGACCG GCAACAACCT GACGGCGCTG CCGCCGGGGC TGCTGGACGC GCTGCCCGCG 
CTGCGCACCG CACACCTGGG CGCCAACCCC TGGCGCTGCG ACTGCCGCCT TGTGCCGCTG 
CGCGCCTGGC TGGCCGGCCG CCCCGAGCGT GCGCCCTACC GCGACCTGCG TTGCGTGGCG 
CCCCCAGCGC TGCGCGGCCG CCTGCTGCCC TATCTGGCCG AGGACGAGCT GCGCGCCGCT 
TGCGCTCCCG GCCCGCTCTG CTGGGGGGCG CTGGCGGCGC AGCTTGCGCT GCTGGGCCTT 
GGGCTGCTGC ACGCGTTGCT GCTGGTGCTG CTGCTGTGCC GCCTGCGGAG GCTGCGGGCC 
CGGGCCCGCG CTCGCGCCGC AGCCCGGCTG TCGCTGACCG ACCCGCTGGT GGCCGAGCGA 
GCCGGAACCG ACGAGTCCTG A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_000398.1
CDS	32..652
Translation	MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLTWASLPTAFPVDTTELVLTGNNLTALPPGLLDALPALRTAHLGANPWRCDCRLVPLRAWLAGRPERAPYRDLRCVAPPALRGRLLPYLAEDELRAACAPGPLCWGALAAQLALLGLGLLHALLLVLLLCRLRRLRARARARAAARLSLTDPLVAERAGTDES

Target ORF information:

RefSeq Version	NM_000407.5
Organism	Homo sapiens(human)
Definition	Homo sapiens glycoprotein Ib platelet subunit beta (GP1BB), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000407.5

ORF Insert Sequence:

ATGGGCTCCG GGCCGCGCGG GGCGCTGAGC TTACTGCTCC TGCTGCTGGC CCCGCCGAGC 
CGCCCGGCCG CAGGTTGCCC GGCGCCCTGT AGCTGCGCGG GGACGCTCGT GGACTGCGGG 
CGCCGCGGGC TGACTTGGGC CTCGCTGCCG ACCGCCTTCC CTGTCGACAC AACCGAGCTG 
GTGCTGACCG GCAACAACCT GACGGCGCTG CCGCCGGGGC TGCTGGACGC GCTGCCCGCG 
CTGCGCACCG CACACCTGGG CGCCAACCCC TGGCGCTGCG ACTGCCGCCT TGTGCCGCTG 
CGCGCCTGGC TGGCCGGCCG CCCCGAGCGT GCGCCCTACC GCGACCTGCG TTGCGTGGCG 
CCCCCAGCGC TGCGCGGCCG CCTGCTGCCC TATCTGGCCG AGGACGAGCT GCGCGCCGCT 
TGCGCTCCCG GCCCGCTCTG CTGGGGGGCG CTGGCGGCGC AGCTTGCGCT GCTGGGCCTT 
GGGCTGCTGC ACGCGTTGCT GCTGGTGCTG CTGCTGTGCC GCCTGCGGAG GCTGCGGGCC 
CGGGCCCGCG CTCGCGCCGC AGCCCGGCTG TCGCTGACCG ACCCGCTGGT GGCCGAGCGA 
GCCGGAACCG ACGAGTCCTG A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

GP1BB ( NM_000407.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_000398.1 Homo sapiens glycoprotein Ib platelet subunit beta (GP1BB), mRNA.

Price & Availability↑

CloneID	OHu18618
Clone ID Related Accession (Same CDS sequence)	NM_000407.4 , NM_000407.5
Accession Version	NM_000407.4	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 621bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-05-03
Organism	Homo sapiens(human)
Product	platelet glycoprotein Ib beta chain precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC000093.5. On Mar 22, 2006 this sequence version replaced NM_000407.3. 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, BI599152.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGGCTCCG GGCCGCGCGG GGCGCTGAGC TTACTGCTCC TGCTGCTGGC CCCGCCGAGC 
CGCCCGGCCG CAGGTTGCCC GGCGCCCTGT AGCTGCGCGG GGACGCTCGT GGACTGCGGG 
CGCCGCGGGC TGACTTGGGC CTCGCTGCCG ACCGCCTTCC CTGTCGACAC AACCGAGCTG 
GTGCTGACCG GCAACAACCT GACGGCGCTG CCGCCGGGGC TGCTGGACGC GCTGCCCGCG 
CTGCGCACCG CACACCTGGG CGCCAACCCC TGGCGCTGCG ACTGCCGCCT TGTGCCGCTG 
CGCGCCTGGC TGGCCGGCCG CCCCGAGCGT GCGCCCTACC GCGACCTGCG TTGCGTGGCG 
CCCCCAGCGC TGCGCGGCCG CCTGCTGCCC TATCTGGCCG AGGACGAGCT GCGCGCCGCT 
TGCGCTCCCG GCCCGCTCTG CTGGGGGGCG CTGGCGGCGC AGCTTGCGCT GCTGGGCCTT 
GGGCTGCTGC ACGCGTTGCT GCTGGTGCTG CTGCTGTGCC GCCTGCGGAG GCTGCGGGCC 
CGGGCCCGCG CTCGCGCCGC AGCCCGGCTG TCGCTGACCG ACCCGCTGGT GGCCGAGCGA 
GCCGGAACCG ACGAGTCCTG A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_000398.1
CDS	28..648
Translation	MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLTWASLPTAFPVDTTELVLTGNNLTALPPGLLDALPALRTAHLGANPWRCDCRLVPLRAWLAGRPERAPYRDLRCVAPPALRGRLLPYLAEDELRAACAPGPLCWGALAAQLALLGLGLLHALLLVLLLCRLRRLRARARARAAARLSLTDPLVAERAGTDES

Target ORF information:

RefSeq Version	NM_000407.4
Organism	Homo sapiens(human)
Definition	Homo sapiens glycoprotein Ib platelet subunit beta (GP1BB), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000407.4

ORF Insert Sequence:

ATGGGCTCCG GGCCGCGCGG GGCGCTGAGC TTACTGCTCC TGCTGCTGGC CCCGCCGAGC 
CGCCCGGCCG CAGGTTGCCC GGCGCCCTGT AGCTGCGCGG GGACGCTCGT GGACTGCGGG 
CGCCGCGGGC TGACTTGGGC CTCGCTGCCG ACCGCCTTCC CTGTCGACAC AACCGAGCTG 
GTGCTGACCG GCAACAACCT GACGGCGCTG CCGCCGGGGC TGCTGGACGC GCTGCCCGCG 
CTGCGCACCG CACACCTGGG CGCCAACCCC TGGCGCTGCG ACTGCCGCCT TGTGCCGCTG 
CGCGCCTGGC TGGCCGGCCG CCCCGAGCGT GCGCCCTACC GCGACCTGCG TTGCGTGGCG 
CCCCCAGCGC TGCGCGGCCG CCTGCTGCCC TATCTGGCCG AGGACGAGCT GCGCGCCGCT 
TGCGCTCCCG GCCCGCTCTG CTGGGGGGCG CTGGCGGCGC AGCTTGCGCT GCTGGGCCTT 
GGGCTGCTGC ACGCGTTGCT GCTGGTGCTG CTGCTGTGCC GCCTGCGGAG GCTGCGGGCC 
CGGGCCCGCG CTCGCGCCGC AGCCCGGCTG TCGCTGACCG ACCCGCTGGT GGCCGAGCGA 
GCCGGAACCG ACGAGTCCTG A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Blood129(4)520-524(2017 01)
Sivapalaratnam S,Westbury SK,Stephens JC,Greene D,Downes K,Kelly AM,Lentaigne C,Astle WJ,Huizinga EG,Nurden P,Papadia S,Peerlinck K,Penkett CJ,Perry DJ,Roughley C,Simeoni I,Stirrups K,Hart DP,Tait RC,Mumford AD,,Laffan MA,Freson K,Ouwehand WH,Kunishima S,Turro E

MicroRNAs 10a and 10b Regulate the Expression of Human Platelet Glycoprotein Ib? for Normal Megakaryopoiesis.
International journal of molecular sciences17(11)(2016 Nov)
Zhang Z,Ran Y,Shaw TS,Peng Y

Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ib? in a patient with Bernard-Soulier syndrome.
Annals of hematology94(12)2069-71(2015 Dec)
Qiao J,Davis AK,Morel-Kopp MC,Ward CM,Gardiner EE,Andrews RK

The Transmembrane Domains of ? and IX Subunits Mediate the Localization of the Platelet Glycoprotein Ib-IX Complex to the Glycosphingolipid-enriched Membrane Domain.
The Journal of biological chemistry290(36)22155-62(2015 Sep)
Xu G,Shang D,Zhang Z,Shaw TS,Ran Y,L?pez JA,Peng Y

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GP1BB cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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