Gp1ba glycoprotein 1b, alpha polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gp1baprovided by MGI
Official Full Name: glycoprotein 1b, alpha polypeptideprovided by MGI
Primary source: MGI:MGI:1333744
See related: Ensembl:ENSMUSG00000050675 AllianceGenome:MGI:1333744
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: GPIba; GPIbalpha; GP-Ib alpha
Summary: Acts upstream of or within blood coagulation and cell morphogenesis. Colocalizes with anchored component of external side of plasma membrane. Is expressed in dorsal root ganglion; embryo; liver; and spinal cord. Used to study Bernard-Soulier syndrome. Human ortholog(s) of this gene implicated in Bernard-Soulier syndrome; Bernard-Soulier syndrome type A2; myocardial infarction; non-arteritic anterior ischemic optic neuropathy; and platelet-type bleeding disorder 3. Orthologous to human GP1BA (glycoprotein Ib platelet subunit alpha). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in spleen adult (RPKM 3.9), liver E14.5 (RPKM 3.1) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B3; 11 43.2 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (70529928..70534812)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (70639102..70643986)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Synergic effect of GPIBA and von Willebrand factor in pathogenesis of deep vein thrombosis.
Title: Synergic effect of GPIBA and von Willebrand factor in pathogenesis of deep vein thrombosis.
Mouse platelets lacking the extracellular domain of GPIbalpha and human platelets treated with GPIbalpha-blocking antibodies display a reduced aggregation response to synthetic glycopolymers. We found that synthetic sulfated glycopolymers bind directly to GPIbalpha, substantiating that GPIbalpha facilitates the interaction of synthetic glycopolymers with CLEC-2 or PEAR1.
Title: Synthetic glycopolymers and natural fucoidans cause human platelet aggregation via PEAR1 and GPIbα.
Platelet protein disulfide isomerase-facilitated cleavage of the allosteric disulfide bonds tightly regulates GPIbalpha function, promoting platelet-neutrophil interactions, vascular occlusion, and tissue damage under thromboinflammatory conditions.
Title: Platelet Protein Disulfide Isomerase Promotes Glycoprotein Ibα-Mediated Platelet-Neutrophil Interactions Under Thromboinflammatory Conditions.
A 2- to 3-fold decrease occurred in circulating TPO in GPIbalpha(-/-) mice compared with wild-type. Lower TPO levels in GPIbalpha-/- mice are due to impaired platelet-stimulated hepatic TPO production. The N terminus of GPIbalpha is required for platelet-mediated hepatic TPO generation.
Title: GPIbα is required for platelet-mediated hepatic thrombopoietin generation.
leukocyte Mac-1 and platelet GPIbalpha are involved in thrombosis
Title: Leukocyte integrin Mac-1 regulates thrombosis via interaction with platelet GPIbα.
GPIbbeta has a repressor function in thrombus formation
Title: Lentiviral gene rescue of a Bernard-Soulier mouse model to study platelet glycoprotein Ibβ function.
this study shows that atheroma formation is inhibited in GPIba-deficient mice on atherosclerosis-prone background
Title: Defective Association of the Platelet Glycoprotein Ib-IX Complex with the Glycosphingolipid-Enriched Membrane Domain Inhibits Murine Thrombus and Atheroma Formation.
allosteric inhibitor SbO4L targets the glycoprotein Ibalpha-binding and heparin-binding site of thrombin
Title: Allosterism-based simultaneous, dual anticoagulant and antiplatelet action: allosteric inhibitor targeting the glycoprotein Ibα-binding and heparin-binding site of thrombin.
Thrombin cleavage of platelet PAR4 promotes leukocyte recruitment to sites of vascular injury. This process is negatively regulated by GPIbalpha.
Title: Thrombin-dependent intravascular leukocyte trafficking regulated by fibrin and the platelet receptors GPIb and PAR4.
GPIbalpha-mediated interactions between platelets and endothelial cells, as well as leukocytes, support innate immune cell recruitment and promote arteriogenesis-establishing platelets as critical players in this process.
Title: Critical role of platelet glycoprotein ibα in arterial remodeling.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in blood coagulation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within blood coagulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood coagulation	ISO Inferred from Sequence Orthology more info
involved_in blood coagulation, intrinsic pathway	ISO Inferred from Sequence Orthology more info
involved_in blood coagulation, intrinsic pathway	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within cell adhesion	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fibrinolysis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hemostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in megakaryocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in megakaryocyte development	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of leukocyte tethering or rolling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of platelet activation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of platelet activation	NAS Non-traceable Author Statement more info	PubMed
involved_in release of sequestered calcium ion into cytosol	ISO Inferred from Sequence Orthology more info
involved_in release of sequestered calcium ion into cytosol	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with external side of plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
part_of glycoprotein Ib-IX-V complex	ISO Inferred from Sequence Orthology more info
part_of glycoprotein Ib-IX-V complex	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: platelet glycoprotein Ib alpha chain

Names: glycoprotein Ibalpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010326.3 → NP_034456.2 platelet glycoprotein Ib alpha chain precursor

See identical proteins and their annotated locations for NP_034456.2

Status: VALIDATED

Source sequence(s)

AL596117

Consensus CDS

CCDS24957.1

UniProtKB/Swiss-Prot

O35930, Q5SX47

UniProtKB/TrEMBL

A2CFB8

Related

ENSMUSP00000057563.7, ENSMUST00000055184.7

Conserved Domains (4) summary

smart00082
Location:221 → 281

LRRCT; Leucine rich repeat C-terminal domain

COG4886
Location:28 → 204

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00033
Location:28 → 47

LRR_RI; leucine-rich repeat [structural motif]

pfam17823
Location:257 → 539

DUF5585; Family of unknown function (DUF5585)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

70529928..70534812

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532232.4 → XP_006532295.1 platelet glycoprotein Ib alpha chain isoform X1

See identical proteins and their annotated locations for XP_006532295.1

UniProtKB/Swiss-Prot

O35930, Q5SX47

UniProtKB/TrEMBL

A2CFB8

Related

ENSMUSP00000104191.3, ENSMUST00000108551.3

Conserved Domains (4) summary

smart00082
Location:221 → 281

LRRCT; Leucine rich repeat C-terminal domain

COG4886
Location:28 → 204

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00033
Location:28 → 47

LRR_RI; leucine-rich repeat [structural motif]

pfam17823
Location:257 → 539

DUF5585; Family of unknown function (DUF5585)