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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 ... See more...
Aliases for GP1BA Gene
Aliases for GP1BA Gene
- Glycoprotein Ib Platelet Subunit Alpha 2 3 5
- Platelet Glycoprotein Ib Alpha Chain 2 3 4
- Glycoprotein Ib (Platelet), Alpha Polypeptide 2 3
- Antigen CD42b-Alpha 3 4
- GP-Ib Alpha 3 4
- GPIbA 3 4
- Platelet Membrane Glycoprotein 1b-Alpha Subunit 3
- Mutant Platelet Membrane Glycoprotein Ib-Alpha 3
- Platelet Membrane Glycoprotein Ib-Alpha 3
- Glycoprotein Ib Platelet Alpha Subunit 3
- Glycoprotein Ibalpha 4
External Ids for GP1BA Gene
- HGNC: 4439
- Entrez Gene: 2811
- Ensembl: ENSG00000185245
- OMIM: 606672
- UniProtKB: P07359
Previous HGNC Symbols for GP1BA Gene
- GP1B
Previous GeneCards Identifiers for GP1BA Gene
- GC17P005255
- GC17P005173
- GC17P004780
- GC17P005036
- GC17P004776
- GC17P004835
Summaries for GP1BA Gene
-
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]
GeneCards Summary for GP1BA Gene
GP1BA (Glycoprotein Ib Platelet Subunit Alpha) is a Protein Coding gene. Diseases associated with GP1BA include Pseudo-Von Willebrand Disease and Bernard-Soulier Syndrome, Type A2, Autosomal Dominant. Among its related pathways are Hematopoietic cell lineage and Formation of Fibrin Clot (Clotting Cascade). Gene Ontology (GO) annotations related to this gene include thrombin-activated receptor activity. An important paralog of this gene is FLRT2.
UniProtKB/Swiss-Prot Summary for GP1BA Gene
-
GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium.
Additional gene information for GP1BA Gene
- Monarch Initiative
- Search for GP1BA at DataMed
- Search for GP1BA at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GP1BA Gene
Genomics for GP1BA Gene
GeneHancer (GH) Regulatory Elements for GP1BA Gene
Promoters and enhancers for GP1BA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GP1BA on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GP1BA
- Top Transcription factor binding sites by QIAGEN in the GP1BA gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- NF-kappaB1
Genomic Locations for GP1BA Gene
Genomic Locations for GP1BA Gene
- chr17:4,932,275-4,935,030
- (GRCh38/hg38)
- Size:
- 2,756 bases
- Orientation:
- Plus strand
- chr17:4,835,592-4,838,325
- (GRCh37/hg19)
- Size:
- 2,734 bases
- Orientation:
- Plus strand
Genomic View for GP1BA Gene
Genes around GP1BA on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17p13.2 by HGNC
- 17p13.2 by Entrez Gene
- 17p13.2 by Ensembl
GP1BA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GP1BA Gene
Proteins for GP1BA Gene
-
Protein details for GP1BA Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P07359-GP1BA_HUMAN
- Recommended name:
- Platelet glycoprotein Ib alpha chain
- Protein Accession:
- P07359
- E7ES66
- Q14441
- Q16469
- Q8N1F3
- Q8NG39
- Q9HDC7
- Q9UEK1
- Q9UQS4
Protein attributes for GP1BA Gene
- Size:
- 652 amino acids
- Molecular mass:
- 71540 Da
- Quaternary structure:
-
- Two GP-Ib beta are disulfide-linked to one GP-Ib alpha. GP-IX is complexed with the GP-Ib heterodimer via a non covalent linkage (PubMed:17008541, PubMed:2070794). Interacts with FLNB (PubMed:9651345). Interacts with FLNA (via filamin repeats 4, 9, 12, 17, 19, 21, and 23) (PubMed:19828450).
- (Microbial infection) Interacts with Staphylococcus aureus protein SSL5.
- Miscellaneous:
-
- Platelet activation apparently involves disruption of the macromolecular complex of GP-Ib with the platelet glycoprotein IX (GP-IX) and dissociation of GP-Ib from the actin-binding protein.
Protein Expression for GP1BA Gene
Post-translational modifications for GP1BA Gene
- Glycocalicin is the product of a proteolytic cleavage/shedding, catalyzed by ADAM17, which releases most of the extracellular domain. Binding sites for vWF and thrombin are in this part of the protein.
-
Glycosylation at Asn37, Asn175, Thr308, and Asn362
- NX_P07359 (NX_P07359-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- GP1BA_HUMAN (176)
Other Protein References for GP1BA Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Miltenyi Biotec B.V. & Co. KG
- Recombinant Anti CD42b Antibody (130-100-208)
- Recombinant Anti CD42b Antibody (130-100-198)
- Recombinant Anti CD42b Antibody (130-100-210)
- Recombinant Anti CD42b Antibody (130-100-202)
- Recombinant Anti CD42b Antibody (130-100-194)
- Recombinant Anti CD42b Antibody (130-100-193)
- Recombinant Anti CD42b Antibody (130-100-201)
- Recombinant Anti CD42b Antibody (130-100-197)
- Recombinant Anti CD42b Antibody (130-100-186)
- Recombinant Anti CD42b Antibody (130-100-235)
- Recombinant Anti CD42b Antibody (130-100-196)
- Recombinant Anti CD42b Antibody (130-100-200)
- Recombinant Anti CD42b Antibody (130-100-199)
- G Biosciences Immunotag™ CD42b Antibody
- Creative Diagnostics Anti-GP1BA monoclonal antibody, clone IJQ2 [CF405M]
- Novus Biologicals Antibodies for GP1BA
-
Abcam antibodies for GP1BA
- Invitrogen Antibodies for GP1BA (AFLGC-GP1BA)
-
Boster Bio Antibodies for GP1BA
-
Santa Cruz Biotechnology (SCBT) Antibodies for GP1BA
Protein Products
-
OriGene Purified Proteins for GP1BA
- Search Origene for MassSpec and Protein Over-expression Lysates for GP1BA
- Origene Custom Protein Services for GP1BA
- Sino Biological Recombinant Proteins for GP1BA
- Sino Biological Cell Lysates for GP1BA
-
Abcam proteins for GP1BA
Assay Products
- RayBiotech Human CD42b/GPIb-alpha ELISA
- Creative Diagnostics Human GP1BA ELISA Matched Antibody Pair
- Aviva Systems Biology GP1BA ELISA Kit (Human) (OKEH01226), GP1BA ELISA Kit (Human) (OKCD07618), and GP1BA ELISA Kit (Human) (OKCD07149)
- Novus Biologicals ELISA Kits for GP1BA
No data available for DME Specific Peptides for GP1BA Gene
Domains & Families for GP1BA Gene
Gene Families for GP1BA Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- CD markers
- Disease related genes
- Plasma proteins
- Predicted membrane proteins
Protein Domains for GP1BA Gene
- Blocks:
-
- Cysteine-rich flanking region, C-terminal
- Leucine-rich repeat signature
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for GP1BA Gene
- GenScript: Design optimal peptide antigens:
-
- Platelet glycoprotein Ib alpha polypeptide (A5CKE2_HUMAN)
- Platelet glycoprotein Ib alpha (E0D851_HUMAN)
- Platelet glycoprotein Ib alpha polypeptide type 2 (E0D852_HUMAN)
- Platelet glycoprotein Ib alpha polypeptide type 3 (E0D853_HUMAN)
- Platelet glycoprotein Ib alpha polypeptide type 4 (E0D854_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GP1BA Gene
Function for GP1BA Gene
Molecular function for GP1BA Gene
- UniProtKB/Swiss-Prot Function:
- GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium.
- GENATLAS Biochemistry:
- platelet glycoprotein Ib,alpha (143kDa),linked to GP1BB through disulfide bonds in von Willebrand receptor
Phenotypes From GWAS Catalog for GP1BA Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI,IEA | 1730602 |
| GO:0015057 | thrombin-activated receptor activity | TAS | 12855810 |
Phenotypes for GP1BA Gene
- MGI mutant phenotypes for GP1BA:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GP1BA:
Animal Models for GP1BA Gene
- MGI Knock Outs for GP1BA:
-
- Gp1ba Gp1ba<tm1Ware>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GP1BA - Select products 50% OFF >
- * GP1BA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * GP1BA CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for GP1BA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GP1BA
- genomics-online: gRNA clones - Search results for available Glycocalicin (GC) gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for GP1BA
miRNA for GP1BA Gene
- miRTarBase miRNAs that target GP1BA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GP1BA
- Browse OriGene Inhibitory RNA Products For GP1BA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GP1BA
- genomics-online: shRNA clones - Search results for available Glycocalicin (GC) gene related products
Clone Products
- Applied Biological Materials (abm): Clones for GP1BA - Select products 50% OFF >
- * GP1BA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * GP1BA tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for GP1BA
- Addgene plasmids for GP1BA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GP1BA
- genomics-online: cdna clones - Search results for available Glycocalicin (GC) gene related products
- orf clones - Search results for available Glycocalicin (GC) gene related products
Cell Line Products
-
Horizon Cell Lines for GP1BA
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GP1BA Gene
Localization for GP1BA Gene
Subcellular locations from UniProtKB/Swiss-Prot for GP1BA Gene
- Membrane; Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 4 |
| cytoskeleton | 3 |
| cytosol | 3 |
| nucleus | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | IBA | 21873635 |
| GO:0005886 | plasma membrane | IDA,TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 3353370 |
| GO:0009986 | cell surface | HDA | 23382103 |
| GO:0016020 | membrane | IEA,IDA | 15297306 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for GP1BA Gene
Pathways & Interactions for GP1BA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Formation of Fibrin Clot (Clotting Cascade) | ||
| 2 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 3 | ECM-receptor interaction | ||
| 4 | Hematopoietic cell lineage | ||
| 5 | Platelet activation | ||
Pathways by source for GP1BA Gene
1 BioSystems pathway for GP1BA Gene
3 KEGG pathways for GP1BA Gene
2 R&D Systems pathways for GP1BA Gene
Interacting Proteins for GP1BA Gene
Selected Interacting proteins:
P07359-GP1BA_HUMAN
ENSP00000329380
for GP1BA Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for GP1BA
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000902 | cell morphogenesis | IEA | -- |
| GO:0007155 | cell adhesion | IDA | 9410473 |
| GO:0007166 | cell surface receptor signaling pathway | TAS | 3353370 |
| GO:0007596 | blood coagulation | IMP,TAS | -- |
| GO:0007597 | blood coagulation, intrinsic pathway | TAS | -- |
Drugs & Compounds for GP1BA Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Aspirin | Approved, Vet_approved | Pharma | Channel blocker | 1440 | ||
| Dexibuprofen | Approved, Investigational | Pharma | Target | 0 | ||
| Ibuprofen | Approved | Pharma | Channel blocker, Inhibition, Inhibitor, Target, inducer | 677 | ||
| Egaptivon pegol | Investigational | Pharma | Target | 0 | ||
| liposomal prostaglandin E1 | Investigational | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for GP1BA Gene
mRNA/cDNA for GP1BA Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000329125 2514 bps (ENST00000329125.6)
- ENST00000611961 2339 bps (ENST00000611961.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GP1BA - Select products 50% OFF >
- * GP1BA CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * GP1BA CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for GP1BA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GP1BA
- genomics-online: gRNA clones - Search results for available Glycocalicin (GC) gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for GP1BA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GP1BA
- Browse OriGene Inhibitory RNA Products For GP1BA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GP1BA
- genomics-online: shRNA clones - Search results for available Glycocalicin (GC) gene related products
Clone Products
- Applied Biological Materials (abm): Clones for GP1BA - Select products 50% OFF >
- * GP1BA as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * GP1BA tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for GP1BA
- Addgene plasmids for GP1BA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GP1BA
- genomics-online: cdna clones - Search results for available Glycocalicin (GC) gene related products
- orf clones - Search results for available Glycocalicin (GC) gene related products
Relevant External Links for GP1BA Gene
- GeneLoc Exon Structure for
- GP1BA
Expression for GP1BA Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Cardiovascular System)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
- Megakaryocytes Hematopoietic Bone Marrow
- Platelets and megakaryocytes like cells(Takayama N et. al. 2012)
- Megakaryocytes-like cells(Salvagiotto G et. al. 2011)
- cord blood
-
Yolk Sac (Extraembryonic Tissues)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
- Umbilical Cord (Extraembryonic Tissues)
-
Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for GP1BA Gene
This gene is overexpressed in Whole Blood (x7.7).
This gene is overexpressed in Platelet (24.0), Serum (19.0), Monocytes (14.6), and Peripheral blood mononuclear cells (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GP1BA Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GP1BA
SOURCE GeneReport for Unigene cluster for GP1BA Gene:
Hs.1472Evidence on tissue expression from TISSUES for GP1BA Gene
- Blood(4.7)
- Heart(4.4)
- Lung(4.1)
- Bone marrow(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GP1BA Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- lymphatic
- reproductive
Regions:
Head and neck:
- face
- head
- mouth
- nose
Abdomen:
- spleen
Pelvis:
- uterus
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- red blood cell
- skin
Primer Products
-
OriGene qPCR primer pairs for GP1BA
-
OriGene qPCR primer pairs and template standards for GP1BA
- genomics-online: primer clones - Search results for available Glycocalicin (GC) gene related products
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GP1BA Gene
Orthologs for GP1BA Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GP1BA 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Gp1ba 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Gp1ba 30 |
|
||
| cow (Bos Taurus) |
Mammalia | GP1BA 31 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | GP1BA 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| zebrafish (Danio rerio) |
Actinopterygii | CU896563.2 31 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.4339 31 |
|
OneToOne |
- Species where no ortholog for GP1BA was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- dog (Canis familiaris)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for GP1BA Gene
- ENSEMBL:
- Gene Tree for GP1BA (if available)
- TreeFam:
- Gene Tree for GP1BA (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GP1BA: view image
Paralogs for GP1BA Gene
Variants for GP1BA Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for GP1BA Gene
- GP1BA_HUMAN-P07359
- Position 161 is associated with platelet-specific alloantigen Siba (PubMed:1586750). Siba(-) has Thr-161 and Siba(+) has Met-161 (PubMed:1586750). Siba is involved in neonatal alloimmune thrombocytopenia (NATP) (PubMed:1586750, PubMed:7632942).
- GP1BA_HUMAN-P07359
- Polymorphisms arise from a variable number of tandem 13-amino acid repeats of S-E-P-A-P-S-P-T-T-P-E-P-T in the mucin-like macroglycopeptide (Pro/Thr-rich) domain (PubMed:1577776, PubMed:7632942). Allele D contains one repeat starting at position 415, allele C contains two repeats, allele B (shown here) contains three repeats and allele A contains four repeats (PubMed:1577776). Allele B is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy (PubMed:1577776).
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GP1BA Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 585094 | Not Provided: Bernard Soulier syndrome; Pseudo von Willebrand disease; Bernard-Soulier syndrome, type A2, autosomal dominant | 4,932,696(+) | T/C | MISSENSE_VARIANT | |
| 626958 | Uncertain Significance: Thrombocytopenia | 4,932,948(+) | T/C | MISSENSE_VARIANT | |
| 627001 | Pathogenic: Macrothrombocytopenia | 4,932,751(+) | AAC/A | FRAMESHIFT_VARIANT | |
| 627016 | Likely Pathogenic: Macrothrombocytopenia | 4,932,775(+) | C/A | MISSENSE_VARIANT | |
| 627031 | Uncertain Significance: Macrothrombocytopenia | 4,932,804(+) | T/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3088n100 | CNV | gain | 25217958 |
| esv2715560 | CNV | deletion | 23290073 |
| esv3572365 | CNV | gain | 25503493 |
| nsv1149679 | CNV | deletion | 26484159 |
| nsv574273 | CNV | gain | 21841781 |
| nsv574275 | CNV | gain | 21841781 |
| nsv819218 | CNV | loss | 19587683 |
| nsv833347 | CNV | loss | 17160897 |
| nsv833349 | CNV | loss | 17160897 |
| nsv833350 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
38.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.92;
67.77% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GP1BA Gene
SNP Genotyping and Copy Number Assay Products
Disorders for GP1BA Gene
(39) MalaCards diseases for GP1BA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pseudo-von willebrand disease |
|
|
| bernard-soulier syndrome, type a2, autosomal dominant |
|
|
| bernard-soulier syndrome |
|
|
| nonarteritic anterior ischemic optic neuropathy |
|
|
| von willebrand's disease |
|
Search GP1BA in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GP1BA_HUMAN- Non-arteritic anterior ischemic optic neuropathy (NAION) [MIM:258660]: An ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage. {ECO:0000269 PubMed:14711733}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
- Bernard-Soulier syndrome (BSS) [MIM:231200]: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. {ECO:0000269 PubMed:10089893, ECO:0000269 PubMed:1730088, ECO:0000269 PubMed:7690774, ECO:0000269 PubMed:7819107, ECO:0000269 PubMed:7873390, ECO:0000269 PubMed:9639514}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) [MIM:153670]: A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery. {ECO:0000269 PubMed:11222377}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Pseudo-von Willebrand disease (VWDP) [MIM:177820]: A bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. {ECO:0000269 PubMed:14521605, ECO:0000269 PubMed:2052556, ECO:0000269 PubMed:8384898, ECO:0000269 PubMed:8486780}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for GP1BA Gene
Bernard-Soulier syndrome;giant platelet syndrome,including Bolzano type,associated in some cases with GP9 and GP5 deficiencies
Additional Disease Information for GP1BA
- Genetic Association Database
- (GAD)
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- (HuGE)
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Publications for GP1BA Gene
- Variable number of tandem repeats polymorphism of platelet glycoprotein Ib alpha in Chinese people and CC genotype with aspirin sensitivity in patients with cerebral infarction. (PMID: 19250145) Jin YY … Xin XM (Journal of clinical pharmacy and therapeutics 2009) 3 23 41 54
- Genetics of platelet reactivity in normal, healthy individuals. (PMID: 19740098) Kunicki TJ … Nugent DJ (Journal of thrombosis and haemostasis : JTH 2009) 3 23 41 54
- Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. (PMID: 14521605) Matsubara Y … Ikeda Y (Journal of thrombosis and haemostasis : JTH 2003) 3 4 23 54
- Tissue factor and platelet glycoprotein Ib-alpha alleles are associated with age at first coronary bypass operation. (PMID: 14639140) Donahue BS … George AL (Anesthesiology 2003) 3 23 41 54
- Molecular modeling of the seven tandem leucine-rich repeats within the ligand-binding region of platelet glycoprotein Ib alpha. (PMID: 11858495) Whisstock JC … Berndt MC (Thrombosis and haemostasis 2002) 3 4 23 54
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