GP1BA (glycoprotein Ib platelet subunit alpha)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2811
Gene name Gene Name - the full gene name approved by the HGNC.
Glycoprotein Ib platelet subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GP1BA
Synonyms (NCBI Gene) Gene synonyms aliases
BDPLT1, BDPLT3, BSS, CD42B, CD42b-alpha, DBPLT3, GP1B, GPIbA, GPIbalpha, VWDP
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
Summary Summary of gene provided in NCBI Entrez 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 com
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
SNP ID Visualize variation Clinical significance Consequence
rs6065 C>T Drug-response, benign Coding sequence variant, missense variant
rs121908061 G>A Pathogenic Coding sequence variant, stop gained
rs121908062 G>T Pathogenic Coding sequence variant, missense variant
rs121908063 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs121908064 A>G Pathogenic, likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
miRTarBase ID miRNA Experiments Reference
MIRT732376 hsa-miR-10b-5p Luciferase reporter assay, qRT-PCR 27834869
MIRT732377 hsa-miR-10a-5p Luciferase reporter assay, qRT-PCR 27834869
MIRT732376 hsa-miR-10b-5p Luciferase reporter assay, qRT-PCR 27834869
MIRT732377 hsa-miR-10a-5p Luciferase reporter assay, qRT-PCR 27834869
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
RUNX1 Activation 17725493
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0005515 Function Protein binding IPI 7721887, 12183630, 12855810, 15039442, 18674540, 18789323, 19828450, 25666618
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 15297306
GO:0005886 Component Plasma membrane TAS 3353370, 10429193
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606672 4439 ENSG00000185245
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P07359
Protein name Platelet glycoprotein Ib alpha chain (GP-Ib alpha) (GPIb-alpha) (GPIbA) (Glycoprotein Ibalpha) (Antigen CD42b-alpha) (CD antigen CD42b) [Cleaved into: Glycocalicin]
Protein 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.
PDB 1GWB , 1M0Z , 1M10 , 1OOK , 1P8V , 1P9A , 1QYY , 1SQ0 , 1U0N , 2BP3 , 3P72 , 3PMH , 4C2A , 4C2B , 4CH2 , 4CH8 , 4MGX , 4YR6 , 6XFQ , 8WE2 , 8WF6 , 8WFS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01462 LRRNT 19 → 46 Leucine rich repeat N-terminal domain Family
PF13855 LRR_8 116 → 174 Leucine rich repeat Repeat
PF13855 LRR_8 164 → 222 Leucine rich repeat Repeat
Sequence 
MPLLLLLLLLPSPLHPHPICEVSKVASHLEVNCDKRNLTALPPDLPKDTTILHLSENLLY
TFSLATLMPYTRLTQLNLDRCELTKLQVDGTLPVLGTLDLSHNQLQSLPLLGQTLPALTV
LDVSFNRLTSLPLGALRGLGELQELYLKGNELKTLPPGLLTPTPKLEKLSLANNNLTELP
AGLLNGLENLDTLLLQENSLYTIPKGFFGSHLLPFAFLHGNPWLCNCEILYFRRWLQDNA
ENVYVWKQGVDVKAMTSNVASVQCDNSDKFPVYKYPGKGCPTLGDEGDTDLYDYYPEEDT
EGDKVRATRTVVKFPTKAHTTPWGLFYSWSTASLDSQMPSSLHPTQESTKEQTTFPPRWT
PNFTLHMESITFSKTPKSTTEPTPSPTTSEPVPEPAPNMTTLEPTPSPTTPEPTSEPAPS
PTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTPIPTIATSPTILVSATSLITPKSTFLT
TTKPVSLLESTKKTIPELDQPPKLRGVLQGHLESSRNDPFLHPDFCCLLPLGFYVLGLFW
LLFASVVLILLLSWVGHVKPQALDSGQGAALTTATQTTHLELQRGRQVTVPRAWLLFLRG
SLPTFRSSLFLWVRPNGRVGPLVAGRRPSALSQGRGQDLLSTVSIRYSGHSL
Sequence length 652
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  ECM-receptor interaction
Platelet activation
Neutrophil extracellular trap formation
Hematopoietic cell lineage 		  Intrinsic Pathway of Fibrin Clot Formation
GP1b-IX-V activation signalling
Platelet Adhesion to exposed collagen
Platelet Aggregation (Plug Formation)
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
bernard soulier syndrome Bernard Soulier syndrome rs1394634674, rs1555549041, rs763978422 N/A
Bernard Soulier Syndrome bernard-soulier syndrome, type a1, bernard-soulier syndrome, type a2, autosomal dominant rs121908065, rs267606849, rs1394634674, rs1597638745, rs121908061, rs763978422, rs121908063, rs1597638598 N/A
Macrothrombocytopenia macrothrombocytopenia rs1597638745, rs1597638300, rs121908063, rs1597638379 N/A
thrombocytopenia Thrombocytopenia rs1597638681, rs1597638745, rs1597638753, rs1597639057, rs1597638598, rs121908064 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (101)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 11583876
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Associate 27304079
Alzheimer Disease Associate 33942972
Anemia Aplastic Inhibit 22315490
Anemia Sickle Cell Associate 27936141
Angina Unstable Stimulate 15346842
Angina Unstable Associate 17105818
Arthritis Juvenile Associate 33079445
Atherosclerosis Associate 14530377
Autoimmune Diseases Associate 33079445, 34462261