GP1BA (glycoprotein Ib platelet subunit alpha)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2811
Gene name Glycoprotein Ib platelet subunit alpha
Gene symbol GP1BA
Synonyms (NCBI Gene)
BDPLT1BDPLT3BSSCD42BCD42b-alphaDBPLT3GP1BGPIbAGPIbalphaVWDP
Chromosome 17
Chromosome location 17p13.2
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 com
SNPs SNP information provided by dbSNP.
17
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
4
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 assayqRT-PCR 27834869
MIRT732377 hsa-miR-10a-5p Luciferase reporter assayqRT-PCR 27834869
MIRT732376 hsa-miR-10b-5p Luciferase reporter assayqRT-PCR 27834869
MIRT732377 hsa-miR-10a-5p Luciferase reporter assayqRT-PCR 27834869
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
RUNX1 Activation 17725493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606672 4439 ENSG00000185245
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
194
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (10)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Likely pathogenic; Pathogenic rs1970365829, rs773663190 RCV001270613
RCV001270584
Bernard Soulier syndrome Pathogenic; Likely pathogenic rs781541857, rs2151108738, rs753768072, rs771048666, rs1597640885, rs1375190381, rs759573909, rs2151107940, rs2151107674, rs2507595200, rs774388410, rs121908065, rs267606849, rs2507594247, rs2151107696
View all (5 more)		 RCV002223070
RCV002226812
RCV002227299
RCV002245371
RCV002245372
RCV002245376
RCV002254237
RCV002254238
RCV002264881
RCV002281017
RCV005254693
RCV005016237
RCV005025004
RCV003313869
RCV005254835
RCV005648298
RCV004587990
RCV002222537
RCV000627049
RCV002290599
Bernard-Soulier syndrome, type A1 Pathogenic; Likely pathogenic rs121908061, rs121908065, rs267606849, rs2507593916, rs1394634674 RCV000004367
RCV000004373
RCV000004374
RCV003326184
RCV000500510
Bernard-Soulier syndrome, type A2, autosomal dominant Likely pathogenic; Pathogenic rs2151107705, rs2151107661, rs767224320, rs771048666, rs1597638300, rs759573909, rs121908063, rs121908065, rs267606849, rs2507593310, rs1394634674, rs1597638598, rs1597638745, rs763978422, rs773663190 RCV002222138
RCV002223112
RCV002223116
RCV003313798
RCV002245409
RCV002280915
RCV000004371
RCV000023565
RCV005025004
RCV005015196
RCV002281099
RCV002222624
RCV002245649
RCV002287470
RCV002246268
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CIC-rearranged sarcoma Benign rs770991996 RCV000993819
Show/Hide Text Mining Associations (101)
Associations from Text MiningDisease 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