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GP1BA (glycoprotein Ib platelet subunit alpha)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2811
Gene nameGene Name - the full gene name approved by the HGNC.
Glycoprotein Ib platelet subunit alpha
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GP1BA
SynonymsGene synonyms aliases
BDPLT1, BDPLT3, BSS, CD42B, CD42b-alpha, DBPLT3, GP1B, GPIbA, GPIbalpha, VWDP
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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
Transcription factor Regulation Reference
RUNX1 Activation 17725493
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0005515 Function Protein binding IPI 1730602, 7721887, 12183630, 12855810, 15039442, 18674540, 18789323, 19828450, 25666618, 29187380
GO:0005615 Component Extracellular space IBA 21873635
GO:0005886 Component Plasma membrane IDA 15297306
GO:0005886 Component Plasma membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
LDVSFNRLTSLPLGALRGLGELQELYLKGNELKTLPPGLLTPT
PKLEKLSLANNNLTELP
AGLLNGLENLDTLLLQENSLYTIPKGFFGSHLLPFAFLHGNP
WLCNCEILYFRRWLQDNA
ENVYVWKQGVDVKAMTSNVASVQCDNSDKFPVYKYPGKGCPTLGDEGDTDLYDYYPEEDT
EGDKVRATRTVVKFPTKAHTTPWGLFYSWSTASLDSQMPSSLHPTQESTKEQTTFPPRWT
PNFTLHMESITFSKTPKSTTEPTPSPTTSEPVPEPAPNMTTLEPTPSPTTPEPTSEPAPS
PTTPEPTSEPAPSPTTPEPTSEPAPSPTTPEPTPIPTIATSPTILVSATSLITPKSTFLT
TTKPVSLLESTKKTIPELDQPPKLRGVLQGHLESSRNDPFLHPDFCCLLPLGFYVLGLFW
LLFASVVLILLLSWVGHVKPQALDSGQGAALTTATQTTHLELQRGRQVTVPRAWLLFLRG
SLPTFRSSLFLWVRPNGRVGPLVAGRRPSALSQGRGQDLLSTVSIRYSGHSL
Sequence length 652
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Alloimmune thrombocytopenia Fetal and neonatal alloimmune thrombocytopenia, Neonatal Alloimmune Thrombocytopenia rs1555572829
Anemia Anemia, Hemolytic, stomatocytic anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
Barber say syndrome Barber Say syndrome rs1553565143, rs1553565140, rs869320750 21357716
Unknown
Disease name Disease term dbSNP ID References
Deficiency of platelet glycoprotein 1b Deficiency of Platelet Glycoprotein 1b
Fetal and neonatal alloimmune thrombocytopenia FNAITP
Hematomas Spontaneous hematomas
Nonarteritic anterior ischemic optic neuropathy Nonarteritic anterior ischemic optic neuropathy (NAION)

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