GP1BA (glycoprotein Ib platelet subunit alpha)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2811 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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GP1BA |
SynonymsGene synonyms aliases
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BDPLT1, BDPLT3, BSS, CD42B, CD42b-alpha, DBPLT3, GP1B, GPIbA, GPIbalpha, VWDP |
ChromosomeChromosome number
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17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17p13.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 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 |
rs121908065 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs267606849 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs371226354 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1394634674 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |
rs1555549041 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1597638300 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1597638379 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1597638398 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1597638681 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1597638745 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1597638753 |
->C |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1597639057 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Transcription factor |
Regulation |
Reference |
RUNX1 |
Activation |
17725493 |
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000902 |
Process |
Cell morphogenesis |
IEA |
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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 |
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GO:0005887 |
Component |
Integral component of plasma membrane |
TAS |
3353370 |
GO:0007155 |
Process |
Cell adhesion |
IDA |
9410473 |
GO:0007166 |
Process |
Cell surface receptor signaling pathway |
TAS |
3353370 |
GO:0007596 |
Process |
Blood coagulation |
IMP |
21037087 |
GO:0007596 |
Process |
Blood coagulation |
TAS |
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GO:0007597 |
Process |
Blood coagulation, intrinsic pathway |
TAS |
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GO:0009986 |
Component |
Cell surface |
HDA |
23382103 |
GO:0015057 |
Function |
Thrombin-activated receptor activity |
TAS |
12855810 |
GO:0016020 |
Component |
Membrane |
IDA |
15297306 |
GO:0030168 |
Process |
Platelet activation |
TAS |
12855810 |
GO:0030193 |
Process |
Regulation of blood coagulation |
TAS |
12855810 |
GO:0031012 |
Component |
Extracellular matrix |
IBA |
21873635 |
GO:0031362 |
Component |
Anchored component of external side of plasma membrane |
IBA |
21873635 |
GO:0031362 |
Component |
Anchored component of external side of plasma membrane |
IDA |
19443707 |
GO:0042730 |
Process |
Fibrinolysis |
IDA |
12855810 |
GO:0045652 |
Process |
Regulation of megakaryocyte differentiation |
TAS |
|
GO:0070062 |
Component |
Extracellular exosome |
HDA |
23533145 |
GO:0070493 |
Process |
Thrombin-activated receptor signaling pathway |
IEA |
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GO:0070527 |
Process |
Platelet aggregation |
IBA |
21873635 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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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 |
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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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Alloimmune thrombocytopenia |
Fetal and neonatal alloimmune thrombocytopenia, Neonatal Alloimmune Thrombocytopenia |
rs1555572829 |
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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 |
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Asthma |
Asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
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Barber say syndrome |
Barber Say syndrome |
rs1553565143, rs1553565140, rs869320750 |
21357716 |
Bernard soulier syndrome |
Bernard-Soulier Syndrome, BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT, BERNARD-SOULIER SYNDROME, TYPE A1 |
rs121908061, rs121908063, rs121908065, rs267606849, rs5030764, rs121918036, rs121918037, rs28933377, rs28933378, rs121909750, rs121909752, rs730882059, rs587783648, rs1394634674, rs1555549041, rs1297298519, rs1597638598, rs1597638745, rs1601248210, rs1601248889, rs1360071443, rs1601249021, rs763978422 |
9639514, 7873390, 7819107, 7690774, 2308962, 22886561, 1730088, 10089893, 21357716, 11222377 |
Brooke-spiegler syndrome |
Brooke-Spiegler syndrome |
rs121908388, rs1597088499, rs121908389, rs121908390, rs1597052041, rs886040870, rs886040874, rs886040875, rs886040884, rs886040885, rs886040888 |
21357716 |
Cerebral palsy |
Cerebral Palsy |
rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513 |
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Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
22352330 |
Macrothrombocytopenia |
Macrothrombocytopenia |
rs121908063, rs5030764, rs121918037, rs80338835, rs80338834, rs80338829, rs121913655, rs80338831, rs121913656, rs80338826, rs80338828, rs587776808, rs80338827, rs121913657, rs876661302, rs2146392848, rs121909750, rs121909751, rs121909752, rs80338830, rs387907345, rs387907348, rs387907350, rs797044804, rs1057517996, rs1321659356, rs1184544985, rs1603484047, rs1603484048, rs1297298519, rs1594756590, rs747559032, rs1598377980, rs1597638300, rs1597638379, rs1597638745, rs1601239696, rs1601248210, rs1601248859, rs1360071443, rs1254692009, rs1598700249, rs1601238563, rs1601247763, rs1601248245, rs1601248530, rs770554119 |
31064749 |
Migraine |
Migraine Disorders |
rs794727411 |
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Von willebrand disorder |
Von Willebrand disease, platelet type |
rs61750584, rs61750117, rs61750579, rs61749392, rs61749384, rs61749387, rs61749397, rs61749403, rs61748477, rs121964894, rs41276738, rs61750595, rs61750612, rs61751296, rs61749398, rs61749372, rs61749393, rs62643632, rs121964895, rs61748511, rs61750630, rs61754010, rs121908062, rs121908064, rs267607326, rs61748467, rs61753984, rs61754003, rs62643625, rs267607305, rs61754009, rs61748460, rs267607309, rs61748463, rs61748464, rs62643619, rs62643628, rs61748465, rs61748466, rs61748480, rs61748481, rs61748482, rs61753988, rs267607312, rs61748496, rs267607314, rs267607316, rs267607321, rs2363337, rs267607324, rs267607328, rs267607332, rs61749364, rs61749366, rs61749371, rs61749375, rs61749377, rs61749379, rs267607334, rs267607335, rs61749385, rs61749386, rs61749389, rs61749390, rs267607337, rs61749394, rs61749395, rs61749396, rs61749400, rs61749402, rs61749405, rs61749407, rs61749408, rs61750069, rs61750071, rs61750072, rs61750074, rs61750077, rs61753992, rs61750078, rs61750081, rs61750083, rs61750084, rs61753994, rs61750100, rs61750103, rs267607340, rs267607343, rs267607344, rs267607345, rs61750110, rs267607349, rs61750577, rs61750596, rs267607352, rs61750605, rs267607301, rs61750606, rs267607355, rs61750614, rs62643623, rs61750620, rs62643624, rs61750624, rs61750626, rs267607358, rs267607359, rs62643640, rs61751286, rs61751288, rs267607363, rs61751297, rs267607364, rs267607365, rs61751301, rs267607366, rs63749067, rs61751303, rs61751304, rs61753997, rs61751305, rs61753998, rs267607368, rs61754000, rs373787920, rs1555194979, rs762105711, rs1591834850, rs1591836930, rs139864572, rs1591838792, rs1591838814, rs1591838833, rs1591841452, rs111597150, rs1591848387, rs61750610, rs1591862022, rs1591862342, rs1591862366, rs1591863294, rs1591865617, rs1591870340, rs1591874316, rs1591886521, rs761288966, rs1591890769, rs1591895308, rs147924974, rs751286556, rs746457842, rs1591895879, rs1591914708, rs1591857613, rs1591924208, rs1591924188, rs746482504, rs772203447, rs1591858979, rs375655409 |
14521605, 8486780, 2052556, 8384898, 21357716 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Deficiency of platelet glycoprotein 1b |
Deficiency of Platelet Glycoprotein 1b |
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Fetal and neonatal alloimmune thrombocytopenia |
FNAITP |
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Hematomas |
Spontaneous hematomas |
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Nonarteritic anterior ischemic optic neuropathy |
Nonarteritic anterior ischemic optic neuropathy (NAION) |
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Pseudo-von willebrand disease |
Pseudo-von Willebrand disease |
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Sensorineural hearing loss |
Sensorineural hearing loss, bilateral |
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Subarachnoid hemorrhage |
Subarachnoid Hemorrhage |
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