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GP1BA G249V [plasma membrane]
Stable Identifier
R-HSA-9844257
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Platelet glycoprotein Ib alpha chain, Glycoprotein Ibalpha, GP-Ib alpha, GPIbA, GPIb-alpha, CD42B-alpha, CD42B, Glycocalicin, Platelet glycoprotein Ib alpha chain precursor
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of hemostasis (Homo sapiens)
Defects of platelet adhesion to exposed collagen (Homo sapiens)
Enhanced binding of GP1BA variant to VWF multimer:collagen (Homo sapiens)
GP1BA variant binds to VWF multimer:collagen (Homo sapiens)
Collagen type I fibril:VWF multimer:GP1BA variant:GP1BB:GP9:GP5 [plasma membrane] (Homo sapiens)
GP1BA variant:GP1BB:GP9:GP5 [plasma membrane] (Homo sapiens)
GP1BA variant:GP1BB:GP9 [plasma membrane] (Homo sapiens)
GP1BA variant [plasma membrane] (Homo sapiens)
GP1BA G249V [plasma membrane] (Homo sapiens)
GP1BA variant:GP1BB:GP9:GP5 [plasma membrane] (Homo sapiens)
GP1BA variant:GP1BB:GP9 [plasma membrane] (Homo sapiens)
GP1BA variant [plasma membrane] (Homo sapiens)
GP1BA G249V [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P07359 GP1BA
Gene Names
GP1BA
Chain
signal peptide:1-16, chain:17-652, chain:17-506
Reference Genes
BioGPS Gene:2811 GP1BA
COSMIC (genes):GP1BA GP1BA
CTD Gene:2811 GP1BA
dbSNP Gene:2811 GP1BA
ENSEMBL:ENSG00000185245 GP1BA
ENSEMBL_homo_sapiens_GENE:ENSG00000185245.9 GP1BA
HGNC:4439 GP1BA
KEGG Gene (Homo sapiens):2811 GP1BA
Monarch:2811 GP1BA
NCBI Gene:2811 GP1BA
OMIM:606672 GP1BA
UCSC:P07359 GP1BA
Reference Transcript
RefSeq:NM_000173.6 GP1BA
Other Identifiers
11734536_a_at
16829967
207389_PM_at
207389_at
2811
33063_at
3707337
3707338
3707339
3707340
3707341
3707342
3707343
3707344
3707345
3707346
3707347
8004024
A_14_P135838
A_24_P270829
GE57467
GO:0000902
GO:0002376
GO:0005515
GO:0005576
GO:0005615
GO:0005886
GO:0007155
GO:0007166
GO:0007596
GO:0007597
GO:0007599
GO:0009897
GO:0009986
GO:0010572
GO:0015057
GO:0016020
GO:0023052
GO:0030154
GO:0030168
GO:0030193
GO:0030312
GO:0031012
GO:0035855
GO:0042060
GO:0042730
GO:0043226
GO:0048856
GO:0048870
GO:0051209
GO:0051604
GO:0055065
GO:0055085
GO:0060089
GO:0070062
GO:0070493
GO:1903238
GO:1990779
HMNXSV003002123
HMNXSV003045445
ILMN_1753575
M22403_s_at
PH_hs_0000197
TC17000056.hg
g4504070_3p_at
g4504070_3p_x_at
Participates
as a member of
GP1BA variant [plasma membrane] (Homo sapiens)
Other forms of this molecule
GP1BA G249S [plasma membrane]
GP1BA M255V [plasma membrane]
GP1BA [plasma membrane]
GP1BA D251Y [plasma membrane]
GP1BA W246L [plasma membrane]
Modified Residues
Name
glycine 249 replaced with L-valine
Coordinate
249
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name
Identifier
Synonyms
blood platelet disease
DOID:2218
platelet disorder, Thrombocytopathy
Cross References
RefSeq
NP_000164.5
OpenTargets
ENSG00000185245
GeneCards
P07359
HPA
ENSG00000185245-GP1BA
Ensembl
ENSG00000185245
,
ENSP00000329380
,
ENST00000329125
PRO
P07359
Pharos - Targets
P07359
Orphanet
16157
PDB
3P72
,
1U0N
,
4CH8
,
1P8V
,
1SQ0
,
3PMH
,
2BP3
,
1OOK
,
1M0Z
,
6XFQ
,
1P9A
,
1QYY
,
1M10
,
4C2A
,
4MGX
,
1GWB
,
4YR6
,
4C2B
,
4CH2
Interactors (4)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P14770 GP9
1
GP9 [plasma membrane]
(R-HSA-55881)
0.787
7
UniProt:P13224 GP1BB
1
GP1BB [plasma membrane]
(R-HSA-55863)
0.704
6
UniProt:P04275 VWF
20
VWF(23-763) [platelet alpha granule lumen]
(R-HSA-114662)
VWF Q1402P (764-2813) [extracellular region]
(R-HSA-9823711)
VWF S1394F (764-2813) [extracellular region]
(R-HSA-9823696)
VWF S1387I (764-2813) [extracellular region]
(R-HSA-9823697)
VWF S1358N (764-2813) [extracellular region]
(R-HSA-9823703)
VWF G1579R (764-1605) [extracellular region]
(R-HSA-9852786)
VWF C1099P (764-1605) [extracellular region]
(R-HSA-9852778)
VWF I1568N (764-1605) [extracellular region]
(R-HSA-9852790)
VWF G1631D (1606-2813) [extracellular region]
(R-HSA-9852788)
VWF Y1584C (764-1605) [extracellular region]
(R-HSA-9852765)
VWF I1568N (764-2813) [extracellular region]
(R-HSA-9844203)
VWF C1099P (764-2813) [extracellular region]
(R-HSA-9844221)
VWF G1631D (764-2813) [extracellular region]
(R-HSA-9844230)
VWF Y1584C (764-2813) [extracellular region]
(R-HSA-9844202)
VWF G1579R (764-2813) [extracellular region]
(R-HSA-9844214)
VWF (1606-2813) [extracellular region]
(R-HSA-9822534)
VWF(764-1605) [extracellular region]
(R-HSA-9822545)
VWF W1745C (764-2813) [extracellular region]
(R-HSA-9823611)
VWF H1786D (764-2813) [extracellular region]
(R-HSA-9823634)
VWF S1783A (764-2813) [extracellular region]
(R-HSA-9823588)
0.623
2
UniProt:P63104 YWHAZ
2
YWHAZ [nucleoplasm]
(R-HSA-450469)
YWHAZ [cytosol]
(R-HSA-206099)
0.527
2
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