GP1BA W246L [plasma membrane]

Stable Identifier
R-HSA-9844258
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
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
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
Other forms of this molecule
GP1BA G249S [plasma membrane]
GP1BA G249V [plasma membrane]
GP1BA M255V [plasma membrane]
GP1BA [plasma membrane]
GP1BA D251Y [plasma membrane]
Modified Residues
Name
L-tryptophan 246 replaced with L-leucine
Coordinate
246
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
Disease
Name Identifier Synonyms
blood platelet disease DOID:2218 platelet disorder, Thrombocytopathy
Cross References
RefSeq
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
Interactors (4)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P14770 GP9  1 0.787 7
 UniProt:P13224 GP1BB  1 0.704 6
 UniProt:P04275 VWF  20 0.623 2
 UniProt:P63104 YWHAZ  2 0.527 2
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