InnateDB Protein
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IDBP-228022.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GP1BB
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Protein Name
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glycoprotein Ib (platelet), beta polypeptide
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Synonyms
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BDPLT1; BS; CD42C; GPIBB;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000383382
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InnateDB Gene
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IDBG-121855 (GP1BB)
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Protein Structure
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Function |
Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium.
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Subcellular Localization |
Membrane; Single-pass type I membrane protein.
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Disease Associations |
Bernard-Soulier syndrome (BSS) [MIM:231200]: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. {ECO:0000269PubMed:9116284}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in heart and brain. {ECO:0000269PubMed:8200976}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
13
[view]
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Protein-Protein |
12
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000372
Leucine-rich repeat-containing N-terminal
IPR000483
Cysteine-rich flanking region, C-terminal
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PFAM |
PF01462
PF01463
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PRINTS |
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PIRSF |
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SMART |
SM00013
SM00082
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TIGRFAMs |
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Modification |
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SwissProt |
P13224
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PhosphoSite |
PhosphoSite-P13224
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TrEMBL |
F1C636
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UniProt Splice Variant |
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Entrez Gene |
2812
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UniGene |
Hs.283743
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RefSeq |
NP_000398
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HUGO |
HGNC:4440
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OMIM |
138720
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CCDS |
CCDS42980
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HPRD |
00729
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IMGT |
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EMBL |
AB086231
AF006988
HQ202736
HQ202737
HQ202738
J03259
L20860
U59632
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GenPept |
AAA20398
AAA52594
AAB93437
AAC39781
ADZ28540
ADZ28541
ADZ28542
BAC00777
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