Reactome | GP1BB [plasma membrane]

GP1BB [plasma membrane]

Stable Identifier

R-HSA-55863

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

Platelet glycoprotein Ib beta chain, GP-Ib beta, GPIbB, GPIb-beta, CD42B-beta, CD42C

Locations in the PathwayBrowser

Expand all

Disease (Homo sapiens)

- Diseases of hemostasis (Homo sapiens)
  - Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) (Homo sapiens)
    - Defective factor IX causes hemophilia B (Homo sapiens)
      - Defective F9 activation (Homo sapiens)
        
        FIX(29-461) variant is not activated (factor XIa catalyst) (Homo sapiens)
        
        factor XIa:GPIb:GPIX:GPV complex [plasma membrane] (Homo sapiens)
        
        GPIb-IX-V [plasma membrane] (Homo sapiens)
        
        GPIb [plasma membrane] (Homo sapiens)
        
        GP1BB [plasma membrane] (Homo sapiens)
  - Defects of platelet adhesion to exposed collagen (Homo sapiens)
    - Defective binding of VWF variant to GPIb:IX:V (Homo sapiens)
      - VWF variant does not bind GPIb:IX:V (Homo sapiens)
        
        GP1BA:GP1BB:GP9:GP5 [plasma membrane] (Homo sapiens)
        
        GP1BA:GP1BB:GP9 [plasma membrane] (Homo sapiens)
        
        GP1BB [plasma membrane] (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)
        
        GP1BB [plasma membrane] (Homo sapiens)
        
        GP1BA variant:GP1BB:GP9:GP5 [plasma membrane] (Homo sapiens)
        
        GP1BA variant:GP1BB:GP9 [plasma membrane] (Homo sapiens)
        
        GP1BB [plasma membrane] (Homo sapiens)

External Reference Information

External Reference

UniProt:P13224 GP1BB

Gene Names

GP1BB

Chain

signal peptide:1-25, chain:26-206

Reference Genes

BioGPS Gene:2812 GP1BB

COSMIC (genes):GP1BB GP1BB

CTD Gene:2812 GP1BB

dbSNP Gene:2812 GP1BB

ENSEMBL:ENSG00000203618 GP1BB

ENSEMBL_homo_sapiens_GENE:ENSG00000203618.6 GP1BB

HGNC:4440 GP1BB

KEGG Gene (Homo sapiens):2812 GP1BB

Monarch:2812 GP1BB

NCBI Gene:2812 GP1BB

OMIM:138720 GP1BB

UCSC:P13224 GP1BB

Reference Transcript

RefSeq:NM_000407.4 GP1BB

Other Identifiers

11715268_s_at

11762460_at

11762461_x_at

16927082

206655_PM_s_at

206655_s_at

2812

34412_s_at

3936991

3936994

3936997

3936999

3937001

40632_at

8071259

8071268

A_23_P29124

A_33_P3265030

GE79445

GO:0004888

GO:0005515

GO:0005886

GO:0007155

GO:0007166

GO:0007596

GO:0007597

GO:0007599

GO:0010572

GO:0016020

GO:0023052

GO:0030154

GO:0030168

GO:0035855

GO:0042060

GO:0042802

GO:0048856

GO:0051209

GO:0051604

GO:0055065

GO:0055085

GO:0060089

GO:1990779

HMNXSV003055291

Hs.283743.1.S2_3p_s_at

ILMN_1789627

PH_hs_0030657

U59632_s_at

g9945387_3p_s_at

Participates

as a component of

Inferred To

si:dkey-285c2.8 [plasma membrane] (Danio rerio)

gp1bb [plasma membrane] (Xenopus tropicalis)

GP1BB [plasma membrane] (Bos taurus)

GP1BB [plasma membrane] (Gallus gallus)

GP1BB [plasma membrane] (Sus scrofa)

Gp1bb [plasma membrane] (Mus musculus)

Gp1bb [plasma membrane] (Rattus norvegicus)

Cross References

RefSeq

NP_000398.1

OpenTargets

ENSG00000203618

HPA

ENSG00000203618-GP1BB

GeneCards

P13224

Ensembl

ENST00000366425, ENSG00000203618, ENSP00000383382

PRO

P13224

Pharos - Targets

P13224

Orphanet

16158

PDB

3REZ, 3RFE

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P07359 GP1BA	6	GP1BA G249S [plasma membrane] (R-HSA-9844280) GP1BA G249V [plasma membrane] (R-HSA-9844257) GP1BA M255V [plasma membrane] (R-HSA-9844240) GP1BA [plasma membrane] (R-HSA-55861) GP1BA D251Y [plasma membrane] (R-HSA-9844197) GP1BA W246L [plasma membrane] (R-HSA-9844258)	0.704	6

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