Reactome | GP1BA [plasma membrane]

GP1BA [plasma membrane]

Stable Identifier

R-HSA-55861

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

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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)
        
        GP1BA [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)
        
        GP1BA [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 component of

as an output of

GP1BA gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6 (Homo sapiens)

Other forms of this molecule

GP1BA G249S [plasma membrane]

GP1BA G249V [plasma membrane]

GP1BA M255V [plasma membrane]

GP1BA D251Y [plasma membrane]

GP1BA W246L [plasma membrane]

Inferred To

Ghost homologue of GP1BA [plasma membrane] (Bos taurus)

Ghost homologue of GP1BA [plasma membrane] (Sus scrofa)

tsku [plasma membrane] (Danio rerio)

Gp1ba [plasma membrane] (Mus musculus)

Gp1ba [plasma membrane] (Rattus norvegicus)

GP1BA [plasma membrane] (Gallus gallus)

TSKU [plasma membrane] (Gallus gallus)

Homologues of GP1BA [plasma membrane] (Danio rerio)

Homologues of GP1BA [plasma membrane] (Gallus gallus)

Homologues of GP1BA [plasma membrane] (Xenopus tropicalis)

LOC100004428 [plasma membrane] (Danio rerio)

dcn [plasma membrane] (Xenopus tropicalis)

lrrc3c [plasma membrane] (Xenopus tropicalis)

Cross References

RefSeq

NP_000164.5

OpenTargets

ENSG00000185245

GeneCards

P07359

HPA

ENSG00000185245-GP1BA

Ensembl

ENST00000329125, ENSG00000185245, ENSP00000329380

PRO

P07359

Pharos - Targets

P07359

Orphanet

16157

PDB

1OOK, 6XFQ, 4CH8, 2BP3, 1SQ0, 1GWB, 4YR6, 1M10, 1P9A, 1M0Z, 4MGX, 3PMH, 1U0N, 1QYY, 1P8V, 4C2A, 4CH2, 3P72, 4C2B

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