GP1BA

Protein identityUniProt · HPA

UniProt accession

P07359

Gene

GP1BA

Ensembl

ENSG00000185245

Chromosome

17

Canonical length

652 aa

Protein class

CD markers, Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins

OverviewNCBI Gene

Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]

Canonical amino-acid sequenceUniProt

652 residues, UniProt reviewed canonical sequence.

>P07359|GP1BA
     1  MPLLLLLLLL PSPLHPHPIC EVSKVASHLE VNCDKRNLTA LPPDLPKDTT ILHLSENLLY
    61  TFSLATLMPY TRLTQLNLDR CELTKLQVDG TLPVLGTLDL SHNQLQSLPL LGQTLPALTV
   121  LDVSFNRLTS LPLGALRGLG ELQELYLKGN ELKTLPPGLL TPTPKLEKLS LANNNLTELP
   181  AGLLNGLENL DTLLLQENSL YTIPKGFFGS HLLPFAFLHG NPWLCNCEIL YFRRWLQDNA
   241  ENVYVWKQGV DVKAMTSNVA SVQCDNSDKF PVYKYPGKGC PTLGDEGDTD LYDYYPEEDT
   301  EGDKVRATRT VVKFPTKAHT TPWGLFYSWS TASLDSQMPS SLHPTQESTK EQTTFPPRWT
   361  PNFTLHMESI TFSKTPKSTT EPTPSPTTSE PVPEPAPNMT TLEPTPSPTT PEPTSEPAPS
   421  PTTPEPTSEP APSPTTPEPT SEPAPSPTTP EPTPIPTIAT SPTILVSATS LITPKSTFLT
   481  TTKPVSLLES TKKTIPELDQ PPKLRGVLQG HLESSRNDPF LHPDFCCLLP LGFYVLGLFW
   541  LLFASVVLIL LLSWVGHVKP QALDSGQGAA LTTATQTTHL ELQRGRQVTV PRAWLLFLRG
   601  SLPTFRSSLF LWVRPNGRVG PLVAGRRPSA LSQGRGQDLL STVSIRYSGH SL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GP1BA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.51

Highest tissue expression

14 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GP1BA.

Disease | AllUniProt

Conditions GP1BA is implicated in, by any mechanism.

• Non-arteritic anterior ischemic optic neuropathy (NAION) MIM:258660
• Bernard-Soulier syndrome (BSS) MIM:231200
• Bernard-Soulier syndrome A2, autosomal dominant (BSSA2) MIM:153670
• von Willebrand disease, platelet-type (VWDP) MIM:177820

Disease | GeneticClinVar

94 pathogenic / likely-pathogenic of 341 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Bernard Soulier syndrome
• Bernard-Soulier syndrome, type A2, autosomal dominant
• Pseudo von Willebrand disease
• Nonarteritic anterior ischemic optic neuropathy, susceptibility to
• Thrombocytopenia

Disease | AutoantibodyPubMed

Conditions in which antibodies against GP1BA are reported. Each links to that disease's full target list.

• Purpura, Thrombocytopenic, Idiopathic 10
• Thrombocytopenia 6

ReferencesPubMed · IEDB

Publications for GP1BA from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.66

gnomAD pLI

0

gnomAD missense Z

-0.3

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• blood coagulation
• blood coagulation, intrinsic pathway
• cell adhesion
• cell morphogenesis
• cell surface receptor signaling pathway
• fibrinolysis
• megakaryocyte development
• platelet activation
• positive regulation of platelet activation
• regulation of blood coagulation
• release of sequestered calcium ion into cytosol

Molecular functions

• signaling receptor activity
• thrombin-activated receptor activity

Cellular components

• cell surface
• external side of plasma membrane
• extracellular exosome
• glycoprotein Ib-IX-V complex
• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Leucine-rich repeat N-terminal domain
• Cysteine-rich flanking region, C-terminal
• Leucine-rich repeat
• Leucine-rich repeat, typical subtype
• Leucine-rich repeat domain superfamily
• Leucine rich repeat N-terminal domain
• Leucine rich repeat

KeywordsUniProt

• Bernard Soulier syndrome
• Blood coagulation
• Cell adhesion
• Disulfide bond
• Glycoprotein
• Hemostasis
• Leucine-rich repeat
• Membrane
• Phosphoprotein
• Repeat
• Signal
• Sulfation
• Transmembrane
• Transmembrane helix
• von Willebrand disease

InteractionsUniProt · HPA

Protein binding partners of GP1BA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FLNA
• FLNB
• VWF