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GP1BA glycoprotein Ib platelet subunit alpha [ Homo sapiens (human) ]

Gene ID: 2811, updated on 3-Jun-2018
Official Symbol
GP1BAprovided by HGNC
Official Full Name
glycoprotein Ib platelet subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:4439
See related
Ensembl:ENSG00000185245 MIM:606672; Vega:OTTHUMG00000177946
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BSS; GP1B; VWDP; CD42B; GPIbA; BDPLT1; BDPLT3; DBPLT3; GPIbalpha; CD42b-alpha
Summary
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]
Expression
Biased expression in lymph node (RPKM 7.8), spleen (RPKM 2.5) and 9 other tissues See more
Orthologs
See GP1BA in Genome Data Viewer
Location:
17p13.2
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (4932275..4935030)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4835312..4838325)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene misshapen like kinase 1 Neighboring gene RNA, 7SL, cytoplasmic 784, pseudogene Neighboring gene chromosome 17 open reading frame 107 Neighboring gene cholinergic receptor nicotinic epsilon subunit Neighboring gene solute carrier family 25 member 11 Neighboring gene ring finger protein 167 Neighboring gene profilin 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Bernard Soulier syndrome
MedGen: C0005129 OMIM: 231200 GeneReviews: Not available
Compare labs
Bernard-Soulier syndrome, type A2, autosomal dominant
MedGen: C3277076 OMIM: 153670 GeneReviews: Not available
Compare labs
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
MedGen: C1847711 OMIM: 258660 GeneReviews: Not available
Compare labs
Pseudo von Willebrand disease
MedGen: C1280798 OMIM: 177820 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog
  • ECM-receptor interaction, organism-specific biosystem (from KEGG)
    ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • ECM-receptor interaction, conserved biosystem (from KEGG)
    ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
    Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
  • GP1b-IX-V activation signalling, organism-specific biosystem (from REACTOME)
    GP1b-IX-V activation signalling, organism-specific biosystemThe platelet GPIb complex (GP1b-IX-V) together with GPVI are primarily responsible for regulating the initial adhesion of platelets to the damaged blood vessel and platelet activation. The importance...
  • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
    Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • Hematopoietic cell lineage, conserved biosystem (from KEGG)
    Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Intrinsic Pathway of Fibrin Clot Formation, organism-specific biosystem (from REACTOME)
    Intrinsic Pathway of Fibrin Clot Formation, organism-specific biosystemThe intrinsic pathway of blood clotting connects interactions among kininogen (high molecular weight kininogen, HK), prekallikrein (PK), and factor XII to the activation of clotting factor X by a ser...
  • Platelet Adhesion to exposed collagen, organism-specific biosystem (from REACTOME)
    Platelet Adhesion to exposed collagen, organism-specific biosystemInitiation of platelet adhesion is the first step in the formation of the platelet plug. Circulating platelets are arrested and subsequently activated by exposed collagen and vWF. It is not entirely ...
  • Platelet Aggregation (Plug Formation), organism-specific biosystem (from REACTOME)
    Platelet Aggregation (Plug Formation), organism-specific biosystemThe tethering of platelets to the site of vascular injury is the first step in the formation of a platelet thrombus. Firm adhesion of these tethered platelets, as well as the additional recruitment o...
  • Platelet activation, organism-specific biosystem (from KEGG)
    Platelet activation, organism-specific biosystemPlatelets play a key and beneficial role for primary hemostasis on the disruption of the integrity of vessel wall. Platelet adhesion and activation at sites of vascular wall injury is initiated by ad...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • amb2 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
    amb2 Integrin signaling, organism-specific biosystem
    amb2 Integrin signaling
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC34595

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thrombin-activated receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
blood coagulation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
blood coagulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
blood coagulation, intrinsic pathway TAS
Traceable Author Statement
more info
 
cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
fibrinolysis IDA
Inferred from Direct Assay
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
PubMed 
platelet aggregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
platelet aggregation IEA
Inferred from Electronic Annotation
more info
 
regulation of blood coagulation TAS
Traceable Author Statement
more info
PubMed 
regulation of megakaryocyte differentiation TAS
Traceable Author Statement
more info
 
thrombin-activated receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
platelet glycoprotein Ib alpha chain
Names
GP-Ib alpha
antigen CD42b-alpha
glycoprotein Ib (platelet), alpha polypeptide
glycoprotein Ib platelet alpha subunit
mutant platelet membrane glycoprotein Ib-alpha
platelet membrane glycoprotein 1b-alpha subunit
platelet membrane glycoprotein Ib-alpha

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008767.2 RefSeqGene

    Range
    5003..7736
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000173.6NP_000164.5  platelet glycoprotein Ib alpha chain precursor

    See identical proteins and their annotated locations for NP_000164.5

    Status: REVIEWED

    Source sequence(s)
    AI357061, BC027955, HY099146, KC120774
    Consensus CDS
    CCDS54068.1
    UniProtKB/Swiss-Prot
    P07359
    UniProtKB/TrEMBL
    L7UYB8
    Related
    ENSP00000329380.5, OTTHUMP00000258165, ENST00000329125.5, OTTHUMT00000439889
    Conserved Domains (6) summary
    smart00013
    Location:1950
    LRRNT; Leucine rich repeat N-terminal domain
    smart00082
    Location:221281
    LRRCT; Leucine rich repeat C-terminal domain
    cd00116
    Location:51200
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00031
    Location:213225
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:3048
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:116176
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    4932275..4935030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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