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

Gene ID: 2811, updated on 19-Jul-2021

Summary

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
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
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Genomic context

See GP1BA in Genome Data Viewer
Location:
17p13.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (4932277..4935023)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4835572..4838318)

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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34595

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables thrombin-activated receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within blood coagulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in fibrinolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in platelet activation TAS
Traceable Author Statement
more info
PubMed 
involved_in platelet aggregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of blood coagulation TAS
Traceable Author Statement
more info
PubMed 
involved_in thrombin-activated receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    4983..7729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_480

mRNA and Protein(s)

  1. NM_000173.7NP_000164.5  platelet glycoprotein Ib alpha chain precursor

    See identical proteins and their annotated locations for NP_000164.5

    Status: REVIEWED

    Source sequence(s)
    BC027955, HY099146, KC120774
    Consensus CDS
    CCDS54068.1
    UniProtKB/Swiss-Prot
    P07359
    UniProtKB/TrEMBL
    L7UYB8
    Related
    ENSP00000329380.5, ENST00000329125.6
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    4932277..4935023
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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