GP9 glycoprotein IX platelet [Homo sapiens (human)] - Gene

Summary

Official Symbol: GP9provided by HGNC
Official Full Name: glycoprotein IX plateletprovided by HGNC
Primary source: HGNC:HGNC:4444
See related: Ensembl:ENSG00000169704 MIM:173515; AllianceGenome:HGNC:4444
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: GPIX; CD42a
Summary: This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]
Expression: Biased expression in bone marrow (RPKM 1.0), spleen (RPKM 0.7) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (129054845..129062406)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (131799713..131807274)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (128779622..128781249)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Oxidation shuts down an auto-inhibitory mechanism of von Willebrand factor.
Title: Oxidation shuts down an auto-inhibitory mechanism of von Willebrand factor.
Case Report: suggest that alloantibodies directed against Cab4b, the first human platelet antigen carried by glycoprotein IX, can induce severe neonatal thrombocytopenia.
Title: Cab4b, the first human platelet antigen carried by glycoprotein IX discovered in a context of severe neonatal thrombocytopenia.
ERK5 associates with CKII to play essential roles in GPIb-IX-mediated platelet activation via the PTEN/PI3K/Akt pathway.
Title: Extracellular signal-regulated kinase 5 associates with casein kinase II to regulate GPIb-IX-mediated platelet activation via the PTEN/PI3K/Akt pathway.
Data show that localization of the GP Ib-IX complex to the lipid domain is mediated by GP Ibbeta and GP IX transmembrane domains.
Title: The Transmembrane Domains of β and IX Subunits Mediate the Localization of the Platelet Glycoprotein Ib-IX Complex to the Glycosphingolipid-enriched Membrane Domain.
genetic association study in population in western India: Data suggest novel mutations in platelet glycoprotein Ib (GP1BA, GP1BB) and GP9 are associated with Bernard-Soulier syndrome in subjects studies; of 12 mutations identified, ten were novel.
Title: Novel genetic abnormalities in Bernard-Soulier syndrome in India.
Studies indicate that platelets from Bernard-Soulier syndrome (BSS) are defective in glycoprotein (GP)Ib-IX-V, a platelet-specific adhesion-signaling complex, composed of GPIbalpha disulfide linked to GPIbbeta, and noncovalently associated with GPIX and GPV.
Title: Bernard-Soulier syndrome: an update.
GPIX increased the expression of GPIba by promoting the formation of a disulfide bond between GPIba and GPIbb in transfected CHO-K1 cells.
Title: Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.
GPIbbeta missense mutations from Bernard-Soulier syndrome were examined for changes to GPIb-IX complex surface expression. Mutations A108P and P74R were found to maintain normal secretion/folding of GPIbbeta(E) but were unable to support GPIX surface expression
Title: Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera.
Report glycoprotein Ib/IX complex mutations found in Bernard-Soulier syndrome in Indian patients.
Title: Molecular basis of Bernard-Soulier syndrome in 27 patients from India.
GPIIb/IIIa is the primary receptor set involved in platelet adhesion to adsorbed fibrinogen and serum albumin irrespective of their degree of adsorption-induced unfolding, while the GPIb-IX-V receptor complex plays an insignificant role.
Title: Delineating the roles of the GPIIb/IIIa and GP-Ib-IX-V platelet receptors in mediating platelet adhesion to adsorbed fibrinogen and albumin.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bernard Soulier syndrome MedGen: C0005129 OMIM: 231200 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood coagulation	TAS Traceable Author Statement more info	PubMed
involved_in blood coagulation, intrinsic pathway	IPI Inferred from Physical Interaction more info	PubMed
involved_in blood coagulation, intrinsic pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in megakaryocyte development	ISO Inferred from Sequence Orthology more info
involved_in megakaryocyte development	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of platelet activation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of platelet activation	NAS Non-traceable Author Statement more info	PubMed
involved_in release of sequestered calcium ion into cytosol	IDA Inferred from Direct Assay more info	PubMed
involved_in release of sequestered calcium ion into cytosol	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of glycoprotein Ib-IX-V complex	IPI Inferred from Physical Interaction more info	PubMed
part_of glycoprotein Ib-IX-V complex	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: platelet glycoprotein IX

Names: glycoprotein 9

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

NG_008715.1 RefSeqGene

Range

4966..6610

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_477

mRNA and Protein(s)

NM_000174.5 → NP_000165.1 platelet glycoprotein IX precursor

See identical proteins and their annotated locations for NP_000165.1

Status: REVIEWED

Source sequence(s)

BC030229, X52997

Consensus CDS

CCDS3055.1

UniProtKB/Swiss-Prot

P14770, Q14445, Q8N1D1, Q92525

UniProtKB/TrEMBL

D1MER8

Related

ENSP00000303942.4, ENST00000307395.5

Conserved Domains (4) summary

smart00013
Location:19 → 55

LRRNT; Leucine rich repeat N-terminal domain

smart00082
Location:85 → 130

LRRCT; Leucine rich repeat C-terminal domain

sd00031
Location:46 → 76

LRR_1; leucine-rich repeat [structural motif]

pfam12799
Location:54 → 86

LRR_4; Leucine Rich repeats (2 copies)