Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide... See more...

Aliases for GP5 Gene

Aliases for GP5 Gene

  • Glycoprotein V Platelet 2 3 5
  • Platelet Glycoprotein V 2 3 4
  • Glycoprotein 5 3 4
  • GPV 3 4
  • Glycoprotein V (Platelet) 2
  • CD42d Antigen 4
  • CD42d 3

External Ids for GP5 Gene

Previous GeneCards Identifiers for GP5 Gene

  • GC03M193330
  • GC03M197566
  • GC03M195514
  • GC03M195433
  • GC03M195595
  • GC03M194115
  • GC03M191495

Summaries for GP5 Gene

Entrez Gene Summary for GP5 Gene

  • Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133]).[supplied by OMIM, Nov 2010]

GeneCards Summary for GP5 Gene

GP5 (Glycoprotein V Platelet) is a Protein Coding gene. Diseases associated with GP5 include Bernard-Soulier Syndrome and Ureter Inverted Papilloma. Among its related pathways are Hematopoietic cell lineage and Formation of Fibrin Clot (Clotting Cascade). Gene Ontology (GO) annotations related to this gene include collagen binding. An important paralog of this gene is LRRN2.

UniProtKB/Swiss-Prot Summary for GP5 Gene

  • The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis.

Gene Wiki entry for GP5 Gene

Additional gene information for GP5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GP5 Gene

Genomics for GP5 Gene

GeneHancer (GH) Regulatory Elements for GP5 Gene

Promoters and enhancers for GP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J194399 Enhancer 0.4 Ensembl 508.8 -0.7 -735 1.2 SPI1 MAX ZNF362 MNT ELF1 GP5 lnc-GP5-1
GH03J194484 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -88.1 -88088 6.7 HNRNPK ZBTB40 EP300 CTCF NRF1 POLR2G USF1 JUND FOS ZFX LINC00884 lnc-GP5-4 RNU6-1101P GP5 ATP13A3 HES1
GH03J194311 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +86.2 86151 3 NRF1 ZIC2 AFF1 HES1 MYC CTBP1 TEAD1 CTCF MXI1 ZNF341 HES1 ENSG00000232874 GP5 LINC00887 lnc-HES1-9
GH03J194314 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +83.7 83709 1.7 ZNF217 EP300 CTCF ZNF639 ZNF10 ZIC2 POLR2A ZBTB10 CLOCK ZNF423 HES1 ENSG00000232874 GP5 LINC00887 lnc-HES1-9
GH03J194264 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +130.8 130801 7.1 ZNF217 CTCF MYC ZNF263 GABPA MXI1 RBM25 KMT2B NR2F2 CREB1 ENSG00000232874 HES1 GP5 FAM43A TMEM44 LINC02048 LINC02036
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GP5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GP5

Top Transcription factor binding sites by QIAGEN in the GP5 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • FOXL1
  • GATA-1
  • HTF
  • Nkx2-5

Genomic Locations for GP5 Gene

Genomic Locations for GP5 Gene
chr3:194,394,821-194,399,266
(GRCh38/hg38)
Size:
4,446 bases
Orientation:
Minus strand
chr3:194,115,550-194,119,995
(GRCh37/hg19)
Size:
4,446 bases
Orientation:
Minus strand

Genomic View for GP5 Gene

Genes around GP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GP5 Gene

Proteins for GP5 Gene

  • Protein details for GP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40197-GPV_HUMAN
    Recommended name:
    Platelet glycoprotein V
    Protein Accession:
    P40197
    Secondary Accessions:
    • D1MER9

    Protein attributes for GP5 Gene

    Size:
    560 amino acids
    Molecular mass:
    60959 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GP5 Gene

Post-translational modifications for GP5 Gene

  • The N-terminus is blocked.
  • Glycosylation at Asn51, Asn181, Asn243, Asn267, Asn298, Asn312, Asn385, and Asn499
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for GP5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GP5 Gene

Domains & Families for GP5 Gene

Gene Families for GP5 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for GP5 Gene

Blocks:
  • Cysteine-rich flanking region, C-terminal
  • Leucine-rich repeat signature
  • Cysteine-rich flanking region, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GP5 Gene

GenScript: Design optimal peptide antigens:
  • Glycoprotein V (Platelet) (D1MER9_HUMAN)
  • Glycoprotein 5 (GPV_HUMAN)
genes like me logo Genes that share domains with GP5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GP5 Gene

Function for GP5 Gene

Molecular function for GP5 Gene

UniProtKB/Swiss-Prot Function:
The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis.
GENATLAS Biochemistry:
platelet glycoprotein V,83kDa,non covalently bound to the GP1B and GP9 complex in the von Willebrand receptor

Phenotypes From GWAS Catalog for GP5 Gene

Gene Ontology (GO) - Molecular Function for GP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 1730602
genes like me logo Genes that share ontologies with GP5: view
genes like me logo Genes that share phenotypes with GP5: view

Animal Models for GP5 Gene

MGI Knock Outs for GP5:
  • Gp5 Gp5<tm1Drp>
  • Gp5 Gp5<tm1Cgh>

Animal Model Products

CRISPR Products

miRNA for GP5 Gene

miRTarBase miRNAs that target GP5

Clone Products

  • Addgene plasmids for GP5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GP5 Gene

Localization for GP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GP5 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GP5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7690959
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with GP5: view

Pathways & Interactions for GP5 Gene

genes like me logo Genes that share pathways with GP5: view

Gene Ontology (GO) - Biological Process for GP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA,NAS --
GO:0007596 blood coagulation TAS --
GO:0007597 blood coagulation, intrinsic pathway TAS --
GO:0007599 hemostasis IEA --
GO:0030168 platelet activation TAS --
genes like me logo Genes that share ontologies with GP5: view

No data available for SIGNOR curated interactions for GP5 Gene

Drugs & Compounds for GP5 Gene

(2) Drugs for GP5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for GP5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GP5: view

Transcripts for GP5 Gene

mRNA/cDNA for GP5 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for GP5

Alternative Splicing Database (ASD) splice patterns (SP) for GP5 Gene

No ASD Table

Relevant External Links for GP5 Gene

GeneLoc Exon Structure for
GP5

Expression for GP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GP5 Gene

mRNA differential expression in normal tissues according to GTEx for GP5 Gene

This gene is overexpressed in Whole Blood (x7.5).

Protein differential expression in normal tissues from HIPED for GP5 Gene

This gene is overexpressed in Platelet (33.8) and Serum (27.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GP5 Gene



Protein tissue co-expression partners for GP5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GP5

SOURCE GeneReport for Unigene cluster for GP5 Gene:

Hs.73734

mRNA Expression by UniProt/SwissProt for GP5 Gene:

P40197-GPV_HUMAN
Tissue specificity: Platelets and megakaryocytes.

Evidence on tissue expression from TISSUES for GP5 Gene

  • Blood(4.5)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with GP5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for GP5 Gene

Orthologs for GP5 Gene

This gene was present in the common ancestor of animals.

Orthologs for GP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GP5 31 30
  • 99.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GP5 31 30
  • 82.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gp5 17 31 30
  • 78.73 (n)
chicken
(Gallus gallus)
Aves LOC100857508 30
  • 52.85 (n)
GP5 31
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gp5 30
  • 48.22 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101884430 30
  • 47.63 (n)
GP5 31
  • 35 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG16974 31
  • 10 (a)
OneToMany
Species where no ortholog for GP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GP5 Gene

ENSEMBL:
Gene Tree for GP5 (if available)
TreeFam:
Gene Tree for GP5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GP5: view image

Paralogs for GP5 Gene

(1) SIMAP similar genes for GP5 Gene using alignment to 2 proteins:

  • GPV_HUMAN
  • D1MER9_HUMAN
genes like me logo Genes that share paralogs with GP5: view

Variants for GP5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GP5 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
770150 Benign: not provided 194,397,310(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GP5 Gene

Structural Variations from Database of Genomic Variants (DGV) for GP5 Gene

Variant ID Type Subtype PubMed ID
nsv4178 CNV insertion 18451855

Variation tolerance for GP5 Gene

Residual Variation Intolerance Score: 36.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.54; 55.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GP5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GP5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GP5 Gene

Disorders for GP5 Gene

MalaCards: The human disease database

(33) MalaCards diseases for GP5 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GP5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GP5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GP5 Gene

Publications for GP5 Gene

  1. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. (PMID: 15477207) Noris P … Balduini CL (Haematologica 2004) 3 23 41 54
  2. Cloning and characterization of the gene encoding the human platelet glycoprotein V. A member of the leucine-rich glycoprotein family cleaved during thrombin-induced platelet activation. (PMID: 8407908) Lanza F … Phillips DR (The Journal of biological chemistry 1993) 3 4 23 54
  3. Human platelet glycoprotein V: characterization of the polypeptide and the related Ib-V-IX receptor system of adhesive, leucine-rich glycoproteins. (PMID: 7690959) Hickey MJ … Roth GJ (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 54
  4. Human platelet glycoprotein V: a surface leucine-rich glycoprotein related to adhesion. (PMID: 2372284) Roth GJ … Williams SA (Biochemical and biophysical research communications 1990) 3 4 23 54
  5. Rapid purification and characterization of human platelet glycoprotein V: the amino acid sequence contains leucine-rich repetitive modules as in glycoprotein Ib. (PMID: 2350580) Shimomura T … Titani K (Blood 1990) 3 4 23 54

Products for GP5 Gene

Sources for GP5 Gene