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GP5 glycoprotein V platelet [ Homo sapiens (human) ]

Gene ID: 2814, updated on 2-Nov-2024

Summary

Official Symbol
GP5provided by HGNC
Official Full Name
glycoprotein V plateletprovided by HGNC
Primary source
HGNC:HGNC:4443
See related
Ensembl:ENSG00000178732 MIM:173511; AllianceGenome:HGNC:4443
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GPV; CD42d
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See GP5 in Genome Data Viewer
Location:
3q29
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (194394821..194399266, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (197093240..197097685, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (194115550..194119995, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194071533-194072382 Neighboring gene carboxypeptidase N subunit 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194089931-194090895 Neighboring gene leucine rich repeat containing 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15021 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194120825-194121378 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194121379-194121931 Neighboring gene ATPase 13A3 Neighboring gene MPRA-validated peak4979 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194167532-194168731 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194170227-194171426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15023 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21026 Neighboring gene ATP13A3 divergent transcript Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194218672-194219871 Neighboring gene Sharpr-MPRA regulatory region 12272 Neighboring gene RNA, U6 small nuclear 1101, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
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

Preferred Names
platelet glycoprotein V
Names
glycoprotein 5

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.

mRNA and Protein(s)

  1. NM_004488.2NP_004479.1  platelet glycoprotein V precursor

    See identical proteins and their annotated locations for NP_004479.1

    Status: VALIDATED

    Source sequence(s)
    AC125362
    Consensus CDS
    CCDS3307.1
    UniProtKB/Swiss-Prot
    D1MER9, P40197
    Related
    ENSP00000509337.1, ENST00000692618.1
    Conserved Domains (4) summary
    smart00082
    Location:421472
    LRRCT; Leucine rich repeat C-terminal domain
    cd00116
    Location:163400
    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 ...
    sd00033
    Location:100123
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:195254
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    194394821..194399266 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    197093240..197097685 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)