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Aliases for GPIHBP1 Gene

Aliases for GPIHBP1 Gene

  • Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1 2 3 5
  • GPI Anchored High Density Lipoprotein Binding Protein 1 2 3
  • GPI-Anchored HDL-Binding Protein 1 3 4
  • Endothelial Cell LPL Transporter 2 3
  • GPI-HBP1 3 4
  • High Density Lipoprotein-Binding Protein 1 4
  • HYPL1D 3
  • HBP1 4

External Ids for GPIHBP1 Gene

Previous GeneCards Identifiers for GPIHBP1 Gene

  • GC08P144367
  • GC08P144295
  • GC08P139547

Summaries for GPIHBP1 Gene

Entrez Gene Summary for GPIHBP1 Gene

  • This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

GeneCards Summary for GPIHBP1 Gene

GPIHBP1 (Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1) is a Protein Coding gene. Diseases associated with GPIHBP1 include hyperlipoproteinemia, type 1d and familial lipoprotein lipase deficiency. Among its related pathways are C-MYC pathway and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. GO annotations related to this gene include lipid binding and protein transmembrane transporter activity.

UniProtKB/Swiss-Prot for GPIHBP1 Gene

  • Plays a key role in the lipolytic processing of chylomicrons. Required for the transport of lipoprotein lipase LPL into the capillary lumen (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPIHBP1 Gene

Genomics for GPIHBP1 Gene

Regulatory Elements for GPIHBP1 Gene

Genomic Location for GPIHBP1 Gene

Chromosome:
8
Start:
143,213,193 bp from pter
End:
143,217,170 bp from pter
Size:
3,978 bases
Orientation:
Plus strand

Genomic View for GPIHBP1 Gene

Genes around GPIHBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPIHBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPIHBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPIHBP1 Gene

Proteins for GPIHBP1 Gene

  • Protein details for GPIHBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IV16-HDBP1_HUMAN
    Recommended name:
    Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1
    Protein Accession:
    Q8IV16
    Secondary Accessions:
    • Q6P3T2
    • Q86W15

    Protein attributes for GPIHBP1 Gene

    Size:
    184 amino acids
    Molecular mass:
    19806 Da
    Quaternary structure:
    • Binds with high affinity to high-density lipoprotein (HDL) (By similarity). Binds to lipoprotein lipase (LPL), chylomicrons and APOA5.

neXtProt entry for GPIHBP1 Gene

Proteomics data for GPIHBP1 Gene at MOPED

Post-translational modifications for GPIHBP1 Gene

  • Glycosylation of Asn-78 is critical for cell surface localization and the binding of chylomicrons and lipoprotein lipase.
  • Glycosylation at Asn 78
  • Modification sites at PhosphoSitePlus

Other Protein References for GPIHBP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GPIHBP1 Gene

Domains & Families for GPIHBP1 Gene

Gene Families for GPIHBP1 Gene

Protein Domains for GPIHBP1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GPIHBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IV16

UniProtKB/Swiss-Prot:

HDBP1_HUMAN :
  • Contains 1 UPAR/Ly6 domain.
Domain:
  • Contains 1 UPAR/Ly6 domain.
genes like me logo Genes that share domains with GPIHBP1: view

Function for GPIHBP1 Gene

Molecular function for GPIHBP1 Gene

UniProtKB/Swiss-Prot Function:
Plays a key role in the lipolytic processing of chylomicrons. Required for the transport of lipoprotein lipase LPL into the capillary lumen (By similarity).

Gene Ontology (GO) - Molecular Function for GPIHBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008035 high-density lipoprotein particle binding IEA --
GO:0008320 protein transmembrane transporter activity IEA,ISS 20620994
genes like me logo Genes that share ontologies with GPIHBP1: view
genes like me logo Genes that share phenotypes with GPIHBP1: view

Human Phenotype Ontology for GPIHBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for GPIHBP1

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GPIHBP1 Gene

Localization for GPIHBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPIHBP1 Gene

Apical cell membrane; Lipid-anchor, GPI-anchor. Basolateral cell membrane; Lipid-anchor, GPI-anchor. Cell membrane; Peripheral membrane protein; Extracellular side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GPIHBP1 Gene COMPARTMENTS Subcellular localization image for GPIHBP1 gene
Compartment Confidence
extracellular 5
plasma membrane 4

No data available for Gene Ontology (GO) - Cellular Components for GPIHBP1 Gene

Pathways & Interactions for GPIHBP1 Gene

genes like me logo Genes that share pathways with GPIHBP1: view

Interacting Proteins for GPIHBP1 Gene

Gene Ontology (GO) - Biological Process for GPIHBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0006886 intracellular protein transport IEA,ISS 20620994
GO:0050821 protein stabilization IEA,ISS --
GO:0071503 response to heparin IMP 20124439
GO:0090321 positive regulation of chylomicron remnant clearance IEA,ISS --
genes like me logo Genes that share ontologies with GPIHBP1: view

No data available for SIGNOR curated interactions for GPIHBP1 Gene

Drugs & Compounds for GPIHBP1 Gene

No Compound Related Data Available

Transcripts for GPIHBP1 Gene

mRNA/cDNA for GPIHBP1 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GPIHBP1 Gene

Glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPIHBP1 Gene

No ASD Table

Relevant External Links for GPIHBP1 Gene

GeneLoc Exon Structure for
GPIHBP1
ECgene alternative splicing isoforms for
GPIHBP1

Expression for GPIHBP1 Gene

mRNA expression in normal human tissues for GPIHBP1 Gene

mRNA differential expression in normal tissues according to GTEx for GPIHBP1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.3), Adipose - Visceral (Omentum) (x5.3), and Adipose - Subcutaneous (x4.1).

SOURCE GeneReport for Unigene cluster for GPIHBP1 Gene Hs.426410

genes like me logo Genes that share expression patterns with GPIHBP1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for GPIHBP1 Gene

Orthologs for GPIHBP1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for GPIHBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPIHBP1 35
  • 92.17 (n)
  • 90.36 (a)
cow
(Bos Taurus)
Mammalia GPIHBP1 35
  • 70.98 (n)
  • 55.29 (a)
dog
(Canis familiaris)
Mammalia GPIHBP1 35
  • 72.92 (n)
  • 57.5 (a)
Species with no ortholog for GPIHBP1:
  • 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • mouse (Mus musculus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GPIHBP1 Gene

ENSEMBL:
Gene Tree for GPIHBP1 (if available)
TreeFam:
Gene Tree for GPIHBP1 (if available)

Paralogs for GPIHBP1 Gene

No data available for Paralogs for GPIHBP1 Gene

Variants for GPIHBP1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GPIHBP1 Gene

Q8IV16-HDBP1_HUMAN
The missense variant Arg-56 may be associated with severe hypertriglyceridemia and chylomicronemia.

Sequence variations from dbSNP and Humsavar for GPIHBP1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs11538389 - 143,213,308(+) GCTGT(G/T)CGGGC reference, missense
VAR_044504 -
VAR_058086 Hyperlipoproteinemia 1D (HLPP1D)
VAR_071881 Hyperlipoproteinemia 1D (HLPP1D)
VAR_071882 Hyperlipoproteinemia 1D (HLPP1D)

Structural Variations from Database of Genomic Variants (DGV) for GPIHBP1 Gene

Variant ID Type Subtype PubMed ID
nsv891654 CNV Loss 21882294
dgv7920n71 CNV Loss 21882294
nsv891656 CNV Gain 21882294
nsv465992 CNV Loss 19166990
dgv7921n71 CNV Loss 21882294
nsv6438 CNV Insertion 18451855
nsv41 CNV Insertion 15895083
nsv891660 CNV Loss 21882294
esv7219 OTHER Inversion 19470904
esv2737971 CNV Deletion 23290073
dgv1288e201 CNV Deletion 23290073
esv2740781 CNV Deletion 23290073
esv989196 CNV Deletion 20482838
esv1226398 CNV Deletion 17803354
esv2737972 CNV Deletion 23290073

Variation tolerance for GPIHBP1 Gene

Residual Variation Intolerance Score: 85.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.03; 84.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPIHBP1 Gene

HapMap Linkage Disequilibrium report
GPIHBP1
Human Gene Mutation Database (HGMD)
GPIHBP1

Disorders for GPIHBP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GPIHBP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyperlipoproteinemia, type 1d
  • hyperlipoproteinemia 1d
familial lipoprotein lipase deficiency
  • familial hyperchylomicronemia
hyperchylomicronemia, late-onset
  • hyperlipidemia, familial combined
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HDBP1_HUMAN
  • Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947]: An autosomal recessive disorder characterized by hyperlipoproteinemia, decreased plasma LPL levels in some patients, high plasma triglyceride levels, and refractory fasting chylomicronemia. {ECO:0000269 PubMed:19304573, ECO:0000269 PubMed:20026666, ECO:0000269 PubMed:21816778}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GPIHBP1

Human Genome Epidemiology (HuGE) Navigator
GPIHBP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GPIHBP1
genes like me logo Genes that share disorders with GPIHBP1: view

No data available for Genatlas for GPIHBP1 Gene

Publications for GPIHBP1 Gene

  1. Homozygous missense mutation (G56R) in glycosylphosphatidylinositol- anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650). (PMID: 17883852) Wang J. … Hegele R.A. (Lipids Health Dis. 2007) 2 3 4 67
  2. GPIHBP1: an endothelial cell molecule important for the lipolytic processing of chylomicrons. (PMID: 17620854) Young S.G. … Beigneux A.P. (Curr. Opin. Lipidol. 2007) 2 3
  3. Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons. (PMID: 17403372) Beigneux A.P. … Young S.G. (Cell Metab. 2007) 2 3
  4. GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding. (PMID: 25387803) Beigneux A.P. … Young S.G. (Circ. Res. 2015) 3
  5. Evidence for Two Distinct Binding Sites for Lipoprotein Lipase on Glycosylphosphatidylinositol-anchored High Density Lipoprotein-binding Protein 1 (GPIHBP1). (PMID: 25873395) Reimund M. … Lookene A. (J. Biol. Chem. 2015) 3

Products for GPIHBP1 Gene

Sources for GPIHBP1 Gene

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