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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
  • Glycosylphosphatidylinositol-Anchored High Density Lipoprotein-Binding Protein 1 3
  • 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 Recurrent Acute Pancreatitis. Among its related pathways are Metabolism of fat-soluble vitamins and Post-translational modification- synthesis of GPI-anchored proteins. 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 CIViC summary , 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

Enhancers for GPIHBP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G143217 1.7 FANTOM5 Ensembl ENCODE 14.5 +6.7 6681 3.8 HDGF PKNOX1 CREB3L1 ARNT SIN3A ZBTB7B ZNF766 ZNF143 FOS KLF13 GPIHBP1 TOP1MT LY6H MAFA GC08P143216 ZFP41
GH08G143210 1 Ensembl 14.5 -1.7 -1667 2.7 ATF1 PKNOX1 ARNT SIN3A YY1 GATA2 ELK1 ZNF143 NFYC NCOA1 GPIHBP1 TOP1MT MINCR LY6H
GH08G143108 0.8 FANTOM5 12.2 -104.7 -104686 0.4 SIN3A YY1 HIC1 CTBP1 ZFHX2 FOSL2 FOS EGR2 ZNF687 MAZ C8orf31 GPIHBP1 SLURP1 GML LY6L LY6H
GH08G142731 1.3 FANTOM5 Ensembl ENCODE 5.7 -481.0 -481047 1.5 CTCF HDGF GTF2F1 PKNOX1 ESRRA SIN3A YBX1 GATA3 CTBP1 RELB LY6K SLURP1 THEM6 ENSG00000253715 LY6D GPIHBP1 LYNX1 PIR37820 ENSG00000253806
GH08G142814 1.6 FANTOM5 Ensembl ENCODE 4.4 -397.5 -397495 2.8 HDGF PKNOX1 SIN3A YBX1 ZBTB7B ZNF121 GLIS2 ELK1 ZNF207 ZNF143 LYNX1 JRK LY6D ZNF696 TIGD5 ZNF623 LOC101928087 GPIHBP1 LY6E GLI4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GPIHBP1 on UCSC Golden Path with GeneCards custom track

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:
    • Mostly monomer, but also homodimer and homooligomer (PubMed:25387803). Interacts with high affinity with high-density lipoprotein (HDL) (By similarity). Only monomer interacts with lipoprotein lipase (LPL) (PubMed:25387803, PubMed:17997385). Interacts with chylomicrons and APOA5 (PubMed:17997385).

neXtProt entry for GPIHBP1 Gene

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 isoforms=78
  • Modification sites at PhosphoSitePlus

Other Protein References for GPIHBP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

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

No data available for UniProtKB/Swiss-Prot for GPIHBP1 Gene

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:0008289 lipid binding IEA --
GO:0008320 protein transmembrane transporter activity ISS 20620994
GO:0035473 lipase binding IPI 20124439
GO:0035478 chylomicron binding IDA 19304573
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

Inhibitory RNA Products

Clone 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
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 GPIHBP1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
peroxisome 1

Gene Ontology (GO) - Cellular Components for GPIHBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IDA 20124439
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with GPIHBP1: view

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:0001523 retinoid metabolic process TAS --
GO:0006501 C-terminal protein lipidation TAS --
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0006886 intracellular protein transport ISS 20620994
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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of GPIHBP1 Gene:

GPIHBP1

SOURCE GeneReport for Unigene cluster for GPIHBP1 Gene:

Hs.426410

Evidence on tissue expression from TISSUES for GPIHBP1 Gene

  • Nervous system(4.1)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GPIHBP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with GPIHBP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34
  • 92.17 (n)
dog
(Canis familiaris)
Mammalia GPIHBP1 34
  • 72.92 (n)
cow
(Bos Taurus)
Mammalia GPIHBP1 34
  • 70.98 (n)
Species where no ortholog for GPIHBP1 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)
  • 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

HDBP1_HUMAN-Q8IV16
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
rs145844329 Pathogenic, Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] 143,215,486(+) TTGCC(A/C/G)GCCTT intron-variant, reference, missense
rs587777637 Pathogenic, Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] 143,215,307(+) CTGCC(A/C)GCCCA reference, missense
rs587777638 Pathogenic, Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947], Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] 143,215,025(+) GCGGT(A/C/G)CTACA reference, missense
rs587777639 Pathogenic, Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] 143,215,033(+) ACACC(G/T)GCAAG reference, missense
rs587777640 Pathogenic, Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] 143,215,097(+) GACCT(G/T)CACAA reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1236e201 CNV deletion 23290073
dgv12405n54 CNV gain+loss 21841781
dgv12406n54 CNV gain 21841781
dgv12407n54 CNV loss 21841781
dgv12408n54 CNV loss 21841781
dgv476e215 CNV deletion 23714750
esv1226398 CNV deletion 17803354
esv2737971 CNV deletion 23290073
esv2737972 CNV deletion 23290073
esv2740781 CNV deletion 23290073
esv7219 OTHER inversion 19470904
esv989196 CNV deletion 20482838
nsv1120171 OTHER inversion 24896259
nsv1140946 CNV deletion 24896259
nsv41 CNV insertion 15895083
nsv465992 CNV loss 19166990
nsv612726 CNV loss 21841781
nsv612728 CNV loss 21841781
nsv612729 CNV loss 21841781
nsv612731 CNV loss 21841781
nsv612743 CNV loss 21841781
nsv612751 CNV gain 21841781
nsv612764 CNV loss 21841781
nsv6438 CNV insertion 18451855
nsv950009 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
GPIHBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPIHBP1

Disorders for GPIHBP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hyperlipoproteinemia, type 1d
  • hyperlipoproteinemia type 1d
recurrent acute pancreatitis
  • acute recurrent pancreatitis
familial lipoprotein lipase deficiency
  • lipoprotein lipase deficiency
- 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:21314738, ECO:0000269 PubMed:21816778, ECO:0000269 PubMed:22239554, ECO:0000269 PubMed:23831619, ECO:0000269 PubMed:25387803, ECO:0000269 PubMed:27578123}. 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 64
  2. 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 4 64
  3. Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD. (PMID: 23831619) Yamamoto H. … Kihara S. (J. Atheroscler. Thromb. 2013) 3 4 64
  4. Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. (PMID: 22239554) Surendran R.P. … Dallinga-Thie G.M. (J. Intern. Med. 2012) 3 4 64
  5. Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation. (PMID: 21314738) Coca-Prieto I. … Valdivielso P. (J. Intern. Med. 2011) 3 4 64

Products for GPIHBP1 Gene

Sources for GPIHBP1 Gene

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