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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 Id and Familial Lipoprotein Lipase Deficiency. Among its related pathways are Lipoprotein metabolism and Metabolism. Gene Ontology (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).

Additional gene information for GPIHBP1 Gene

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

GeneHancer (GH) Regulatory Elements for GPIHBP1 Gene

Promoters and enhancers for GPIHBP1 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
GH08J143210 Enhancer 0.6 Ensembl 664.5 -1.7 -1666 2.7 KLF1 ZNF740 BHLHE40 ZNF148 FOSL1 ZFHX2 NFIC VEZF1 ZNF341 ZNF600 GPIHBP1 TOP1MT MINCR LY6H
GH08J143213 Promoter 0.5 EPDnew 650.7 +0.0 6 0.1 GPIHBP1 GC08P143216
GH08J143217 Enhancer 1.5 FANTOM5 Ensembl ENCODE 14.5 +6.7 6680 3.8 HDGF PKNOX1 ATF1 ARNT SIN3A ZBTB7B TCF12 POLR2B ZNF766 ZNF143 GPIHBP1 ZNF623 ZNF707 TSNARE1 GLI4 GPAA1 JRK TOP1MT LY6H MAFA
GH08J143208 Enhancer 0.5 Ensembl 14.3 -4.2 -4192 0.4 SP1 EGR1 MAX EZH2 NR2F2 GPIHBP1 TOP1MT LY6H
GH08J142731 Enhancer 1.1 FANTOM5 Ensembl ENCODE 5.7 -481.0 -481046 1.5 HDGF TRIM22 YBX1 NR2F2 TARDBP IKZF1 ZNF512 NBN MLLT1 IKZF2 LY6K SLURP1 THEM6 ENSG00000253715 LY6D GPIHBP1 LYNX1 ENSG00000253806 PIR37820
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPIHBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GPIHBP1 gene promoter:
  • Pax-5
  • GATA-2
  • MEF-2A
  • aMEF-2
  • Ik-3
  • NF-1/L
  • NF-1
  • C/EBPalpha
  • CHOP-10
  • Lmo2

Genomic Locations for GPIHBP1 Gene

Genomic Locations for GPIHBP1 Gene
chr8:143,213,193-143,217,170
(GRCh38/hg38)
Size:
3,978 bases
Orientation:
Plus strand
chr8:144,295,068-144,299,044
(GRCh37/hg19)
Size:
3,977 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:

Antibody Products

  • Abcam antibodies for GPIHBP1
  • Boster Bio Antibodies for GPIHBP1

No data available for DME Specific Peptides for GPIHBP1 Gene

Domains & Families for GPIHBP1 Gene

Gene Families for GPIHBP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for GPIHBP1 Gene

Blocks:
InterPro:
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:0008289 lipid binding IEA --
GO:0008320 protein transmembrane transporter activity ISS 20620994
GO:0035473 lipase binding IPI 20124439
GO:0035478 chylomicron binding IDA 19304573
GO:0071813 lipoprotein particle binding IDA 17997385
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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:0016020 membrane IEA,IBA --
genes like me logo Genes that share ontologies with GPIHBP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0001523 retinoid metabolic process TAS --
GO:0006501 C-terminal protein lipidation TAS --
GO:0006886 intracellular protein transport ISS 20620994
GO:0017038 protein import ISS 20620994
GO:0034371 chylomicron remodeling TAS --
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:

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
Regions:
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

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 33
  • 92.17 (n)
dog
(Canis familiaris)
Mammalia GPIHBP1 33
  • 72.92 (n)
cow
(Bos Taurus)
Mammalia GPIHBP1 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GPIHBP1: view image

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 Variation AA Info Type
rs145844329 pathogenic, Hyperlipoproteinemia, type ID, Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] 143,215,486(+) G/A/C coding_sequence_variant, intron_variant, missense_variant
rs587777637 pathogenic, Hyperlipoproteinemia, type ID, Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] 143,215,307(+) A/C coding_sequence_variant, missense_variant
rs587777638 pathogenic, Hyperlipoproteinemia, type ID, Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947], Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] 143,215,025(+) G/A/C coding_sequence_variant, missense_variant
rs587777639 pathogenic, Hyperlipoproteinemia, type ID, Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] 143,215,033(+) T/C/G coding_sequence_variant, missense_variant
rs587777640 pathogenic, Hyperlipoproteinemia, type ID, Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] 143,215,097(+) G/T coding_sequence_variant, missense_variant

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)

Additional Variant Information 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

(4) MalaCards diseases for GPIHBP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyperlipoproteinemia, type id
  • hyperlipoproteinemia, type 1d
familial lipoprotein lipase deficiency
  • lipoprotein lipase deficiency
apolipoprotein c-ii deficiency
  • hyperlipoproteinemia, type ib
recurrent acute pancreatitis
  • acute recurrent pancreatitis
- 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.

Additional Disease Information for 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 RA (Lipids in health and disease 2007) 2 3 4 58
  2. Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene. (PMID: 27578123) Rabacchi C … Tarugi P (Journal of clinical lipidology 2016) 3 4 58
  3. GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding. (PMID: 25387803) Beigneux AP … Young SG (Circulation research 2015) 3 4 58
  4. Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD. (PMID: 23831619) Yamamoto H … Kihara S (Journal of atherosclerosis and thrombosis 2013) 3 4 58
  5. Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. (PMID: 22239554) Surendran RP … Dallinga-Thie GM (Journal of internal medicine 2012) 3 4 58

Products for GPIHBP1 Gene

Sources for GPIHBP1 Gene

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