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GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 [ Homo sapiens (human) ]

Gene ID: 338328, updated on 12-May-2019

Summary

Official Symbol
GPIHBP1provided by HGNC
Official Full Name
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1provided by HGNC
Primary source
HGNC:HGNC:24945
See related
Ensembl:ENSG00000277494 MIM:612757
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HYPL1D; GPI-HBP1
Summary
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]
Expression
Biased expression in fat (RPKM 74.5), lung (RPKM 16.0) and 2 other tissues See more
Orthologs

Genomic context

See GPIHBP1 in Genome Data Viewer
Location:
8q24.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (143213193..143217170)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144295068..144299044)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene lymphocyte antigen 6 family member H Neighboring gene uncharacterized LOC107986906 Neighboring gene ZFP41 zinc finger protein Neighboring gene GLI family zinc finger 4

Genomic regions, transcripts, and products

Expression

  • Project title: 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
    Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
    Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Post-translational modification: synthesis of GPI-anchored proteins, organism-specific biosystem (from REACTOME)
    Post-translational modification: synthesis of GPI-anchored proteins, organism-specific biosystemGlycosylphosphatidyl inositol (GPI) acts as a membrane anchor for many cell surface proteins. GPI is synthesized in the endoplasmic reticulum. In humans, a single pathway consisting of eleven reactio...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Retinoid metabolism and transport, organism-specific biosystem (from REACTOME)
    Retinoid metabolism and transport, organism-specific biosystemVitamin A (all-trans-retinol) must be taken up, either as carotenes from plants, or as retinyl esters from animal food. The most prominent carotenes are alpha-carotene, lycopene, lutein, beta-cryptox...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chylomicron binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chylomicron binding IDA
Inferred from Direct Assay
more info
PubMed 
lipase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipase binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
lipoprotein particle binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
chylomicron remodeling TAS
Traceable Author Statement
more info
 
intracellular protein transport ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of chylomicron remnant clearance ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of lipoprotein lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of lipoprotein lipase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein localization to cell surface ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein stabilization ISS
Inferred from Sequence or Structural Similarity
more info
 
protein transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of lipoprotein lipase activity TAS
Traceable Author Statement
more info
 
response to heparin IMP
Inferred from Mutant Phenotype
more info
PubMed 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
transcytosis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
triglyceride homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
anchored component of external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
anchored component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1
Names
GPI anchored high density lipoprotein binding protein 1
GPI-anchored HDL-binding protein 1
endothelial cell LPL transporter

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_034256.1 RefSeqGene

    Range
    5001..8978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301772.1NP_001288701.1  glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 3' UTR and 3' CDS, compared to variant 1. The encoded isoform (2) has a shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AC231965, BC035810, HY047963
    UniProtKB/Swiss-Prot
    Q8IV16
    Conserved Domains (1) summary
    cl10471
    Location:63124
    LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...
  2. NM_178172.6NP_835466.2  glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_835466.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript (1) and encodes the longer isoform (1).
    Source sequence(s)
    BC035810, BC063857
    Consensus CDS
    CCDS34954.1
    UniProtKB/Swiss-Prot
    Q8IV16
    Related
    ENSP00000480053.1, ENST00000622500.2
    Conserved Domains (1) summary
    cd00117
    Location:63139
    LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    143213193..143217170
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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