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

    Gene ID: 338328, updated on 12-Mar-2017
    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; Vega:OTTHUMG00000164950
    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]
    Orthologs
    Location:
    8q24.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chylomicron binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    high-density lipoprotein particle binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    C-terminal protein lipidation TAS
    Traceable Author Statement
    more info
     
    cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    lipid transport IEA
    Inferred from Electronic Annotation
    more info
     
    lipoprotein metabolic process TAS
    Traceable Author Statement
    more info
     
    positive regulation of chylomicron remnant clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
     
    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 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 
    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
     
    high-density lipoprotein particle IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    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

    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_178172.5NP_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, OTTHUMP00000276108, ENST00000622500, OTTHUMT00000381113
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      144335309..144339286
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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