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

    Gene ID: 338328, updated on 8-Jul-2021

    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
    NEW
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    Genomic context

    See GPIHBP1 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (143213218..143217170)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144295093..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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

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    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
      5026..8978
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301772.2NP_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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      143213218..143217170
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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