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

Gene ID: 338328, updated on 24-Nov-2020

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
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (143213218..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 Functions

What's a GeneRIF?

Pathways from PubChem

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 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 IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
PubMed 
protein stabilization ISS
Inferred from Sequence or Structural Similarity
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
 
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
    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 109.20201120

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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