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

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; AllianceGenome:HGNC:24945
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: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (143213218..143217170)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (144358507..144362402)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (144295093..144299044)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene.
Title: Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene.
The lipoprotein lipase that is shuttled into capillaries by GPIHBP1 enters the glycocalyx where it mediates lipoprotein processing.
Title: The lipoprotein lipase that is shuttled into capillaries by GPIHBP1 enters the glycocalyx where it mediates lipoprotein processing.
A protein of capillary endothelial cells, GPIHBP1, is crucial for plasma triglyceride metabolism.
Title: A protein of capillary endothelial cells, GPIHBP1, is crucial for plasma triglyceride metabolism.
Circulating GPIHBP1 levels and microvascular complications in patients with type 2 diabetes: A cross-sectional study.
Title: Circulating GPIHBP1 levels and microvascular complications in patients with type 2 diabetes: A cross-sectional study.
Chylomicronemia from GPIHBP1 autoantibodies.
Title: Chylomicronemia from GPIHBP1 autoantibodies.
A novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases.
Title: A novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases.
Changes in serum levels of angiopoietin-like protein-8 and glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1 after ezetimibe therapy in patients with dyslipidemia.
Title: Changes in serum levels of angiopoietin-like protein-8 and glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1 after ezetimibe therapy in patients with dyslipidemia.
The antagonic behavior of GPIHBP1 between EAT and circulation does not reflect lipolytic enzymes levels in the tissue and serum from coronary patients.
Title: The antagonic behavior of GPIHBP1 between EAT and circulation does not reflect lipolytic enzymes levels in the tissue and serum from coronary patients.
Regulation of lipoprotein lipase-mediated lipolysis of triglycerides.
Title: Regulation of lipoprotein lipase-mediated lipolysis of triglycerides.
A lipoprotein lipase-GPI-anchored high-density lipoprotein-binding protein 1 fusion lowers triglycerides in mice: Implications for managing familial chylomicronemia syndrome.
Title: A lipoprotein lipase-GPI-anchored high-density lipoprotein-binding protein 1 fusion lowers triglycerides in mice: Implications for managing familial chylomicronemia syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hyperlipoproteinemia, type 1D MedGen: C4014767 OMIM: 615947 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chylomicron binding	IBA Inferred from Biological aspect of Ancestor more info
enables chylomicron binding	IDA Inferred from Direct Assay more info	PubMed
enables lipase binding	IBA Inferred from Biological aspect of Ancestor more info
enables lipase binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables lipoprotein lipase activator activity	IDA Inferred from Direct Assay more info	PubMed
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	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 catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in triglyceride homeostasis	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
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
part_of catalytic complex	IPI Inferred from Physical Interaction 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
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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

NG_034256.1 RefSeqGene

Range

5026..8978

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001301772.2 → NP_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:63 → 124

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 ...
NM_178172.6 → NP_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

Q6P3T2, Q86W15, Q8IV16

Related

ENSP00000480053.1, ENST00000622500.2

Conserved Domains (1) summary

cd00117
Location:63 → 139

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 ...