GPIHBP1 - glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 Gene

Homo sapiens

Also known as HYPL1D; GPI-HBP1

Gene ID: 338328 | Gene type: protein coding

About GPIHBP1

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:143,213,218-143,217,170 (from NCBI)

This gene has 1 transcript (splice variant), 88 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in fat (RPKM 74.5), lung (RPKM 16.0) and 2 other tissues.

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]

GPIHBP1 Products(2)

mRNA	Protein	Name
NM_001301772.2	NP_001288701.1	glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 isoform 2 precursor
NM_178172.6	NP_835466.2	glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables chylomicron binding	IDA IDA: Inferred from direct assay	19304573	GOA
enables lipase binding	IPI IPI: Inferred from physical interaction	20124439	GOA
enables lipoprotein lipase activator activity	IDA IDA: Inferred from direct assay	29899144	GOA
enables lipoprotein particle binding	IDA IDA: Inferred from direct assay	17997385	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20124439	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of lipoprotein lipase activity	IDA IDA: Inferred from direct assay	29899144	GOA
involved in positive regulation of lipoprotein lipase activity	IMP IMP: Inferred from mutant phenotype	20124439	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	29899144	GOA
involved in response to heparin	IMP IMP: Inferred from mutant phenotype	20124439	GOA
involved in triglyceride catabolic process	IDA IDA: Inferred from direct assay	30559189	GOA
involved in triglyceride homeostasis	IMP IMP: Inferred from mutant phenotype	20124439	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of catalytic complex	IPI IPI: Inferred from physical interaction	30559189	GOA
located in external side of plasma membrane	IDA IDA: Inferred from direct assay	17997385	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GPIHBP1 Protein Structure

UPAR_LY6

0
100
184 a.a.

Protein Preferred Names

Protein Names

glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1

GPI anchored high density lipoprotein binding protein 1

GPIHBP1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GPIHBP1	Q8IV16	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	GPIHBP1	Q8IV16	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	GPIHBP1	Q8IV16	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	GPIHBP1	Q8IV16	LPL	Homo sapiens	P06858	ELISA	30559189
Intra	GPIHBP1	Q8IV16	LPL	Homo sapiens	P06858	X-Ray Diffraction	30559189
Intra	GPIHBP1	Q8IV16	LPL	Homo sapiens	P06858	IF	30559189
Intra	GPIHBP1	Q8IV16	LPL	Homo sapiens	P06858	SAXS	30559189
Intra	GPIHBP1	Q8IV16	LPL	Homo sapiens	P06858	Comig Non-Denat Gel	30559189

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GPIHBP1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70873	GPIHBP1 Protein, Human (HEK293, Fc)	Q8IV16 (T22-G151)	≥95%

Related Diseases

Diseases

Alias

Hyperlipoproteinemia, Type Id

Hyperlipoproteinemia, Type 1d	Familial Gpihbp1 Deficiency
Familial Glycosylphosphatidylinositol-Anchored High Density Lipoprotein-Binding Protein 1 Deficiency	Hyperlipoproteinemia Type 1d
Hyperlipoproteinemia Type Id	Hyperlipoproteinemia 1d
HLPP1D

Hyperlipoproteinemia, Type I

Lipoprotein Lipase Deficiency	Familial Chylomicronemia Syndrome
Lpl Deficiency	Hyperchylomicronemia, Familial
Hyperlipemia, Idiopathic, Burger-Grutz Type	Hyperlipemia, Essential Familial
Lipase D Deficiency	Lipd Deficiency
Hyperlipoproteinemia, Type Ia	Chylomicronemia, Familial
High Density Lipoprotein Cholesterol Level Qtl 11	Hyperlipoproteinemia Type 1
Hyperlipoproteinemia 1	HLPP1
Lipoprotein Lipase	Hyperlipoproteinemia Type I
Familial Hyperchylomicronemia Syndrome

Familial Lipoprotein Lipase Deficiency

Familial Lpl Deficiency	Familial Hyperchylomicronemia
Hyperlipoproteinemia Type I	Familial Hyperlipoproteinemia Type I
Hyperchylomicronemia	Burger-Grutz Syndrome
Endogenous Hypertriglyceridaemia	Familial Fat-Induced Hypertriglyceridemia
Lipd Deficiency	Lpl Deficiency
Lipase D Deficiency	Lipoprotein Lipase Deficiency, Familial
Familial Chylomicronemia Syndrome	Fredrickson Type I Hyperlipoproteinemia
Fredrickson Type I Lipaemia	Hypercholesterinaemic Xanthomatosis
Mixed Hyperglyceridemia	Lipoprotein Lipase Deficiency
Type I Hyperlipoproteinemia	Hyperlipoproteinemia Type Ia
Familial Hyperlipo-Proteinemia Type 1

Hyperlipoproteinemia, Type Iv

Hyperlipoproteinemia Type Iv	Carbohydrate-Inducible Hyperlipemia
Endogenous Hyperlipidaemia	Familial Hypertriglyceridemia
Fredrickson Type Iv Hyperlipoproteinemia	Fredrickson Type Iv Lipidaemia
Fredrickson Type Iv Lipidemia	Vldl Hyperlipoproteinemia
Hyperlipoproteinemia Type 4	Carbohydrate Inducible Hyperlipemia
Familial Type Iv Hyperlipoproteinemia	Familial Hyperlipoproteinemia Type Iv

Familial Apolipoprotein C-Ii Deficiency

Familial Apoc-Ii Deficiency	Familial Apoc2 Deficiency
C-Ii Anapolipoproteinemia	Hyperlipoproteinemia, Type 1b
Hyperlipoproteinemia, Type Ib	Hyperlipoproteinemia Type I

Familial Hyperlipidemia

Familial Hyperlipoproteinemia	Hyperlipidaemia
Hyperlipoproteinemias	Hyperlipidemia
Hyperlipemia	Hyperlipidemias

Lipase Deficiency, Combined

Lipoprotein Lipase Deficiency With Hepatic Triglyceride Lipase Deficiency	Lpl And Htgl Deficiency
Lpl And Hl Deficiency	Familial Lipase Maturation Factor 1 Deficiency
Lipase Deficiency Combined	Combined Lipase Deficiency
Familial Lmf1 Deficiency	CLD

Mal De Meleda

Meleda Disease	Keratosis Palmoplantaris Transgrediens Of Siemens
MDM	Transgrediens Palmoplantar Keratoderma Of Siemens
Acroerythrokeratoderma	Keratosis Palmoplantaris Transgradiens Of Siemens

Hypobetalipoproteinemia, Familial, 1

Hypobetalipoproteinemia	Familial Hypobetalipoproteinemia 1
Familial Hypobetalipoproteinemia	FHBL1
Hypobetalipoproteinemia, Familial	Fhbl
Acanthocytosis With Hypobetalipoproteinemia	Hypobetalipoproteinemias
Hypobetalipoproteinemia, Normotriglyceridemic	Hypo-Beta-Lipoproteinemia
Hypobetalipoprotéinemia, Familial	Normotriglyceridemic Hypobetalipoproteinemia
Hypobetalipoproteinemia, Familial, Type 1

Hyperlipidemia, Familial Combined, 3

Familial Combined Hyperlipidemia	Combined Hyperlipidemia, Familial
Mixed Hyperlipidaemia	FCHL3
Hyperlipidemia, Familial Combined	Familial Multiple Lipoprotein-Type Hyperlipidemia
Hyperbetalipoproteinemia With Prebetalipoproteinemia	Type Iib Hyperlipoproteinemia
Hyperlipidemia Familial Combined	Hyperlipoproteinemia Type Iib
Mixed Hyperlipemia	Hyperlipidaemia, Group C
Familial Hypercholesterolaemia With Hyperlipaemia	Familial Hyperbetalipoproteinaemia And Hyperprebetalipoproteinaemia
Hyperbetalipoproteinaemia With Prebetalipoproteinaemia	Hypercholesterolaemia With Endogenous Hyperglyceridaemia
Prebetalipoproteinemia Hyperbetalipoproteinaemia	Remnant Hyperlipoproteinemia

Spinal Muscular Atrophy, Type Iii

SMA3	Juvenile Spinal Muscular Atrophy
Kugelberg-Welander Disease	Sma Iii
Kugelberg-Welander Syndrome	Kws
Muscular Atrophy, Juvenile	Spinal Muscular Atrophy, Mild Childhood And Adolescent Form
Spinal Muscular Atrophy-3	Spinal Muscular Atrophy Type 3
Spinal Muscular Atrophy, Type Iii, Modifier Of	Type Iii Spinal Muscular Atrophy
Sma 3	Proximal Spinal Muscular Atrophy Type 3
Sma Type 3	Sma Type Iii
Sma-Iii	Spinal Muscular Atrophy 3
Spinal Muscular Atrophy Mild Childhood And Adolescent Form	Spinal Muscular Atrophy Type Iii
Wohlfart-Kugelberg-Welander Disease	Atrophy, Muscular, Spinal, Type Iii

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05640	GPIHBP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GPIHBP1	VGNC	VGNC:104458
Rattus norvegicus	GPIHBP1	RGD	RGD:1564237
Mus musculus	GPIHBP1	MGD	MGI:1915703
Bos taurus	GPIHBP1	VGNC	VGNC:106756
Canis familiaris	GPIHBP1	VGNC	VGNC:41382
Others	GPIHBP1	NCBI

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