GPIHBP1 - glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 Gene

Also Known as HYPL1D; GPI-HBP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 338328

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	Referencias	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	Referencias	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	Referencias	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
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

Referencia número	Nombre del producto	Accession	Pureza
HY-P70873	GPIHBP1 Protein, Human (HEK293, Fc)	Q8IV16 (T22-G151)	≥ 95%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (5)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-P2752A	Lipoprotein Lipase, Bovine		/	Unkown
HY-P2752B	Lipoprotein Lipase, Burkholderia sp.		/	Unkown
HY-RS05640	GPIHBP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19542	Gpihbp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26038	Gpihbp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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