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  2. GPIHBP1 - glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 Gene

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

GPIHBP1 Protein Structure

UPAR_LY6

UPAR_LY6: u-PAR/Ly-6 domain (65 - 137)

  • 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

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

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