GPIHBP1 (glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1)

2014-11-01 Affiliation

Identity

HGNC

GPIHBP1

LOCATION

8q24.3

LOCUSID

338328

ALIAS

GPI-HBP1,HYPL1D

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 338328
MIM: 612757
HGNC: 24945
Ensembl: ENSG00000277494

Variants:

dbSNP: 338328
ClinVar: 338328
TCGA: ENSG00000277494
COSMIC: GPIHBP1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000277494	ENST00000622500	Q8IV16

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteins	REACTOME	R-HSA-163125
Signal Transduction	REACTOME	R-HSA-162582
Visual phototransduction	REACTOME	R-HSA-2187338
Retinoid metabolism and transport	REACTOME	R-HSA-975634
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Lipid digestion, mobilization, and transport	REACTOME	R-HSA-73923
Lipoprotein metabolism	REACTOME	R-HSA-174824
Chylomicron-mediated lipid transport	REACTOME	R-HSA-174800
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of fat-soluble vitamins	REACTOME	R-HSA-6806667

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19542565	2009	GPIHBP1 stabilizes lipoprotein lipase and prevents its inhibition by angiopoietin-like 3 and angiopoietin-like 4.	50
22239554	2012	Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.	46
26725083	2016	The acidic domain of the endothelial membrane protein GPIHBP1 stabilizes lipoprotein lipase activity by preventing unfolding of its catalytic domain.	34
21518912	2011	Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1.	28
25387803	2015	GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.	28
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	27
21478160	2011	Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase.	27
27929370	2016	The angiopoietin-like protein ANGPTL4 catalyzes unfolding of the hydrolase domain in lipoprotein lipase and the endothelial membrane protein GPIHBP1 counteracts this unfolding.	26
17997385	2007	Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution.	18
28534127	2017	Genetics of Triglycerides and the Risk of Atherosclerosis.	16

Citation

Dessen P

GPIHBP1 (glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63937/gpihbp1