Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	338328
Gene name	Glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
Gene symbol	GPIHBP1
Synonyms (NCBI Gene)	GPI-HBP1HYPL1D
Chromosome	8
Chromosome location	8q24.3
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) f

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs145844329	G>A,C	Pathogenic-likely-pathogenic, likely-benign	Coding sequence variant, missense variant, intron variant
rs587777637	A>C	Pathogenic	Missense variant, coding sequence variant
rs587777638	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587777639	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs587777640	G>T	Pathogenic	Missense variant, coding sequence variant
rs587777641	A>C	Pathogenic	Missense variant, coding sequence variant
rs587777642	ACCCTGGCAAAGCTCCC>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs587777643	C>G	Pathogenic	Missense variant, coding sequence variant

133

Show/Hide all (133)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017452	hsa-miR-335-5p	Microarray	18185580
MIRT458115	hsa-miR-8080	PAR-CLIP	23592263
MIRT458114	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT458113	hsa-miR-1197	PAR-CLIP	23592263
MIRT458112	hsa-miR-4434	PAR-CLIP	23592263
MIRT458111	hsa-miR-4516	PAR-CLIP	23592263
MIRT458110	hsa-miR-5703	PAR-CLIP	23592263
MIRT458109	hsa-miR-8071	PAR-CLIP	23592263
MIRT458108	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT458107	hsa-miR-3165	PAR-CLIP	23592263
MIRT458106	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT458105	hsa-miR-1178-3p	PAR-CLIP	23592263
MIRT458104	hsa-miR-4531	PAR-CLIP	23592263
MIRT458115	hsa-miR-8080	PAR-CLIP	23592263
MIRT458114	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT458113	hsa-miR-1197	PAR-CLIP	23592263
MIRT458112	hsa-miR-4434	PAR-CLIP	23592263
MIRT458111	hsa-miR-4516	PAR-CLIP	23592263
MIRT458110	hsa-miR-5703	PAR-CLIP	23592263
MIRT458109	hsa-miR-8071	PAR-CLIP	23592263
MIRT458108	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT458107	hsa-miR-3165	PAR-CLIP	23592263
MIRT458106	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT458105	hsa-miR-1178-3p	PAR-CLIP	23592263
MIRT458104	hsa-miR-4531	PAR-CLIP	23592263
MIRT1029471	hsa-miR-138	CLIP-seq
MIRT1029472	hsa-miR-1909	CLIP-seq
MIRT1029473	hsa-miR-1913	CLIP-seq
MIRT1029474	hsa-miR-3136-3p	CLIP-seq
MIRT1029475	hsa-miR-3152-5p	CLIP-seq
MIRT1029476	hsa-miR-3160-3p	CLIP-seq
MIRT1029477	hsa-miR-320a	CLIP-seq
MIRT1029478	hsa-miR-320b	CLIP-seq
MIRT1029479	hsa-miR-320c	CLIP-seq
MIRT1029480	hsa-miR-320d	CLIP-seq
MIRT1029481	hsa-miR-320e	CLIP-seq
MIRT1029482	hsa-miR-324-3p	CLIP-seq
MIRT1029483	hsa-miR-361-3p	CLIP-seq
MIRT1029484	hsa-miR-3691-3p	CLIP-seq
MIRT1029485	hsa-miR-3943	CLIP-seq
MIRT1029486	hsa-miR-4292	CLIP-seq
MIRT1029487	hsa-miR-4308	CLIP-seq
MIRT1029488	hsa-miR-4313	CLIP-seq
MIRT1029489	hsa-miR-4429	CLIP-seq
MIRT1029490	hsa-miR-4436b-3p	CLIP-seq
MIRT1029491	hsa-miR-4459	CLIP-seq
MIRT1029492	hsa-miR-4487	CLIP-seq
MIRT1029493	hsa-miR-4663	CLIP-seq
MIRT1029494	hsa-miR-4688	CLIP-seq
MIRT1029495	hsa-miR-4697-3p	CLIP-seq
MIRT1029496	hsa-miR-4722-5p	CLIP-seq
MIRT1029497	hsa-miR-4727-5p	CLIP-seq
MIRT1029498	hsa-miR-4749-3p	CLIP-seq
MIRT1029499	hsa-miR-4761-3p	CLIP-seq
MIRT1029500	hsa-miR-4774-3p	CLIP-seq
MIRT1029501	hsa-miR-4779	CLIP-seq
MIRT1029502	hsa-miR-486-3p	CLIP-seq
MIRT1029503	hsa-miR-548q	CLIP-seq
MIRT1029504	hsa-miR-558	CLIP-seq
MIRT1029505	hsa-miR-663b	CLIP-seq
MIRT2005415	hsa-miR-1470	CLIP-seq
MIRT1029472	hsa-miR-1909	CLIP-seq
MIRT2005416	hsa-miR-214	CLIP-seq
MIRT2005417	hsa-miR-3157-3p	CLIP-seq
MIRT1029476	hsa-miR-3160-3p	CLIP-seq
MIRT2005418	hsa-miR-3619-5p	CLIP-seq
MIRT2005419	hsa-miR-421	CLIP-seq
MIRT2005420	hsa-miR-4271	CLIP-seq
MIRT1029491	hsa-miR-4459	CLIP-seq
MIRT1029492	hsa-miR-4487	CLIP-seq
MIRT1029493	hsa-miR-4663	CLIP-seq
MIRT1029494	hsa-miR-4688	CLIP-seq
MIRT1029495	hsa-miR-4697-3p	CLIP-seq
MIRT1029496	hsa-miR-4722-5p	CLIP-seq
MIRT2005421	hsa-miR-4725-3p	CLIP-seq
MIRT2005422	hsa-miR-4747-5p	CLIP-seq
MIRT1029498	hsa-miR-4749-3p	CLIP-seq
MIRT1029501	hsa-miR-4779	CLIP-seq
MIRT1029502	hsa-miR-486-3p	CLIP-seq
MIRT1029504	hsa-miR-558	CLIP-seq
MIRT1029505	hsa-miR-663b	CLIP-seq
MIRT2005423	hsa-miR-761	CLIP-seq
MIRT2005424	hsa-miR-922	CLIP-seq
MIRT2238091	hsa-let-7a	CLIP-seq
MIRT2238092	hsa-let-7b	CLIP-seq
MIRT2238093	hsa-let-7c	CLIP-seq
MIRT2238094	hsa-let-7d	CLIP-seq
MIRT2238095	hsa-let-7e	CLIP-seq
MIRT2238096	hsa-let-7f	CLIP-seq
MIRT2238097	hsa-let-7g	CLIP-seq
MIRT2238098	hsa-let-7i	CLIP-seq
MIRT2238099	hsa-miR-125a-5p	CLIP-seq
MIRT2238100	hsa-miR-125b	CLIP-seq
MIRT2238101	hsa-miR-202	CLIP-seq
MIRT2238102	hsa-miR-2467-5p	CLIP-seq
MIRT2238103	hsa-miR-3144-5p	CLIP-seq
MIRT2238104	hsa-miR-3148	CLIP-seq
MIRT2238105	hsa-miR-3188	CLIP-seq
MIRT2238106	hsa-miR-3652	CLIP-seq
MIRT2238107	hsa-miR-3936	CLIP-seq
MIRT2238108	hsa-miR-3975	CLIP-seq
MIRT2005420	hsa-miR-4271	CLIP-seq
MIRT2238109	hsa-miR-4319	CLIP-seq
MIRT2238110	hsa-miR-4430	CLIP-seq
MIRT2238111	hsa-miR-4458	CLIP-seq
MIRT2238112	hsa-miR-4500	CLIP-seq
MIRT2238113	hsa-miR-4667-5p	CLIP-seq
MIRT2238114	hsa-miR-4700-5p	CLIP-seq
MIRT2005421	hsa-miR-4725-3p	CLIP-seq
MIRT2238115	hsa-miR-4725-5p	CLIP-seq
MIRT2238116	hsa-miR-4726-3p	CLIP-seq
MIRT2005422	hsa-miR-4747-5p	CLIP-seq
MIRT2238117	hsa-miR-485-5p	CLIP-seq
MIRT2238118	hsa-miR-504	CLIP-seq
MIRT2238119	hsa-miR-544b	CLIP-seq
MIRT2238120	hsa-miR-875-3p	CLIP-seq
MIRT2238121	hsa-miR-98	CLIP-seq
MIRT2005415	hsa-miR-1470	CLIP-seq
MIRT1029485	hsa-miR-3943	CLIP-seq
MIRT1029498	hsa-miR-4749-3p	CLIP-seq
MIRT2450545	hsa-miR-3937	CLIP-seq
MIRT2450546	hsa-miR-3938	CLIP-seq
MIRT2450547	hsa-miR-4678	CLIP-seq
MIRT2542035	hsa-miR-298	CLIP-seq
MIRT2542036	hsa-miR-3173-3p	CLIP-seq
MIRT2542037	hsa-miR-370	CLIP-seq
MIRT2542038	hsa-miR-4428	CLIP-seq
MIRT2542039	hsa-miR-4476	CLIP-seq
MIRT2542040	hsa-miR-4530	CLIP-seq
MIRT2542041	hsa-miR-4533	CLIP-seq
MIRT2542042	hsa-miR-4763-5p	CLIP-seq
MIRT2542043	hsa-miR-626	CLIP-seq
MIRT2005424	hsa-miR-922	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20124439, 30559189, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006886	Process	Intracellular protein transport	ISS	20620994
GO:0008289	Function	Lipid binding	IEA
GO:0009897	Component	External side of plasma membrane	IDA	17997385, 20124439
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS	20620994
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS	20620994
GO:0017038	Process	Protein import	ISS	20620994
GO:0019433	Process	Triglyceride catabolic process	IDA	30559189
GO:0034394	Process	Protein localization to cell surface	ISS	20620994
GO:0035473	Function	Lipase binding	IBA
GO:0035473	Function	Lipase binding	IPI	20124439, 29899144
GO:0035478	Function	Chylomicron binding	IBA
GO:0035478	Function	Chylomicron binding	IDA	19304573
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0045056	Process	Transcytosis	ISS	20620994
GO:0045723	Process	Positive regulation of fatty acid biosynthetic process	IDA	29899144
GO:0050821	Process	Protein stabilization	IDA	29899144
GO:0050821	Process	Protein stabilization	ISS
GO:0060230	Function	Lipoprotein lipase activator activity	IDA	29899144
GO:0060230	Function	Lipoprotein lipase activator activity	IMP	20124439
GO:0070328	Process	Triglyceride homeostasis	IBA
GO:0070328	Process	Triglyceride homeostasis	IMP	20124439
GO:0070328	Process	Triglyceride homeostasis	NAS	30559189
GO:0071503	Process	Response to heparin	IMP	20124439
GO:0071813	Function	Lipoprotein particle binding	IDA	17997385
GO:0090319	Process	Positive regulation of chylomicron remodeling	ISS	17403372
GO:0090321	Process	Positive regulation of chylomicron remnant clearance	ISS
GO:0098552	Component	Side of membrane	IEA
GO:0140318	Function	Protein transporter activity	ISS	20620994
GO:1902494	Component	Catalytic complex	IPI	30559189

MIM	HGNC	e!Ensembl
612757	24945	ENSG00000277494

Q8IV16

Protein name

Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPI-HBP1) (GPI-anchored HDL-binding protein 1) (High density lipoprotein-binding protein 1)

Protein function

Mediates the transport of lipoprotein lipase LPL from the basolateral to the apical surface of endothelial cells in capillaries (By similarity). Anchors LPL on the surface of endothelial cells in the lumen of blood capillaries (By similarity). P

PDB

6E7K , 6OAU , 6OAZ , 6OB0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00021	UPAR_LY6	65 → 137	u-PAR/Ly-6 domain	Domain

Sequence

MKALGAVLLALLLCGRPGRGQTQQEEEEEDEDHGPDDYDEEDEDEVEEEETNRLPGGRSR
VLLRCYTCKSLPRDERCNLTQNCSHGQTCTTLIAHGNTESGLLTTHSTWCTDSCQPITKT
VEGTQVTMTCCQSSLCNVPPWQSSRVQDPTGKGAGGPRGSSETVGAALLLNLLAGLGAMG
ARRP

Sequence length

184

Interactions

View interactions

	Reactome
			Post-translational modification: synthesis of GPI-anchored proteins Assembly of active LPL and LIPC lipase complexes Chylomicron remodeling Retinoid metabolism and transport

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiovascular phenotype	Pathogenic	rs776388699	RCV005841985	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperlipoproteinemia, type 1D	Likely pathogenic; Pathogenic	rs752728823, rs587777637, rs587777638, rs587777639, rs587777640, rs587777641, rs587777642, rs587777643, rs2130672651, rs1300685456, rs2488909361, rs780340378, rs1284611659	RCV001333096 RCV000133522 RCV000133523 RCV000133524 RCV000133526 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperlipoproteinemia, type I	Pathogenic	rs587777638	RCV004576921	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CEREBRAL ATHEROSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GPIHBP1-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA, TYPE ID	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (38)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute pancreatitis	Pancreatitis	BEFREE	29921298, 31570698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute recurrent pancreatitis	Pancreatitis	BEFREE	26892125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30232292, 30721842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23831619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30232292, 30721842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31182966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29246728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	CLINVAR_DG	19304573, 20124439, 21816778, 24614124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24614124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	24614124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29174344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	23831619, 29174344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	23831619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29174344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	25463481, 30721842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25463481, 30721842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30408040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial GPIHBP1 deficiency	GPIHBP1 Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31169500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	24646025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	24646025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	20026666, 21816778, 23831619, 24291057, 24847059, 25387803, 25499947, 26892125, 27578123, 29452893		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	Pubtator	22008945, 23831619, 24847059, 26079787, 29288010, 29748148, 32375710, 36978188	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA, TYPE ID	Hyperlipoproteinemia	UNIPROT_DG	19304573, 20026666, 21314738, 21816778, 22239554, 23831619, 25387803, 27578123		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA, TYPE ID	Hyperlipoproteinemia	CLINVAR_DG	19304573, 20124439, 21816778, 24614124		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA, TYPE ID	Hyperlipoproteinemia	ORPHANET_DG	25732519, 29980054		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA, TYPE ID	Hyperlipoproteinemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA, TYPE ID	Hyperlipoproteinemia	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemias	Hyperlipoproteinemia	BEFREE	17883852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	22008945, 23831619, 24614124, 24847059, 26079787, 29910226, 29921298, 30885219, 32115487, 36613909, 37981531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29246728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29056530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	26079787, 30352774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	26079787, 32375710, 35770288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	17883852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent pancreatitis	Pancreatitis	BEFREE	17883852		★★★★★ ★☆☆☆☆ Found in Text Mining only

GPIHBP1 (glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1)