• Gene id: 338328

Gene Summary

• Gene Symbol: GPIHBP1   Gene   UCSC   Ensembl
• Aliases: GPI-HBP1, HYPL1D
• Gene name: glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
• Alternate names: glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1, GPI anchored high density lipoprotein binding protein 1, GPI-anchored HDL-binding protein 1, endothelial cell LPL transporter,
• Gene location: 8q24.3 (24161264: 24166564)     Exons: 9     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 612757

Protein Summary

• Protein general information: Q8IV16  
  • Name: Glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPI HBP1) (GPI anchored HDL binding protein 1) (High density lipoprotein binding protein 1)
  • Length: 184  
  • Mass: 19806
• Sequence:

  MKALGAVLLALLLCGRPGRGQTQQEEEEEDEDHGPDDYDEEDEDEVEEEETNRLPGGRSRVLLRCYTCKSLPRDE
  RCNLTQNCSHGQTCTTLIAHGNTESGLLTTHSTWCTDSCQPITKTVEGTQVTMTCCQSSLCNVPPWQSSRVQDPT
  GKGAGGPRGSSETVGAALLLNLLAGLGAMGARRP

• Structural information:
  • Protein Domains: (63..14-)
    (/note="UPAR/Ly6"-)
  • Interpro: IPR016054  
  • PDB: 6E7K 6OAU 6OAZ 6OB0
  • PDBsum: 6E7K 6OAU 6OAZ 6OB0
  • STRING: ENSP00000480053
• Other Databases: GeneCards:  GPIHBP1  Malacards:  GPIHBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050821	protein stabilization	IDA	biological process
GO:0051006	positive regulation of lipoprotein lipase activity	IDA	biological process
GO:0035473	lipase binding	IPI	molecular function
GO:0051006	positive regulation of lipoprotein lipase activity	IBA	biological process
GO:0035473	lipase binding	IBA	molecular function
GO:0031225	anchored component of membrane	IBA	cellular component
GO:0030550	acetylcholine receptor inhibitor activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0070328	triglyceride homeostasis	IBA	biological process
GO:0035478	chylomicron binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0051004	regulation of lipoprotein lipase activity	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0034371	chylomicron remodeling	TAS	biological process
GO:0035478	chylomicron binding	IDA	molecular function
GO:0140318	protein transporter activity	ISS	molecular function
GO:0035473	lipase binding	IPI	molecular function
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0031362	anchored component of external side of plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0017038	protein import	ISS	biological process
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0045056	transcytosis	ISS	biological process
GO:0050821	protein stabilization	ISS	biological process
GO:0070328	triglyceride homeostasis	IMP	biological process
GO:0071503	response to heparin	IMP	biological process
GO:0006886	intracellular protein transport	ISS	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0034394	protein localization to cell surface	ISS	biological process
GO:0051006	positive regulation of lipoprotein lipase activity	IMP	biological process
GO:0090321	positive regulation of chylomicron remnant clearance	ISS	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:2000272	negative regulation of signaling receptor activity	IEA	biological process
GO:0071813	lipoprotein particle binding	IDA	molecular function

Diseases

Associated diseases	References
Primary hyperchylomicronemia	KEGG:H01784
Hyperlipoproteinemia, type I	KEGG:H00154
Primary hyperchylomicronemia	KEGG:H01784
Hyperlipoproteinemia, type I	KEGG:H00154
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq