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Protein

Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1

Gene

GPIHBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a key role in the lipolytic processing of chylomicrons. Required for the transport of lipoprotein lipase LPL into the capillary lumen (By similarity).By similarity

GO - Molecular functioni

  • chylomicron binding Source: BHF-UCL
  • high-density lipoprotein particle binding Source: Ensembl
  • lipase binding Source: BHF-UCL
  • lipid binding Source: UniProtKB-KW
  • lipoprotein particle binding Source: UniProtKB
  • protein transmembrane transporter activity Source: BHF-UCL

GO - Biological processi

  • cholesterol homeostasis Source: BHF-UCL
  • intracellular protein transport Source: BHF-UCL
  • lipid transport Source: Ensembl
  • positive regulation of chylomicron remnant clearance Source: BHF-UCL
  • positive regulation of lipoprotein lipase activity Source: BHF-UCL
  • protein import Source: BHF-UCL
  • protein localization to cell surface Source: BHF-UCL
  • protein stabilization Source: BHF-UCL
  • response to heparin Source: BHF-UCL
  • transcytosis Source: BHF-UCL
  • triglyceride homeostasis Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

Lipid-binding

Enzyme and pathway databases

ReactomeiR-HSA-174800. Chylomicron-mediated lipid transport.
R-HSA-975634. Retinoid metabolism and transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1
Short name:
GPI-HBP1
Short name:
GPI-anchored HDL-binding protein 1
Alternative name(s):
High density lipoprotein-binding protein 1
Gene namesi
Name:GPIHBP1
Synonyms:HBP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:24945. GPIHBP1.

Subcellular locationi

  • Apical cell membrane By similarity; Lipid-anchorGPI-anchor By similarity
  • Basolateral cell membrane By similarity; Lipid-anchorGPI-anchor By similarity
  • Cell membrane By similarity; Peripheral membrane protein By similarity; Extracellular side By similarity

GO - Cellular componenti

  • anchored component of external side of plasma membrane Source: BHF-UCL
  • apical plasma membrane Source: BHF-UCL
  • basolateral plasma membrane Source: BHF-UCL
  • external side of plasma membrane Source: BHF-UCL
  • high-density lipoprotein particle Source: UniProtKB-KW
  • intracellular Source: GOC
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, HDL, Membrane

Pathology & Biotechi

Involvement in diseasei

Hyperlipoproteinemia 1D (HLPP1D)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by hyperlipoproteinemia, decreased plasma LPL levels in some patients, high plasma triglyceride levels, and refractory fasting chylomicronemia.
See also OMIM:615947
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04450314C → F Polymorphism; it may act as a disease modifier contributing to severe HLPP1D when associated with F-89; results in decreased GPIHBP1 expression at the cell surface. 2 PublicationsCorresponds to variant rs11538389dbSNPEnsembl.1
Natural variantiVAR_07188165C → S in HLPP1D; does not affect protein expression at the cell surface; cannot bind LPL. 1 Publication1
Natural variantiVAR_07188268C → G in HLPP1D; does not affect protein expression at the cell surface; cannot bind LPL. 1 Publication1
Natural variantiVAR_07188389C → F in HLPP1D; drastically affects LPL-binding. 1 Publication1
Natural variantiVAR_058086115Q → P in HLPP1D; a patient with chylomicronemia; does not affect protein expression at the cell surface; cannot bind LPL or chylomicrons. 1 Publication1
Natural variantiVAR_071884175G → R in HLPP1D; affects protein expression at the cell surface; reduced LPL binding. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi338328.
MalaCardsiGPIHBP1.
MIMi615947. phenotype.
Orphaneti411. Hyperlipoproteinemia type 1.
70470. Hyperlipoproteinemia type 5.
PharmGKBiPA162390135.

Polymorphism and mutation databases

BioMutaiGPIHBP1.
DMDMi74728020.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000031820821 – 151Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1Add BLAST131
PropeptideiPRO_0000429858152 – 184Removed in mature formCuratedAdd BLAST33

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi65 ↔ 89By similarity
Disulfide bondi68 ↔ 77By similarity
Glycosylationi78N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi83 ↔ 110By similarity
Disulfide bondi114 ↔ 130By similarity
Disulfide bondi131 ↔ 136By similarity
Lipidationi151GPI-anchor amidated glycineCurated1

Post-translational modificationi

Glycosylation of Asn-78 is critical for cell surface localization and the binding of chylomicrons and lipoprotein lipase.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PaxDbiQ8IV16.
PeptideAtlasiQ8IV16.
PRIDEiQ8IV16.

PTM databases

iPTMnetiQ8IV16.
PhosphoSitePlusiQ8IV16.

Expressioni

Gene expression databases

BgeeiENSG00000182851.
CleanExiHS_GPIHBP1.
HS_HBP1.
GenevisibleiQ8IV16. HS.

Organism-specific databases

HPAiHPA066302.

Interactioni

Subunit structurei

Binds with high affinity to high-density lipoprotein (HDL) (By similarity). Binds to lipoprotein lipase (LPL), chylomicrons and APOA5.By similarity

GO - Molecular functioni

  • lipase binding Source: BHF-UCL

Protein-protein interaction databases

IntActiQ8IV16. 1 interactor.
STRINGi9606.ENSP00000329266.

Structurei

3D structure databases

ProteinModelPortaliQ8IV16.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini63 – 148UPAR/Ly6Add BLAST86

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi25 – 31Poly-Glu7
Compositional biasi40 – 50Poly-GluAdd BLAST11

Sequence similaritiesi

Contains 1 UPAR/Ly6 domain.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J46G. Eukaryota.
ENOG41116TR. LUCA.
HOGENOMiHOG000112872.
InParanoidiQ8IV16.
KOiK20001.
OrthoDBiEOG091G0UW5.
PhylomeDBiQ8IV16.
TreeFamiTF338440.

Family and domain databases

InterProiIPR016054. LY6_UPA_recep-like.
[Graphical view]
PfamiPF00021. UPAR_LY6. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8IV16-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKALGAVLLA LLLCGRPGRG QTQQEEEEED EDHGPDDYDE EDEDEVEEEE
60 70 80 90 100
TNRLPGGRSR VLLRCYTCKS LPRDERCNLT QNCSHGQTCT TLIAHGNTES
110 120 130 140 150
GLLTTHSTWC TDSCQPITKT VEGTQVTMTC CQSSLCNVPP WQSSRVQDPT
160 170 180
GKGAGGPRGS SETVGAALLL NLLAGLGAMG ARRP
Length:184
Mass (Da):19,806
Last modified:December 7, 2004 - v2
Checksum:i89FF61B08A008C70
GO

Polymorphismi

The missense variant Arg-56 may be associated with severe hypertriglyceridemia and chylomicronemia.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04450314C → F Polymorphism; it may act as a disease modifier contributing to severe HLPP1D when associated with F-89; results in decreased GPIHBP1 expression at the cell surface. 2 PublicationsCorresponds to variant rs11538389dbSNPEnsembl.1
Natural variantiVAR_04450456G → R Polymorphism; no discernible effect on the binding of LPL, chylomicrons or APOA5. 2 Publications1
Natural variantiVAR_07188165C → S in HLPP1D; does not affect protein expression at the cell surface; cannot bind LPL. 1 Publication1
Natural variantiVAR_07188268C → G in HLPP1D; does not affect protein expression at the cell surface; cannot bind LPL. 1 Publication1
Natural variantiVAR_07188389C → F in HLPP1D; drastically affects LPL-binding. 1 Publication1
Natural variantiVAR_058086115Q → P in HLPP1D; a patient with chylomicronemia; does not affect protein expression at the cell surface; cannot bind LPL or chylomicrons. 1 Publication1
Natural variantiVAR_071884175G → R in HLPP1D; affects protein expression at the cell surface; reduced LPL binding. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY245915 mRNA. Translation: AAO86519.1.
CH471162 Genomic DNA. Translation: EAW82276.1.
BC035810 mRNA. Translation: AAH35810.2.
BC063857 mRNA. Translation: AAH63857.1.
CCDSiCCDS34954.1.
RefSeqiNP_001288701.1. NM_001301772.1.
NP_835466.2. NM_178172.5.
UniGeneiHs.426410.

Genome annotation databases

EnsembliENST00000622500; ENSP00000480053; ENSG00000277494.
GeneIDi338328.
KEGGihsa:338328.
UCSCiuc033cbs.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY245915 mRNA. Translation: AAO86519.1.
CH471162 Genomic DNA. Translation: EAW82276.1.
BC035810 mRNA. Translation: AAH35810.2.
BC063857 mRNA. Translation: AAH63857.1.
CCDSiCCDS34954.1.
RefSeqiNP_001288701.1. NM_001301772.1.
NP_835466.2. NM_178172.5.
UniGeneiHs.426410.

3D structure databases

ProteinModelPortaliQ8IV16.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8IV16. 1 interactor.
STRINGi9606.ENSP00000329266.

PTM databases

iPTMnetiQ8IV16.
PhosphoSitePlusiQ8IV16.

Polymorphism and mutation databases

BioMutaiGPIHBP1.
DMDMi74728020.

Proteomic databases

PaxDbiQ8IV16.
PeptideAtlasiQ8IV16.
PRIDEiQ8IV16.

Protocols and materials databases

DNASUi338328.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000622500; ENSP00000480053; ENSG00000277494.
GeneIDi338328.
KEGGihsa:338328.
UCSCiuc033cbs.1. human.

Organism-specific databases

CTDi338328.
DisGeNETi338328.
GeneCardsiGPIHBP1.
HGNCiHGNC:24945. GPIHBP1.
HPAiHPA066302.
MalaCardsiGPIHBP1.
MIMi612757. gene.
615947. phenotype.
neXtProtiNX_Q8IV16.
Orphaneti411. Hyperlipoproteinemia type 1.
70470. Hyperlipoproteinemia type 5.
PharmGKBiPA162390135.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J46G. Eukaryota.
ENOG41116TR. LUCA.
HOGENOMiHOG000112872.
InParanoidiQ8IV16.
KOiK20001.
OrthoDBiEOG091G0UW5.
PhylomeDBiQ8IV16.
TreeFamiTF338440.

Enzyme and pathway databases

ReactomeiR-HSA-174800. Chylomicron-mediated lipid transport.
R-HSA-975634. Retinoid metabolism and transport.

Miscellaneous databases

GenomeRNAii338328.
PROiQ8IV16.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182851.
CleanExiHS_GPIHBP1.
HS_HBP1.
GenevisibleiQ8IV16. HS.

Family and domain databases

InterProiIPR016054. LY6_UPA_recep-like.
[Graphical view]
PfamiPF00021. UPAR_LY6. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHDBP1_HUMAN
AccessioniPrimary (citable) accession number: Q8IV16
Secondary accession number(s): Q6P3T2, Q86W15
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: December 7, 2004
Last modified: November 2, 2016
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.