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Q8IV16 (HDBP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:GPIHBP1
Synonyms:HBP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length184 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Binds with high affinity to high-density lipoprotein (HDL) By similarity. Binds to lipoprotein lipase (LPL), chylomicrons and APOA5. Ref.4

Subcellular location

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

Post-translational modification

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

Polymorphism

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

Sequence similarities

Contains 1 UPAR/Ly6 domain.

Ontologies

Keywords
   Biological processTransport
   Cellular componentCell membrane
HDL
Membrane
   Coding sequence diversityPolymorphism
   DomainSignal
   LigandLipid-binding
   PTMDisulfide bond
Glycoprotein
GPI-anchor
Lipoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcholesterol homeostasis

Inferred from sequence or structural similarity. Source: BHF-UCL

intracellular protein transport

Inferred from sequence or structural similarity PubMed 20620994. Source: BHF-UCL

lipid transport

Inferred from electronic annotation. Source: Ensembl

positive regulation of chylomicron remnant clearance

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of lipoprotein lipase activity

Inferred from mutant phenotype PubMed 20124439. Source: BHF-UCL

protein import

Inferred from sequence or structural similarity PubMed 20620994. Source: BHF-UCL

protein localization to cell surface

Inferred from sequence or structural similarity PubMed 20620994. Source: BHF-UCL

protein stabilization

Inferred from sequence or structural similarity. Source: BHF-UCL

protein transmembrane transport

Inferred from sequence or structural similarity PubMed 20620994. Source: GOC

response to heparin

Inferred from mutant phenotype PubMed 20124439. Source: BHF-UCL

transcytosis

Inferred from sequence or structural similarity PubMed 20620994. Source: BHF-UCL

triglyceride homeostasis

Inferred from mutant phenotype PubMed 20124439. Source: BHF-UCL

   Cellular_componentanchored component of external side of plasma membrane

Inferred from direct assay Ref.4. Source: BHF-UCL

apical plasma membrane

Inferred from sequence or structural similarity PubMed 20620994. Source: BHF-UCL

basolateral plasma membrane

Inferred from sequence or structural similarity PubMed 20620994. Source: BHF-UCL

external side of plasma membrane

Inferred from direct assay PubMed 20124439. Source: BHF-UCL

high-density lipoprotein particle

Inferred from electronic annotation. Source: UniProtKB-KW

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionchylomicron binding

Inferred from direct assay Ref.7. Source: BHF-UCL

high-density lipoprotein particle binding

Inferred from electronic annotation. Source: Ensembl

lipase binding

Inferred from physical interaction PubMed 20124439. Source: BHF-UCL

lipid binding

Inferred from electronic annotation. Source: UniProtKB-KW

lipoprotein particle binding

Inferred from direct assay Ref.4. Source: UniProtKB

protein transmembrane transporter activity

Inferred from sequence or structural similarity PubMed 20620994. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 151131Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1
PRO_0000318208
Propeptide152 – 18433Removed in mature form Probable
PRO_0000429858

Regions

Domain63 – 14886UPAR/Ly6
Compositional bias25 – 317Poly-Glu
Compositional bias40 – 5011Poly-Glu

Amino acid modifications

Lipidation1511GPI-anchor amidated glycine Probable
Glycosylation781N-linked (GlcNAc...) Potential
Disulfide bond65 ↔ 89 By similarity
Disulfide bond68 ↔ 77 By similarity
Disulfide bond83 ↔ 110 By similarity
Disulfide bond114 ↔ 130 By similarity
Disulfide bond131 ↔ 136 By similarity

Natural variations

Natural variant141C → F. Ref.3
Corresponds to variant rs11538389 [ dbSNP | Ensembl ].
VAR_044503
Natural variant561G → R No discernible effect on the binding of LPL, chylomicrons or APOA5. Ref.4 Ref.6
VAR_044504
Natural variant1151Q → P in a patient with chylomicronemia; does not affect expression of the protein at the cell surface; cannot bind LPL or chylomicrons. Ref.7
VAR_058086

Sequences

Sequence LengthMass (Da)Tools
Q8IV16 [UniParc].

Last modified December 7, 2004. Version 2.
Checksum: 89FF61B08A008C70

FASTA18419,806
        10         20         30         40         50         60 
MKALGAVLLA LLLCGRPGRG QTQQEEEEED EDHGPDDYDE EDEDEVEEEE TNRLPGGRSR 

        70         80         90        100        110        120 
VLLRCYTCKS LPRDERCNLT QNCSHGQTCT TLIAHGNTES GLLTTHSTWC TDSCQPITKT 

       130        140        150        160        170        180 
VEGTQVTMTC CQSSLCNVPP WQSSRVQDPT GKGAGGPRGS SETVGAALLL NLLAGLGAMG 


ARRP 

« Hide

References

« Hide 'large scale' references
[1]"Isolation and characterization of human HBP1 gene."
Shan Y.X., Yu L.
Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT PHE-14.
Tissue: Brain and PNS.
[4]"Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution."
Gin P., Beigneux A.P., Davies B., Young M.F., Ryan R.O., Bensadoun A., Fong L.G., Young S.G.
Biochim. Biophys. Acta 1771:1464-1468(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH APOA5 AND LPL, CHARACTERIZATION OF VARIANT ARG-56.
[5]"GPIHBP1, an endothelial cell transporter for lipoprotein lipase."
Young S.G., Davies B.S., Voss C.V., Gin P., Weinstein M.M., Tontonoz P., Reue K., Bensadoun A., Fong L.G., Beigneux A.P.
J. Lipid Res. 52:1869-1884(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[6]"Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650)."
Wang J., Hegele R.A.
Lipids Health Dis. 6:23-23(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ARG-56.
[7]"Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase."
Beigneux A.P., Franssen R., Bensadoun A., Gin P., Melford K., Peter J., Walzem R.L., Weinstein M.M., Davies B.S.J., Kuivenhoven J.A., Kastelein J.J.P., Fong L.G., Dallinga-Thie G.M., Young S.G.
Arterioscler. Thromb. Vasc. Biol. 29:956-962(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PRO-115, CHARACTERIZATION OF VARIANT PRO-115.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY245915 mRNA. Translation: AAO86519.1.
CH471162 Genomic DNA. Translation: EAW82276.1.
BC035810 mRNA. Translation: AAH35810.2.
BC063857 mRNA. Translation: AAH63857.1.
RefSeqNP_835466.2. NM_178172.5.
UniGeneHs.426410.

3D structure databases

ProteinModelPortalQ8IV16.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ8IV16. 1 interaction.
STRING9606.ENSP00000329266.

Polymorphism databases

DMDM74728020.

Proteomic databases

PRIDEQ8IV16.

Protocols and materials databases

DNASU338328.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000330824; ENSP00000329266; ENSG00000182851.
GeneID338328.
KEGGhsa:338328.
UCSCuc003yxu.2. human.

Organism-specific databases

CTD338328.
GeneCardsGC08P144295.
HGNCHGNC:24945. GPIHBP1.
MIM612757. gene.
neXtProtNX_Q8IV16.
Orphanet411. Hyperlipoproteinemia type 1.
70470. Hyperlipoproteinemia type 5.
PharmGKBPA162390135.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42849.
HOGENOMHOG000112872.
InParanoidQ8IV16.
OMAIAHGNTE.
OrthoDBEOG7M6D9C.
PhylomeDBQ8IV16.
TreeFamTF338440.

Gene expression databases

BgeeQ8IV16.
CleanExHS_GPIHBP1.
HS_HBP1.
GenevestigatorQ8IV16.

Family and domain databases

InterProIPR016054. LY6_UPA_recep-like.
IPR001526. LY6_UPAR.
[Graphical view]
PfamPF00021. UPAR_LY6. 1 hit.
[Graphical view]
SMARTSM00134. LU. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi338328.
NextBio96941.
PROQ8IV16.
SOURCESearch...

Entry information

Entry nameHDBP1_HUMAN
AccessionPrimary (citable) accession number: Q8IV16
Secondary accession number(s): Q6P3T2, Q86W15
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: December 7, 2004
Last modified: July 9, 2014
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM