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Q8IV16

- HDBP1_HUMAN

UniProt

Q8IV16 - HDBP1_HUMAN

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Protein

Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1

Gene
GPIHBP1, HBP1
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. chylomicron binding Source: BHF-UCL
  2. high-density lipoprotein particle binding Source: Ensembl
  3. lipase binding Source: BHF-UCL
  4. lipid binding Source: UniProtKB-KW
  5. lipoprotein particle binding Source: UniProtKB
  6. protein transmembrane transporter activity Source: BHF-UCL

GO - Biological processi

  1. cholesterol homeostasis Source: BHF-UCL
  2. intracellular protein transport Source: BHF-UCL
  3. lipid transport Source: Ensembl
  4. positive regulation of chylomicron remnant clearance Source: BHF-UCL
  5. positive regulation of lipoprotein lipase activity Source: BHF-UCL
  6. protein import Source: BHF-UCL
  7. protein localization to cell surface Source: BHF-UCL
  8. protein stabilization Source: BHF-UCL
  9. protein transmembrane transport Source: GOC
  10. response to heparin Source: BHF-UCL
  11. transcytosis Source: BHF-UCL
  12. triglyceride homeostasis Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

Lipid-binding

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:24945. GPIHBP1.

Subcellular locationi

GO - Cellular componenti

  1. anchored component of external side of plasma membrane Source: BHF-UCL
  2. apical plasma membrane Source: BHF-UCL
  3. basolateral plasma membrane Source: BHF-UCL
  4. external side of plasma membrane Source: BHF-UCL
  5. high-density lipoprotein particle Source: UniProtKB-KW
  6. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, HDL, Membrane

Pathology & Biotechi

Organism-specific databases

Orphaneti411. Hyperlipoproteinemia type 1.
70470. Hyperlipoproteinemia type 5.
PharmGKBiPA162390135.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020 Reviewed predictionAdd
BLAST
Chaini21 – 151131Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1PRO_0000318208Add
BLAST
Propeptidei152 – 18433Removed in mature form InferredPRO_0000429858Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi65 ↔ 89 By similarity
Disulfide bondi68 ↔ 77 By similarity
Glycosylationi78 – 781N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi83 ↔ 110 By similarity
Disulfide bondi114 ↔ 130 By similarity
Disulfide bondi131 ↔ 136 By similarity
Lipidationi151 – 1511GPI-anchor amidated glycine Inferred

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

PRIDEiQ8IV16.

Expressioni

Gene expression databases

BgeeiQ8IV16.
CleanExiHS_GPIHBP1.
HS_HBP1.
GenevestigatoriQ8IV16.

Interactioni

Subunit structurei

Binds with high affinity to high-density lipoprotein (HDL) By similarity. Binds to lipoprotein lipase (LPL), chylomicrons and APOA5.1 Publication

Protein-protein interaction databases

IntActiQ8IV16. 1 interaction.
STRINGi9606.ENSP00000329266.

Structurei

3D structure databases

ProteinModelPortaliQ8IV16.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini63 – 14886UPAR/Ly6Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi25 – 317Poly-Glu
Compositional biasi40 – 5011Poly-GluAdd
BLAST

Sequence similaritiesi

Contains 1 UPAR/Ly6 domain.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG42849.
HOGENOMiHOG000112872.
InParanoidiQ8IV16.
OMAiIAHGNTE.
OrthoDBiEOG7M6D9C.
PhylomeDBiQ8IV16.
TreeFamiTF338440.

Family and domain databases

InterProiIPR016054. LY6_UPA_recep-like.
IPR001526. LY6_UPAR.
[Graphical view]
PfamiPF00021. UPAR_LY6. 1 hit.
[Graphical view]
SMARTiSM00134. LU. 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

MKALGAVLLA LLLCGRPGRG QTQQEEEEED EDHGPDDYDE EDEDEVEEEE    50
TNRLPGGRSR VLLRCYTCKS LPRDERCNLT QNCSHGQTCT TLIAHGNTES 100
GLLTTHSTWC TDSCQPITKT VEGTQVTMTC CQSSLCNVPP WQSSRVQDPT 150
GKGAGGPRGS SETVGAALLL NLLAGLGAMG ARRP 184
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141C → F.1 Publication
Corresponds to variant rs11538389 [ dbSNP | Ensembl ].
VAR_044503
Natural varianti56 – 561G → R No discernible effect on the binding of LPL, chylomicrons or APOA5. 2 Publications
VAR_044504
Natural varianti115 – 1151Q → P in a patient with chylomicronemia; does not affect expression of the protein at the cell surface; cannot bind LPL or chylomicrons. 1 Publication
VAR_058086

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_835466.2. NM_178172.5.
UniGeneiHs.426410.

Genome annotation databases

EnsembliENST00000330824; ENSP00000329266; ENSG00000182851.
GeneIDi338328.
KEGGihsa:338328.
UCSCiuc003yxu.2. human.

Polymorphism databases

DMDMi74728020.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY245915 mRNA. Translation: AAO86519.1 .
CH471162 Genomic DNA. Translation: EAW82276.1 .
BC035810 mRNA. Translation: AAH35810.2 .
BC063857 mRNA. Translation: AAH63857.1 .
CCDSi CCDS34954.1.
RefSeqi NP_835466.2. NM_178172.5.
UniGenei Hs.426410.

3D structure databases

ProteinModelPortali Q8IV16.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q8IV16. 1 interaction.
STRINGi 9606.ENSP00000329266.

Polymorphism databases

DMDMi 74728020.

Proteomic databases

PRIDEi Q8IV16.

Protocols and materials databases

DNASUi 338328.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000330824 ; ENSP00000329266 ; ENSG00000182851 .
GeneIDi 338328.
KEGGi hsa:338328.
UCSCi uc003yxu.2. human.

Organism-specific databases

CTDi 338328.
GeneCardsi GC08P144295.
HGNCi HGNC:24945. GPIHBP1.
MIMi 612757. gene.
neXtProti NX_Q8IV16.
Orphaneti 411. Hyperlipoproteinemia type 1.
70470. Hyperlipoproteinemia type 5.
PharmGKBi PA162390135.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG42849.
HOGENOMi HOG000112872.
InParanoidi Q8IV16.
OMAi IAHGNTE.
OrthoDBi EOG7M6D9C.
PhylomeDBi Q8IV16.
TreeFami TF338440.

Miscellaneous databases

GenomeRNAii 338328.
NextBioi 96941.
PROi Q8IV16.
SOURCEi Search...

Gene expression databases

Bgeei Q8IV16.
CleanExi HS_GPIHBP1.
HS_HBP1.
Genevestigatori Q8IV16.

Family and domain databases

InterProi IPR016054. LY6_UPA_recep-like.
IPR001526. LY6_UPAR.
[Graphical view ]
Pfami PF00021. UPAR_LY6. 1 hit.
[Graphical view ]
SMARTi SM00134. LU. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. Cited for: VARIANT PRO-115, CHARACTERIZATION OF VARIANT PRO-115.

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: September 3, 2014
This is version 92 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

External Data

Dasty 3

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