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Q8IV16

- HDBP1_HUMAN

UniProt

Q8IV16 - HDBP1_HUMAN

Protein

Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1

Gene

GPIHBP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 2 (07 Dec 2004)
      Previous versions | rss
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    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

    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

    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

    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

    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

    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 – 2020Sequence AnalysisAdd
    BLAST
    Chaini21 – 151131Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1PRO_0000318208Add
    BLAST
    Propeptidei152 – 18433Removed in mature formCuratedPRO_0000429858Add
    BLAST

    Amino acid modifications

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

    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.By similarity

    Protein-protein interaction databases

    IntActiQ8IV16. 1 interaction.
    STRINGi9606.ENSP00000329266.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IV16.
    ModBaseiSearch...
    MobiDBiSearch...

    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.Curated

    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. 1 Publication
    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

    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

    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

    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: October 1, 2014
    This is version 93 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