Q8IV16 (HDBP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	GPIHBP1
Synonyms:	HBP1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	184 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Plays a key role in the lipolytic processing of chylomicrons 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	Cell membrane; Single-pass membrane protein Potential. Note: Localized at the cell surface.
Polymorphism	The missense variant Arg-56 may be associated with severe hypertriglyceridemia and chylomicronemia.
Sequence similarities	Contains 1 UPAR/Ly6 domain.
Caution	The mouse ortholog has been suggested to be a GPI-anchored protein, but no GPI-anchor is detected by prediction methods.

Ontologies

Keywords
Cellular component	Cell membrane HDL Membrane
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Ligand	Lipid-binding
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cholesterol 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: Compara 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 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_component	anchored to 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 high-density lipoprotein particle Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW intracellular Inferred from electronic annotation. Source: Compara
Molecular_function	chylomicron binding Inferred from direct assay Ref.4. Source: BHF-UCL high-density lipoprotein particle binding Inferred from electronic annotation. Source: Compara lipid binding Inferred from electronic annotation. Source: UniProtKB-KW protein transmembrane transporter activity Inferred from sequence or structural similarity PubMed 20620994. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Potential
	Chain	21 – 184	164	Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1		PRO_0000318208
Regions
	Transmembrane	161 – 178	18	Helical; Potential
	Domain	63 – 148	86	UPAR/Ly6
	Compositional bias	25 – 31	7	Poly-Glu
	Compositional bias	40 – 50	11	Poly-Glu
Amino acid modifications
	Glycosylation	78	1	N-linked (GlcNAc...) Potential
	Disulfide bond	65 ↔ 89		By similarity
	Disulfide bond	68 ↔ 77		By similarity
	Disulfide bond	83 ↔ 110		By similarity
	Disulfide bond	114 ↔ 130		By similarity
	Disulfide bond	131 ↔ 136		By similarity
Natural variations
	Natural variant	14	1	C → F. Ref.3 Corresponds to variant rs11538389 [ dbSNP | Ensembl ].		VAR_044503
	Natural variant	56	1	G → R No discernible effect on the binding of LPL, chylomicrons or APOA5. Ref.4 Ref.5		VAR_044504
	Natural variant	115	1	Q → P in a patient with chylomicronemia; does not affect expression of the protein at the cell surface; cannot bind LPL or chylomicrons. Ref.6		VAR_058086

Sequences

	Sequence		Length	Mass (Da)
	Q8IV16 [UniParc]. Last modified December 7, 2004. Version 2. Checksum: 89FF61B08A008C70	FASTA	184	19,806
	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

References

	« Hide 'large scale' referencesShow '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. , 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]	"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.
[6]	"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.
IPI	IPI00216823.
RefSeq	NP_835466.1. NM_178172.3.
UniGene	Hs.426410.
3D structure databases
ProteinModelPortal	Q8IV16.
SMR	Q8IV16. Positions 63-137.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000329266.
Polymorphism databases
DMDM	74728020.
Proteomic databases
PRIDE	Q8IV16.
Protocols and materials databases
DNASU	338328.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000330824; ENSP00000329266; ENSG00000182851.
GeneID	338328.
KEGG	hsa:338328.
UCSC	uc003yxu.2. human.
Organism-specific databases
CTD	338328.
GeneCards	GC08P144295.
HGNC	HGNC:24945. GPIHBP1.
MIM	612757. gene.
neXtProt	NX_Q8IV16.
Orphanet	411. Hyperlipoproteinemia type 1. 70470. Hyperlipoproteinemia type 5.
PharmGKB	PA162390135.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG42849.
HOGENOM	HOG000112872.
InParanoid	Q8IV16.
OMA	IAHGNTE.
OrthoDB	EOG4MGS8K.
Gene expression databases
Bgee	Q8IV16.
CleanEx	HS_GPIHBP1. HS_HBP1.
Genevestigator	Q8IV16.
Family and domain databases
InterPro	IPR016054. LY6_UPA_recep-like. IPR001526. LY6_UPAR. [Graphical view]
Pfam	PF00021. UPAR_LY6. 1 hit. [Graphical view]
SMART	SM00134. LU. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	338328.
NextBio	96941.
SOURCE	Search...

Entry information

Entry name

HDBP1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 81 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.