GPIHBP1

Protein identityUniProt · HPA

UniProt accession

Q8IV16

Gene

GPIHBP1

Ensembl

ENSG00000277494

Chromosome

8

Canonical length

184 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Principal piece,End piece

Secretome location

Intracellular and membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

Canonical amino-acid sequenceUniProt

184 residues, UniProt reviewed canonical sequence.

>Q8IV16|GPIHBP1
     1  MKALGAVLLA LLLFGRPGRG QTQQEEEEED EDHGPDDYDE EDEDEVEEEE TNRLPGGRSR
    61  VLLRCYTCKS LPRDERCNLT QNCSHGQTCT TLIAHGNTES GLLTTHSTWC TDSCQPITKT
   121  VEGTQVTMTC CQSSLCNVPP WQSSRVQDPT GKGAGGPRGS SETVGAALLL NLLAGLGAMG
   181  ARRP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GPIHBP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.55

Highest tissue expression

85 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GPIHBP1.

Disease | AllUniProt

Conditions GPIHBP1 is implicated in, by any mechanism.

• Hyperlipoproteinemia 1D (HLPP1D) MIM:615947

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 198 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hyperlipoproteinemia, type 1D
• Hyperlipoproteinemia, type I
• Cardiovascular phenotype

Disease | AutoantibodyPubMed

Conditions in which antibodies against GPIHBP1 are reported. Each links to that disease's full target list.

Showing 0 of 3 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for GPIHBP1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.1

gnomAD pLI

0.14

gnomAD missense Z

0.04

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cholesterol homeostasis
• intracellular protein transport
• positive regulation of fatty acid biosynthetic process
• protein import
• protein localization to cell surface
• protein stabilization
• response to heparin
• transcytosis
• triglyceride catabolic process
• triglyceride homeostasis
• positive regulation of chylomicron remnant clearance
• positive regulation of chylomicron remodeling

Molecular functions

• lipase binding
• lipid binding
• lipoprotein lipase activator activity
• lipoprotein particle binding
• protein transporter activity
• chylomicron binding

Cellular components

• apical plasma membrane
• basolateral plasma membrane
• catalytic complex
• external side of plasma membrane
• extracellular region
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Snake toxin/toxin-like
• Snake toxin-like superfamily
• Ly-6/neurotoxin-like and GPI-anchored
• Snake toxin and toxin-like protein

KeywordsUniProt

• Cell membrane
• Disulfide bond
• Glycoprotein
• GPI-anchor
• Lipid-binding
• Lipoprotein
• Membrane
• Signal
• Sulfation
• Transport

InteractionsUniProt · HPA

Protein binding partners of GPIHBP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• APOA5