GPIHBP1

  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GPIHBP1 (HGNC:24945) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
LOC338328, GPI-HBP1
%HI
96.22(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.14(Read more about gnomAD pLI score)
LOEUF
1.1(Read more about gnomAD LOEUF score)
Cytoband
8q24.3
Genomic Coordinates
GRCh37/hg19: chr8:144295093-144299044 NCBI Ensembl UCSC
GRCh38/hg38: chr8:143213218-143217170 NCBI Ensembl UCSC
MANE Select Transcript
NM_178172.6 ENST00000622500.2 (Read more about MANE Select)
Function
Mediates the transport of lipoprotein lipase LPL from the basolateral to the apical surface of endothelial cells in capillaries (By similarity). Anchors LPL on the surface of endothelial cells in the lumen of blood capillaries (By similarity). Protects LPL against loss of activity, and against ANGPTL4-mediated unfolding (PubMed:27929370, PubMed:29899144). Thereby, plays an important role in lipolytic processing of chylomicrons by LPL, triglyceride metabolism and lipid homeostasis (PubMed:1930457... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10951
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)