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:
- hyperlipoproteinemia, type 1D Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000008.10)
(NC_000008.11)