PPIP5K1

Gene Facts External Data Attribution

HGNC Symbol
PPIP5K1 (HGNC:29023) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
diphosphoinositol pentakisphosphate kinase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
HISPPD2A
Alias symbols
KIAA0377, IPS1, VIP1
%HI
27.93(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.69(Read more about gnomAD LOEUF score)
Cytoband
15q15.3
Genomic Coordinates
GRCh37/hg19: chr15:43825660-43882451 NCBI Ensembl UCSC
GRCh38/hg38: chr15:43533475-43590253 NCBI Ensembl UCSC
MANE Select Transcript
NM_001394395.1 ENST00000420765.6 (Read more about MANE Select)
Function
Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activatio... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-21830
Curation Status:
Reopened
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)