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)