INPP5K
Function
Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (PubMed:10753883, PubMed:16824732). Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5-trisphosphate (PubMed:10753883). Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (By similarity).
Involvement in disease
Muscular dystrophy, congenital, with cataracts and intellectual disability
MDCCAID
An autosomal recessive form of muscular dystrophy with onset in early childhood and characterized by progressive muscle weakness. Almost all patients also have early-onset cataracts and intellectual disability of varying severity. Some patients have seizures.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
Tissue Specificity
Ubiquitously expressed with highest levels in skeletal muscle, heart and kidney.
Cellular localization
- Endoplasmic reticulum
- Cytoplasm
- Following stimulation with EGF, translocates to membrane ruffles (PubMed:12536145, PubMed:26940976). Concentrated at the periphery of the nucleus (PubMed:10753883).
Alternative names
PPS, SKIP, INPP5K, Inositol polyphosphate 5-phosphatase K, Skeletal muscle and kidney-enriched inositol phosphatase