INPP5K

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).

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.

Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.

Ubiquitously expressed with highest levels in skeletal muscle, heart and kidney.

• Endoplasmic reticulum
• Cytoplasm
• Following stimulation with EGF, translocates to membrane ruffles (PubMed:12536145, PubMed:26940976). Concentrated at the periphery of the nucleus (PubMed:10753883).

PPS, SKIP, INPP5K, Inositol polyphosphate 5-phosphatase K, Skeletal muscle and kidney-enriched inositol phosphatase

• entrezGene:51763
• omim:607875
• swissprot:Q9BT40

Proteins

Neuroscience

51090Da