INPP5K
Inositol Polyphosphate-5-Phosphatase K
Gene Information Card
| Symbol | INPP5K |
|---|---|
| Full Name | Inositol Polyphosphate-5-Phosphatase K |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 51763 ncbi.nlm.nih.gov/gene/51763 |
| Ensembl ID | ENSG00000132361 |
| UniProt ID | Q9Y2J8 |
| OMIM ID | 607875 |
| HGNC ID | 6076 |
| Aliases | SKIP, PIB5PA, hSKIP |
Description
INPP5K encodes a member of the inositol polyphosphate-5-phosphatase family that hydrolyzes the 5-phosphate from inositol polyphosphates and phosphoinositides, including phosphatidylinositol (4,5)-bisphosphate and inositol 1,4,5-trisphosphate. The protein plays a role in actin cytoskeleton organization, cell migration, and insulin signaling. Mutations in INPP5K cause autosomal recessive congenital muscular dystrophy with intellectual disability and cataracts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital muscular dystrophy with intellectual disability and cataracts | Loss-of-function mutations impair phosphoinositide metabolism, disrupting muscle and neuronal function | OMIM #617404 |
| Intellectual disability | Disrupted inositol signaling affects synaptic plasticity and neuronal development | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Heart | 7.1 | Medium |
| Liver | 3.2 | Low |
| Kidney | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| SH-SY5Y | 10.8 | Neuronal model |
| C2C12 | 18.4 | Myoblast cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.307C>T (p.Arg103*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1165G>A (p.Gly389Arg) | Missense | Rare | Impaired phosphatase activity |
| c.1462C>T (p.Arg488Trp) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that abolish or severely reduce phosphatase activity, leading to disease.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-4 | • 5-bisphosphate 5-phosphatase activity |
| • inositol-1 | • 4 |
| • 5-trisphosphate 5-phosphatase activity | • actin cytoskeleton organization |
| • insulin receptor signaling pathway | • phosphatidylinositol dephosphorylation |
Pathways
• Phosphatidylinositol phosphate metabolism
• Inositol phosphate metabolism
• Insulin signaling
Protein Summary
INPP5K is a 448-amino acid protein containing a 5-phosphatase domain. It localizes to the cytosol and plasma membrane, where it dephosphorylates PI(4,5)P2 and IP3, regulating cellular signaling. The protein is highly expressed in skeletal muscle and brain, consistent with its role in muscle and neurological function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INPP5K Knockout HEK293 Cell Line | EDJ-KQ13108 | Human | 51763 | Details Get a Quote |
| INPP5K Knockout A-549 Cell Line | EDJ-KQ24929 | Human | 51763 | Details Get a Quote |
| INPP5K Knockout HCT 116 Cell Line | EDJ-KQ43683 | Human | 51763 | Details Get a Quote |
| INPP5K Knockout HeLa Cell Line | EDJ-KQ43684 | Human | 51763 | Details Get a Quote |
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