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inositol polyphosphate-5-phosphatase K
Summary
- Gene Symbol
-
- INPP5K
- Aliases
-
- SKIP
- skeletal muscle and kidney enriched inositol phosphatase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cataract
- Congenital muscular dystrophy
- Cytoplasm
- Disease variant
- Endoplasmic reticulum
- Hydrolase
- Intellectual disability
- Lipid metabolism
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9BT40 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| negative regulation of DNA-templated transcription | ||
| phosphatidylinositol biosynthetic process |
|
|
| negative regulation of dephosphorylation | ||
| negative regulation of glycogen biosynthetic process | ||
| negative regulation of single stranded viral RNA replication via double stranded DNA intermediate |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
response to stimulus [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
negative regulation of metabolic process [inference]
positive regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
regulation of nucleobase-containing compound metabolic process [inference]
negative regulation of cellular metabolic process [inference]
regulation of cellular biosynthetic process [inference]
regulation of phosphorus metabolic process [inference]
regulation of nitrogen compound metabolic process [inference]
regulation of nucleobase-containing compound metabolic process [inference]
negative regulation of nitrogen compound metabolic process [inference]
regulation of protein metabolic process [inference]
regulation of macromolecule metabolic process [inference]
regulation of macromolecule biosynthetic process [inference]
negative regulation of macromolecule metabolic process [inference]
regulation of protein metabolic process [inference]
regulation of RNA metabolic process [inference]
regulation of primary metabolic process [inference]
regulation of signaling [inference]
regulation of localization [inference]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
negative regulation of metabolic process [inference]
negative regulation of cellular process [inference]
regulation of response to stimulus [inference]
regulation of viral process [inference]
regulation of cellular process [inference]
regulation of cell communication [inference]
regulation of cellular metabolic process [inference]
regulation of nucleobase-containing compound metabolic process [inference]
negative regulation of cellular metabolic process [inference]
regulation of cellular biosynthetic process [inference]
regulation of phosphorus metabolic process [inference]
negative regulation of cellular process [inference]
regulation of cellular component organization [inference]
regulation of molecular function [inference]
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| inositol bisphosphate phosphatase activity | ||
| inositol-polyphosphate 5-phosphatase activity | ||
| phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | ||
| phosphatidylinositol phosphate 5-phosphatase activity | ||
| inositol-1,4,5-trisphosphate 5-phosphatase activity |
GO Hierarchy
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
| DOID:0080197 | congenital muscular dystrophy with cataracts and intellectual disability |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004279 | Short palm |
| HP:0004322 | Short stature |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis |
| HP:0005916 | Abnormal metacarpal morphology |
| HP:0007126 | Proximal amyotrophy |
| HP:0009126 | Increased adipose tissue |
| HP:0009830 | Peripheral neuropathy |
| HP:0010508 | Metatarsus valgus |
| HP:0010547 | Muscle flaccidity |
| HP:0011463 | Childhood onset |
| Disease ID | Disease Name |
|---|---|
| OMIM:617404 |
|
| ORPHA:559 |
|
PubChem Disease
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002367
- Gene Name
- inositol polyphosphate-5-phosphatase K
