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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 protein kinase activity | ||
| negative regulation of peptidyl-serine phosphorylation | ||
| actin cytoskeleton organization |
|
|
| regulation of glycogen biosynthetic process | ||
| G protein-coupled receptor signaling pathway |
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 |
|---|---|---|
| phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity | ||
| inositol trisphosphate phosphatase activity | ||
| phosphatidylinositol trisphosphate phosphatase activity | ||
| inositol bisphosphate phosphatase activity | ||
| phosphatidylinositol phosphate 5-phosphatase activity |
GO Hierarchy
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110305 | autosomal dominant limb-girdle muscular dystrophy type 1 | |
| DOID:0110306 | autosomal dominant limb-girdle muscular dystrophy type 3 | |
| DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
| DOID:10041 | dysplastic nevus syndrome | |
| DOID:1029 | familial periodic paralysis | |
| DOID:10534 | stomach cancer | |
| DOID:1056 | oculocerebrorenal syndrome | |
| DOID:1059 | intellectual disability | |
| DOID:10652 | Alzheimer's disease | |
| DOID:10907 | microcephaly |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001284 | Areflexia |
| HP:0001288 | Gait disturbance |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001328 | Specific learning disability |
| HP:0001385 | Hip dysplasia |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature |
| HP:0001618 | Dysphonia |
| HP:0002061 | Lower limb spasticity |
| HP:0002063 | Rigidity |
| HP:0002093 | Respiratory insufficiency |
| 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
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 114585335 | PODMU11698 | ||
| 107582245 | SINGR27478 | ||
| 105291862 | PTEVA08444 | ||
| 115401181 | SALFA47570 | ||
| 113487016 | ATHCN17509 | ||
| 105817364 | PROCO27097 | ||
| 109081047 | CYPCA113968 | ||
| 109086627 | CYPCA92633 | ||
| 103730507 | NANGA08234 | ||
| 116453889 | CORMO10037 |
