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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 |
|---|---|---|
| positive regulation of renal water transport | ||
| negative regulation of glucose transmembrane transport |
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 Term | Evidence Code | PMID |
|---|---|---|
| trans-Golgi network | ||
| neuron projection | ||
| plasma membrane | ||
| membrane | ||
| perinuclear region of cytoplasm |
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:0014667 | disease of metabolism | |
| DOID:0050557 | congenital muscular dystrophy | |
| DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
| DOID:0050629 | Aicardi-Goutieres syndrome | |
| DOID:0060249 | scoliosis | |
| DOID:0060255 | rippling muscle disease 2 | |
| DOID:0060891 | Parkinson's disease 19A | |
| DOID:0060895 | Parkinson's disease 4 | |
| DOID:0060896 | Parkinson's disease 23 | |
| DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003306 | Spinal rigidity |
| HP:0003307 | Hyperlordosis |
| HP:0003391 | Gowers sign |
| HP:0003510 | Severe short stature |
| HP:0003552 | Muscle stiffness |
| HP:0003560 | Muscular dystrophy |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003676 | Progressive |
| HP:0003701 | Proximal muscle weakness |
| 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 |
|---|---|---|---|
| 177970 | WB:WBGene00012016 | ||
| 183643 | WB:WBGene00086546 | ||
| 32629 | FB:FBgn0030761 | ||
| 36911 | FB:FBgn0034179 | ||
| 103180576 | CALMI20696 | ||
| 102349489 | LATCH05930 | ||
| 100037338 | ZFIN:ZDB-GENE-070410-101 | DANRE08998 | |
| 566188 | ZFIN:ZDB-GENE-100408-3 | ||
| 103044237 | ASTMX13729 | ||
| 108277943 | ICTPU09831 |
