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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 |
|---|---|---|
| cellular response to insulin stimulus | ||
| phosphatidylinositol dephosphorylation | ||
| in utero embryonic development | ||
| cellular response to epidermal growth factor stimulus | ||
| negative regulation of calcium ion 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 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:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
| DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
| DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
| DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
| DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
| DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| DOID:2468 | psychotic disorder | |
| DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
| DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
| DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002334 | Abnormal cerebellar vermis morphology |
| HP:0002650 | Scoliosis |
| HP:0002673 | Coxa valga |
| HP:0002808 | Kyphosis |
| HP:0002827 | Hip dislocation |
| HP:0003198 | Myopathy |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003241 | External genital hypoplasia |
| 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 |
