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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 |
|---|---|---|
| inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity | ||
| inositol-1,4,5-trisphosphate 5-phosphatase activity | ||
| phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | ||
| vasopressin receptor activity | ||
| lipid 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:0000007 | Autosomal recessive inheritance |
| HP:0000135 | Hypogonadism |
| HP:0000252 | Microcephaly |
| HP:0000486 | Strabismus |
| HP:0000518 | Cataract |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000768 | Pectus carinatum |
| HP:0001156 | Brachydactyly |
| HP:0001167 | Abnormal finger morphology |
| 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 |
|---|---|---|---|
| 103111156 | ERIEU13613 | ||
| 100399558 | CALJA35819 | ||
| 100404632 | CALJA35819 | ||
| 105584255 | CERAT17249 | ||
| 721222 | MACMU14327 | ||
| 105471610 | MACNE31715 | ||
| 101011974 | PAPAN14773 | ||
| 105553494 | MANLE01908 | ||
| 101124081 | GORGO13519 | ||
| 100976910 | PANPA15978 |
