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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 |
|---|---|---|
| protein localization to plasma membrane | ||
| negative regulation of glycogen biosynthetic process | ||
| negative regulation of single stranded viral RNA replication via double stranded DNA intermediate | ||
| negative regulation of protein phosphorylation | ||
| positive regulation of transcription, DNA-templated |
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:0110241 | cataract 41 | |
| DOID:0110242 | cataract 13 with adult i phenotype | |
| DOID:0110243 | cataract 46 juvenile-onset | |
| DOID:0110245 | cataract 38 | |
| DOID:0110246 | cataract 26 multiple types | |
| DOID:0110248 | cataract 30 | |
| DOID:0110249 | cataract 11 multiple types | |
| DOID:0110250 | cataract 16 multiple types | |
| DOID:0110251 | cataract 15 multiple types | |
| DOID:0110252 | cataract 37 |
- 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 |
|---|---|---|---|
| 110222149 | PHACI22919 | ||
| 101041430 | SAIBB15775 | ||
| 101597543 | JACJA19705 | ||
| 102440108 | MYOLU11610 | ||
| 117013726 | RHIFE07175 | ||
| 100231908 | TAEGU07512 | ||
| 103242115 | CHLSB05056 | ||
| 108524657 | RHIBE17304 | ||
| 104670313 | RHIRO24550 | ||
| 100601583 | NOMLE16260 |
