inositol polyphosphate-5-phosphatase K

Summary
Gene Symbol
  • INPP5K
Aliases
  • SKIP
  • skeletal muscle and kidney enriched inositol phosphatase
Organism
Homo sapiens (human)
NCBI Gene
51763
HGNC
33882
KEGG Gene ID
hsa:51763
PubChem
51763
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cataract
  • Congenital muscular dystrophy
  • Cytoplasm
  • Disease variant
  • Endoplasmic reticulum
  • Hydrolase
  • Intellectual disability
  • Lipid metabolism
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
Q9BT40
  • Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase
  • Phosphatidylinositol-4,5-bisphosphate 5-phosphatase
  • Skeletal muscle and kidney-enriched inositol phosphatase
Gene Ontology (GO)
Displaying entries 36 - 37 of 37 in total
GO Term Evidence Code PMID
cellular response to tumor necrosis factor
negative regulation of protein kinase activity
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Inositol polyphosphate 5-phosphatase
Functional Category
  • E: Amino acid transport and metabolism
  • Q: Secondary metabolites biosynthesis, transport and catabolism
  • T: Signal transduction mechanisms
KEGG BRITE Database
Orthology
K24222
Name
inositol polyphosphate 5-phosphatase INPP5J/K [EC:3.1.3.56]
References
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability
The Human Phenotype Ontology
Displaying entries 11 - 20 of 62 in total
HPO ID HPO Term
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001251 Ataxia
HP:0001252 Hypotonia
HP:0001257 Spasticity
HP:0001260 Dysarthria
HP:0001263 Global developmental delay
HP:0001265 Hyporeflexia
HP:0001270 Motor delay
HP:0001276 Hypertonia
Displaying all 2 entries
Disease ID Disease Name
OMIM:617404
  • congenital muscular dystrophy with cataracts and intellectual disability
ORPHA:559
  • Marinesco-Sjogren syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002367
Gene Name
inositol polyphosphate-5-phosphatase K
Ortholog
Displaying entries 81 - 83 of 83 in total
Species Gene ID OrthoDB Alliance of Genome Resources Orthologous MAtrix
118886220 BALMU11242
123777088 URSAM15043
129018253 9600_0:0042e8

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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