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 31 - 40 of 62 in total
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
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

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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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Last updated: December 9, 2024