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)
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
The Human Phenotype Ontology
Displaying entries 61 - 62 of 62 in total
HPO ID HPO Term
HP:0012400 Abnormal circulating aldolase concentration
HP:0100660 Dyskinesia
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