inositol polyphosphate-5-phosphatase K

Summary
Gene Symbol
  • INPP5K
Aliases
  • SKIP
  • skeletal muscle and kidney enriched inositol phosphatase
Organism
Homo sapiens (human)
External Links
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
KEGG BRITE Database
Orthology
K24222
Name
inositol polyphosphate 5-phosphatase INPP5J/K [EC:3.1.3.56]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 183 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050557 congenital muscular dystrophy
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0050629 Aicardi-Goutieres syndrome
DOID:0060249 scoliosis
DOID:0060255 rippling muscle disease 2
DOID:0060891 Parkinson's disease 19A
DOID:0060895 Parkinson's disease 4
DOID:0060896 Parkinson's disease 23
DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 62 in total
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
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: August 19, 2024