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 31 - 40 of 183 in total
DO ID Disease Name Source
DOID:0110231 cataract 1 multiple types
DOID:0110232 cataract 29
DOID:0110233 cataract 27
DOID:0110234 cataract 4 multiple types
DOID:0110235 cataract 2 multiple types
DOID:0110236 cataract 39 multiple types
DOID:0110237 cataract 42
DOID:0110238 cataract 18
DOID:0110239 cataract 12 multiple types
DOID:0110240 cataract 20 multiple types
The Human Phenotype Ontology
Displaying entries 41 - 50 of 62 in total
HPO ID HPO Term
HP:0003306 Spinal rigidity
HP:0003307 Hyperlordosis
HP:0003391 Gowers sign
HP:0003510 Severe short stature
HP:0003552 Muscle stiffness
HP:0003560 Muscular dystrophy
HP:0003577 Congenital onset
HP:0003593 Infantile onset
HP:0003676 Progressive
HP:0003701 Proximal muscle weakness
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