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)
Displaying entries 36 - 37 of 37 in total
GO Term Evidence Code PMID
positive regulation of renal water transport
negative regulation of glucose transmembrane transport
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 121 - 130 of 183 in total
DO ID Disease Name Source
DOID:1287 cardiovascular system disease
DOID:1307 dementia
DOID:13174 dissociated nystagmus
DOID:14261 fragile X syndrome
DOID:14320 generalized anxiety disorder
DOID:14330 Parkinson's disease
DOID:14415 Legg-Calve-Perthes disease
DOID:1443 cerebral degeneration
DOID:14525 Reye syndrome
DOID:1470 major depressive disorder
The Human Phenotype Ontology
Displaying entries 51 - 60 of 62 in total
HPO ID HPO Term
HP:0004279 Short palm
HP:0004322 Short stature
HP:0005743 Avascular necrosis of the capital femoral epiphysis
HP:0005916 Abnormal metacarpal morphology
HP:0007126 Proximal amyotrophy
HP:0009126 Increased adipose tissue
HP:0009830 Peripheral neuropathy
HP:0010508 Metatarsus valgus
HP:0010547 Muscle flaccidity
HP:0011463 Childhood onset
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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024