inositol polyphosphate-5-phosphatase E

Summary
Gene Symbol
  • INPP5E
Aliases
  • CORS1
  • PPI5PIV
  • Phosphatidylinositol polyphosphate 5-phosphatase type IV
  • pharbin
Organism
Homo sapiens (human)
External Links
NCBI Gene
56623
HGNC
21474
KEGG Gene ID
hsa:56623
PubChem
56623
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Cilium
  • Cytoskeleton
  • Disease variant
  • Golgi apparatus
  • Hydrolase
  • Intellectual disability
  • Joubert syndrome
  • Lipid metabolism
  • Methylation
  • Nucleus
  • Obesity
  • Phosphoprotein
  • Prenylation
  • Reference proteome
  • Repeat
Proteins
Displaying 1 entry
UniProt Protein Name
Q9NRR6
  • 72 kDa inositol polyphosphate 5-phosphatase
  • Inositol polyphosphate-5-phosphatase E
  • Phosphatidylinositol 4,5-bisphosphate 5-phosphatase
  • Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase
Gene Ontology (GO)
Displaying entries 6 - 7 of 7 in total
GO Term Evidence Code PMID
phosphatidylinositol dephosphorylation
negative regulation of protein localization to cilium
GO Hierarchy
Human Protein Atlas
ENSG00000148384

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K20278
Name
inositol polyphosphate 5-phosphatase INPP5E [EC:3.1.3.36]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 97 in total
DO ID Disease Name Source
DOID:0050144 Kartagener syndrome
DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome
DOID:0050777 Joubert syndrome
DOID:0050778 Meckel syndrome
DOID:0050902 medulloblastoma
DOID:0060216 Cogan syndrome
DOID:0060249 scoliosis
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
DOID:0060320 inguinal hernia
The Human Phenotype Ontology
Displaying entries 111 - 116 of 116 in total
HPO ID HPO Term
HP:0011933 Elongated superior cerebellar peduncle
HP:0011968 Feeding difficulties
HP:0030680 Abnormal cardiovascular system morphology
HP:0100626 Chronic hepatic failure
HP:0100951 Enlarged fossa interpeduncularis
HP:0200096 Triangular-shaped open mouth
Displaying all 6 entries
Disease ID Disease Name
ORPHA:75858
  • MORM syndrome
ORPHA:475
  • Joubert syndrome
OMIM:213300
  • Joubert syndrome 1
ORPHA:220493
  • Joubert syndrome with ocular defect
OMIM:610156
  • MORM syndrome
ORPHA:1454
  • COACH syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002353
Gene Name
inositol polyphosphate-5-phosphatase, 72 kDa

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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