InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: INPP5E

Summary

InnateDB Protein

IDBP-92395.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

INPP5E

Protein Name

inositol polyphosphate-5-phosphatase, 72 kDa

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000360777

InnateDB Gene

IDBG-92393 (INPP5E)

Protein Structure

UniProt Annotation

Function

Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates, inactive towards water soluble inositol phosphates. {ECO:0000269PubMed:10764818}.

Subcellular Localization

Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269PubMed:19668215, ECO:0000269PubMed:19668216}. Golgi apparatus, Golgi stack membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Peripheral membrane protein associated with Golgi stacks. {ECO:0000250}.

Disease Associations

Joubert syndrome 1 (JBTS1) [MIM:213300]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269PubMed:19668216}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORMS) [MIM:610156]: An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. {ECO:0000269PubMed:19668215}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in brain, heart, pancreas, testis and spleen. {ECO:0000269PubMed:10764818}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0004445	inositol-polyphosphate 5-phosphatase activity

Biological Process

GO:0006644	phospholipid metabolic process
GO:0006661	phosphatidylinositol biosynthetic process
GO:0008150	biological_process
GO:0044281	small molecule metabolic process
GO:0046488	phosphatidylinositol metabolic process
GO:0046855	inositol phosphate dephosphorylation
GO:0046856	phosphatidylinositol dephosphorylation