Inpp5e inositol polyphosphate-5-phosphatase E [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Inpp5eprovided by MGI
Official Full Name: inositol polyphosphate-5-phosphatase Eprovided by MGI
Primary source: MGI:MGI:1927753
See related: Ensembl:ENSMUSG00000026925 AllianceGenome:MGI:1927753
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 72kDa; mKIAA0123; 1200002L24Rik
Summary: Enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Acts upstream of or within inositol phosphate dephosphorylation; negative regulation of protein localization to cilium; and phosphatidylinositol dephosphorylation. Located in Golgi membrane; axoneme; and nucleus. Is expressed in several structures, including alimentary system; eye; genitourinary system; nervous system; and respiratory system. Human ortholog(s) of this gene implicated in Joubert syndrome and Joubert syndrome 1. Orthologous to human INPP5E (inositol polyphosphate-5-phosphatase E). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 26.0), cerebellum adult (RPKM 16.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 18.88 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (26286261..26299313, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (26396249..26409244, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phylogenetic profiling and cellular analyses of ARL16 reveal roles in traffic of IFT140 and INPP5E.
Title: Phylogenetic profiling and cellular analyses of ARL16 reveal roles in traffic of IFT140 and INPP5E.
Deletion of the phosphatase INPP5E in the murine retina impairs photoreceptor axoneme formation and prevents disc morphogenesis.
Title: Deletion of the phosphatase INPP5E in the murine retina impairs photoreceptor axoneme formation and prevents disc morphogenesis.
INPP5E controls ciliary localization of phospholipids and the odor response in olfactory sensory neurons.
Title: INPP5E controls ciliary localization of phospholipids and the odor response in olfactory sensory neurons.
A transient role of the ciliary gene Inpp5e in controlling direct versus indirect neurogenesis in cortical development.
Title: A transient role of the ciliary gene Inpp5e in controlling direct versus indirect neurogenesis in cortical development.
Inpp5e attenuates Shh signaling in the neural tube through regulation of the relative timing of GliA and GliR production, which is important in understanding how the duration of Shh signaling regulates neural tube patterning.
Title: The ciliary phosphatidylinositol phosphatase Inpp5e plays positive and negative regulatory roles in Shh signaling.
It postulates a three-step mechanism regulating ciliary localization of INPP5E, consisting of farnesylation- and PDE6delta-mediated targeting, INPP5E-PDE6delta complex diffusion into the cilium with transfer to the IFT system, and retention inside cilia.
Title: Mechanism and dynamics of INPP5E transport into and inside the ciliary compartment.
The expression levels of the INPP5E gene in NTD mouse embryos were significantly lower compared with control embryos, at the time of neural tube closure (gestational day 11.5). The INPP5E gene regulates the process of embryonic neural development. Abnormal levels of expression of the INPP5E gene may contribute to NTDs.
Title: Relationship Between INPP5E Gene Expression and Embryonic Neural Development in a Mouse Model of Neural Tube Defect.
Therefore our study identifies a compartmentalized PtdIns(3,4,5)P3/AKT/GSK3beta signaling axis at cilia in SHH-dependent medulloblastoma that is regulated by INPP5E to maintain tumor cell cilia, promote SHH signaling and thereby medulloblastoma progression.
Title: A compartmentalized phosphoinositide signaling axis at cilia is regulated by INPP5E to maintain cilia and promote Sonic Hedgehog medulloblastoma.
we identify Inpp5e as an essential inhibitor of the PI3K/Akt/mTORC1 signaling axis in renal epithelial cells, and demonstrate a critical role for Inpp5e-dependent mTORC1 regulation in Polycystic kidney disease (PKD) suppression
Title: Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling.
INPP5E localizes to centrosomes, chromosomes, and kinetochores in early mitosis and shuttles to the midzone spindle at mitotic exit.
Title: INPP5E Preserves Genomic Stability through Regulation of Mitosis.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (7) 1 citation
Chemically induced (ENU) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:234350

NoName (e-PCR)
- UniSTS:234353

AU024582 (e-PCR)
- UniSTS:158933

NoName (e-PCR)
- UniSTS:224767

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables inositol-polyphosphate 5-phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate phosphatase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of translation	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phosphatidylinositol dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within phosphatidylinositol metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within phosphatidylinositol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in ruffle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: phosphatidylinositol polyphosphate 5-phosphatase type IV

Names: 72 kDa inositol polyphosphate 5-phosphatase; inositol polyphosphate-5-phosphatase, 72 kDa; phosphatidylinositol 4,5-bisphosphate 5-phosphatase; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase

NP_001277366.1

EC 3.1.3.36

EC 3.1.3.86

NP_149125.1

EC 3.1.3.36

EC 3.1.3.86

XP_036018337.1

EC 3.1.3.36

EC 3.1.3.86

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001290437.1 → NP_001277366.1 phosphatidylinositol polyphosphate 5-phosphatase type IV isoform b

See identical proteins and their annotated locations for NP_001277366.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, and uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.

Source sequence(s)

AK085439, BC052717

Consensus CDS

CCDS71007.1

UniProtKB/TrEMBL

A2AIX0, Q3TZ34

Related

ENSMUSP00000109724.2, ENSMUST00000114090.8

Conserved Domains (2) summary

cd09095
Location:298 → 596

INPP5c_INPP5E-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Inositol polyphosphate-5-phosphatase E and related proteins

PHA03246
Location:14 → 166

PHA03246; large tegument protein UL36; Provisional
NM_033134.3 → NP_149125.1 phosphatidylinositol polyphosphate 5-phosphatase type IV isoform a

See identical proteins and their annotated locations for NP_149125.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AL732541, BC052717

Consensus CDS

CCDS15805.1

UniProtKB/Swiss-Prot

Q3TCC9, Q9JII1

UniProtKB/TrEMBL

Q3TZ34

Related

ENSMUSP00000119485.2, ENSMUST00000145701.8

Conserved Domains (2) summary

cd09095
Location:298 → 596

INPP5c_INPP5E-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Inositol polyphosphate-5-phosphatase E and related proteins

PHA03246
Location:14 → 166

PHA03246; large tegument protein UL36; Provisional

RNA

NR_110957.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL732541, BC052717, BC057566

Related

ENSMUST00000028291.15

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

26286261..26299313 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036162444.1 → XP_036018337.1 phosphatidylinositol polyphosphate 5-phosphatase type IV isoform X1

UniProtKB/Swiss-Prot

Q3TCC9, Q9JII1

UniProtKB/TrEMBL

Q3TZ34

Conserved Domains (2) summary

cd09095
Location:298 → 596

INPP5c_INPP5E-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Inositol polyphosphate-5-phosphatase E and related proteins

PHA03246
Location:14 → 166

PHA03246; large tegument protein UL36; Provisional