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

Gene ID: 64436, updated on 27-Nov-2024

Summary

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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 several processes, including negative regulation of protein localization to cilium; phosphatidylinositol dephosphorylation; and response to inositol. 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, Nov 2024]
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

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See Inpp5e in Genome Data Viewer
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_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene 13562 Neighboring gene small nuclear RNA activating complex, polypeptide 4 Neighboring gene endosome associated trafficking regulator 1 Neighboring gene peptidase (mitochondrial processing) alpha Neighboring gene STARR-positive B cell enhancer ABC_E5900 Neighboring gene SEC16 homolog A, endoplasmic reticulum export factor Neighboring gene RIKEN cDNA 0610009E02 gene Neighboring gene STARR-positive B cell enhancer ABC_E1241 Neighboring gene STARR-seq mESC enhancer starr_03982 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:26316530-26316713 Neighboring gene notch 1 Neighboring gene microRNA 6996

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. PIP(2) determines length and stability of primary cilia by balancing membrane turnovers. Stilling S, et al. Commun Biol, 2022 Jan 25. PMID 35079141, Free PMC Article
  2. Relationship Between INPP5E Gene Expression and Embryonic Neural Development in a Mouse Model of Neural Tube Defect. Yue H, et al. Med Sci Monit, 2018 Apr 7. PMID 29626185, Free PMC Article
  3. Deletion of the phosphatase INPP5E in the murine retina impairs photoreceptor axoneme formation and prevents disc morphogenesis. Sharif AS, et al. J Biol Chem, 2021 Jan-Jun. PMID 33711342, Free PMC Article
  4. Modulation of Ciliary Phosphoinositide Content Regulates Trafficking and Sonic Hedgehog Signaling Output. Chávez M, et al. Dev Cell, 2015 Aug 10. PMID 26190144
  5. Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling. Hakim S, et al. Hum Mol Genet, 2016 Jun 1. PMID 27056978

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables inositol-polyphosphate 5-phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables inositol-polyphosphate 5-phosphatase activity ISO
Inferred from Sequence Orthology
more info
  
enables phosphatidylinositol-3,4,5-trisphosphate 3-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-3,5-bisphosphate 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 cilium assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction 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 IEA
Inferred from Electronic Annotation
more info
  
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 
involved_in phosphatidylinositol-3-phosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within response to inositol IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi cisterna membrane IEA
Inferred from Electronic Annotation
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 cilium IDA
Inferred from Direct Assay
more info
 PubMed 
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 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
NP_149125.1
XP_036018337.1

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)

  1. 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

  2. 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

  1. 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

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    26286261..26299313 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9JII1.1 GenPept UniProtKB/Swiss-Prot:Q9JII1

Gene LinkOut

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