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

Gene ID: 64436, updated on 5-Mar-2024

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in Golgi apparatus 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 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

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_001290437.1NP_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:298596
    INPP5c_INPP5E-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Inositol polyphosphate-5-phosphatase E and related proteins
    PHA03246
    Location:14166
    PHA03246; large tegument protein UL36; Provisional
  2. NM_033134.3NP_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:298596
    INPP5c_INPP5E-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Inositol polyphosphate-5-phosphatase E and related proteins
    PHA03246
    Location:14166
    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_036162444.1XP_036018337.1  phosphatidylinositol polyphosphate 5-phosphatase type IV isoform X1

    UniProtKB/Swiss-Prot
    Q3TCC9, Q9JII1
    UniProtKB/TrEMBL
    Q3TZ34
    Conserved Domains (2) summary
    cd09095
    Location:298596
    INPP5c_INPP5E-like; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Inositol polyphosphate-5-phosphatase E and related proteins
    PHA03246
    Location:14166
    PHA03246; large tegument protein UL36; Provisional