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Inpp5b inositol polyphosphate-5-phosphatase B [ Mus musculus (house mouse) ]

Gene ID: 16330, updated on 21-Apr-2024

Summary

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Official Symbol
Inpp5bprovided by MGI
Official Full Name
inositol polyphosphate-5-phosphatase Bprovided by MGI
Primary source
MGI:MGI:103257
See related
Ensembl:ENSMUSG00000028894 AllianceGenome:MGI:103257
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
5PTase; INPP5P
Summary
This gene encodes a member of the inositol polyphosphate-5-phosphatase (INPP5) family. This protein hydrolyzes the 5' phosphate from phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol-1,4,5-trisphosphate, which results in changes to multiple signaling pathways. This protein may be involved in protein trafficking and secretion. Homozygous knockout mice exhibit impaired spermatogenesis and male sterility. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Expression
Ubiquitous expression in lung adult (RPKM 14.1), thymus adult (RPKM 13.5) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
4 D2.2; 4 57.89 cM
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (124635620..124695304)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (124741827..124801511)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene splicing factor 3a, subunit 3 Neighboring gene microRNA 697 Neighboring gene predicted gene 12915 Neighboring gene predicted gene, 32117 Neighboring gene STARR-positive B cell enhancer ABC_E4664 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:124430874-124431061 Neighboring gene microRNA 698 Neighboring gene STARR-positive B cell enhancer ABC_E7986 Neighboring gene metal response element binding transcription factor 1 Neighboring gene STARR-seq mESC enhancer starr_11345 Neighboring gene RIKEN cDNA 1110065P20 gene Neighboring gene predicted gene, 54256

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. Multivariate analysis of male reproductive function in Inpp5b-/- mice reveals heterogeneity in defects in fertility, sperm-egg membrane interaction and proteolytic cleavage of sperm ADAMs. Marcello MR, et al. Mol Hum Reprod, 2010 Jul. PMID 20403911, Free PMC Article
  2. The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease. Ooms LM, et al. Biochem J, 2009 Apr 1. PMID 19272022
  3. Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase. Hellsten E, et al. Biol Reprod, 2002 May. PMID 11967219
  4. Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. Inoue K, et al. J Am Soc Nephrol, 2017 May. PMID 27895154, Free PMC Article
  5. Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. Bothwell SP, et al. J Am Soc Nephrol, 2011 Mar. PMID 21183592, Free PMC Article

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These results suggest that the functions of OCRL/INPP5B and proton-chloride exchange transporter 5 converge on shared mechanisms, the impairment of which has a dramatic effect on proximal tubule endocytosis
    Title: Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy.
  2. study found mouse Inpp5b and human INPP5B differ in their transcription, splicing and amino acid sequence; observations form foundation for analyzing the functional basis for the difference in how Inpp5b and INPP5B compensate for loss of Ocrl function
    Title: Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.
  3. ADAM cleavage was only modestly impaired in numerous Inpp5b-null males and varied between individual animals.
    Title: Multivariate analysis of male reproductive function in Inpp5b-/- mice reveals heterogeneity in defects in fertility, sperm-egg membrane interaction and proteolytic cleavage of sperm ADAMs.
  4. These results indicate a functional overlap of Ocrl and Inpp5b in most cell lineages, especially in extraembryonic tissues.
    Title: X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice.
  5. Inpp5b role in the regulation of cell adhesion in the testis and in the formation of junctional complexes with neighboring cells
    Title: Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase.
  6. 72-5ptase expression promoted GLUT4 trafficking via a Rab11-dependent pathway but not by Rab5-mediated endocytosis. Therefore, endogenous PtdIns(3)P at the plasma membrane promotes GLUT4 translocation.
    Title: Phosphatidylinositol 3-phosphate [PtdIns3P] is generated at the plasma membrane by an inositol polyphosphate 5-phosphatase: endogenous PtdIns3P can promote GLUT4 translocation to the plasma membrane.
Submit: New GeneRIF Correction

Variation

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Alleles

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

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 hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables inositol phosphate phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables inositol-1,4,5-trisphosphate 5-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables inositol-1,4,5-trisphosphate 5-phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables inositol-1,4,5-trisphosphate 5-phosphatase activity ISO
Inferred from Sequence Orthology
more info
  
enables inositol-polyphosphate 5-phosphatase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables 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 5-phosphatase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within in utero embryonic development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylinositol dephosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phosphatidylinositol dephosphorylation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of protein processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
type II inositol 1,4,5-trisphosphate 5-phosphatase
Names
inositol polyphosphate-5-phosphatase, 75 kDa
phosphoinositide 5-phosphatase
NP_032411.3
XP_006502867.1
XP_006502868.1

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_008385.4 → NP_032411.3  type II inositol 1,4,5-trisphosphate 5-phosphatase precursor

    See identical proteins and their annotated locations for NP_032411.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.
    Source sequence(s)
    AK163187, BE988792, BE996479, BG802289, BU610644, BU701664, BU921160, BY778295, CA315937, CA320508, CK390048, DV654857
    Consensus CDS
    CCDS38876.1
    UniProtKB/Swiss-Prot
    O54996, Q8CF65, Q8K337, Q91ZF8
    UniProtKB/TrEMBL
    A0A2X0SG17
    Related
    ENSMUSP00000092375.4, ENSMUST00000094782.10
    Conserved Domains (3) summary
    cd09093
    Location:345 → 638
    INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins
    cd04380
    Location:772 → 990
    RhoGAP_OCRL1; RhoGAP_OCRL1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate ...
    pfam16776
    Location:6 → 150
    INPP5B_PH; Type II inositol 1,4,5-trisphosphate 5-phosphatase PH domain

RNA

  1. NR_126474.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon 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)
    AA289577, AA881781, AK004722, AK163187, AL606933, BE988792, BU701664, BY778295, CA315937, CA320508
    Related
    ENSMUST00000184454.8

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_000070.7 Reference GRCm39 C57BL/6J

    Range
    124635620..124695304
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006502804.3 → XP_006502867.1  type II inositol 1,4,5-trisphosphate 5-phosphatase isoform X1

    See identical proteins and their annotated locations for XP_006502867.1

    UniProtKB/TrEMBL
    A0A2X0SG17
    Conserved Domains (3) summary
    cd09093
    Location:346 → 639
    INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins
    cd04380
    Location:773 → 991
    RhoGAP_OCRL1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate 5-phosphatase domain and ...
    pfam16776
    Location:1 → 150
    INPP5B_PH; Type II inositol 1,4,5-trisphosphate 5-phosphatase PH domain

  2. XM_006502805.3 → XP_006502868.1  type II inositol 1,4,5-trisphosphate 5-phosphatase isoform X1

    See identical proteins and their annotated locations for XP_006502868.1

    UniProtKB/TrEMBL
    A0A2X0SG17
    Conserved Domains (3) summary
    cd09093
    Location:346 → 639
    INPP5c_INPP5B; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of Type II inositol polyphosphate 5-phosphatase I, Oculocerebrorenal syndrome of Lowe 1, and related proteins
    cd04380
    Location:773 → 991
    RhoGAP_OCRL1; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in OCRL1-like proteins. OCRL1 (oculocerebrorenal syndrome of Lowe 1)-like proteins contain two conserved domains: a central inositol polyphosphate 5-phosphatase domain and ...
    pfam16776
    Location:1 → 150
    INPP5B_PH; Type II inositol 1,4,5-trisphosphate 5-phosphatase PH domain

RNA

  1. XR_004941817.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K337.1 GenPept UniProtKB/Swiss-Prot:Q8K337

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