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

Summary

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

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

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.
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.
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.
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.
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.
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)

Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Inpp5b (e-PCR), detects polymorphism
- UniSTS:259331

AF040094 (e-PCR)
- UniSTS:159285

AW260155 (e-PCR)
- UniSTS:179061

D4Nds2 (e-PCR), detects polymorphism
- UniSTS:142474

Inpp5b (e-PCR), detects polymorphism
- UniSTS:143592

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

EC 3.1.3.36

XP_006502867.1

EC 3.1.3.36

XP_006502868.1

EC 3.1.3.36

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_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

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

NC_000070.7 Reference GRCm39 C57BL/6J

Range

124635620..124695304

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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