Fig4 FIG4 phosphoinositide 5-phosphatase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fig4provided by MGI
Official Full Name: FIG4 phosphoinositide 5-phosphataseprovided by MGI
Primary source: MGI:MGI:2143585
See related: Ensembl:ENSMUSG00000038417 AllianceGenome:MGI:2143585
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: Sac3; A530089I17Rik
Summary: Predicted to enable phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity; phosphatidylinositol-3-phosphate phosphatase activity; and phosphatidylinositol-4-phosphate phosphatase activity. Acts upstream of or within several processes, including negative regulation of myelination; nervous system development; and phosphatidylinositol metabolic process. Predicted to be located in endosome membrane; lipid droplet; and recycling endosome. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in nervous system; nucleus pulposus; thymus primordium; and vibrissa. Used to study Charcot-Marie-Tooth disease type 4J and Yunis-Varon syndrome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome; amyotrophic lateral sclerosis type 11; and bilateral parasagittal parieto-occipital polymicrogyria. Orthologous to human FIG4 (FIG4 phosphoinositide 5-phosphatase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in heart adult (RPKM 7.1), CNS E18 (RPKM 6.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B1; 10 22.08 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (41064168..41179237, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (41188172..41303241, complement)

Chromosome 10 - NC_000076.7 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 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?

Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.
Title: Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.
The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
Title: The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model.
Title: AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model.
in the adult PNS Fig4 is required to protect myelinated axons from Wallerian degeneration. In the adult CNS, Fig4 is dispensable for fiber stability and nerve conduction, but is required for the timely repair of damaged white matter. The greater vulnerability of the PNS to Fig4 deficiency in the mouse is consistent with clinical observations in patients with Charcot-Marie-Tooth disease.
Title: Protective role of the lipid phosphatase Fig4 in the adult nervous system.
Neuronal expression of Fig4(C486S) transgene prevents neonatal neurodegeneration & juvenile lethality seen in Fig4-/- mice. However, later in life Fig4(C486S) causes significant abnormalities: hydrocephalus, defective myelination &reduced lifespan
Title: Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.
Inactivation of Fig4 in motor neurons display neuronal and axonal degeneration.
Title: Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
Fig4 expression in the neurons is both necessary and sufficient to prevent spongiform neurodegeneration
Title: Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.
Haploinsufficiency of Fig4 does not impose risks in rodents to develop neuronal degeneration in either naive or traumatic conditions.
Title: Trauma does not accelerate neuronal degeneration in Fig4 insufficient mice.
Here we provide strong evidence that Mtmr2 and Fig4 functionally interact in both Schwann cells and neurons, and we reveal for the first time a role of Mtmr2 in neurons in vivo
Title: Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.
Fig4 may be required to prevent neurons and glia from excessive lysosomal accumulation after injury and in neurodegeneration.
Title: Fig4 expression in the rodent nervous system and its potential role in preventing abnormal lysosomal accumulation.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

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

Endonuclease-mediated (1)
Gene trapped (1)
Spontaneous (1) 1 citation
Targeted (1) 1 citation

General gene information

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Markers

08.MMHAP53FLC2.seq (e-PCR)
- UniSTS:122938

AI326867 (e-PCR)
- UniSTS:164437

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phosphatidylinositol bisphosphate 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	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3-phosphate phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3-phosphate phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4-phosphate phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4-phosphate phosphatase activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine phosphatase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myelin assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of myelination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of myelination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of myelination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of myelination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol dephosphorylation	IEA Inferred from Electronic Annotation more info
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 pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within vacuole organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	IEA Inferred from Electronic Annotation more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: polyphosphoinositide phosphatase

Names: FIG4 homolog; SAC domain-containing protein 3; Sac domain-containing inositol phosphatase 3; phosphatidylinositol 3,5-bisphosphate 5-phosphatase; serine-protein phosphatase FIG4

NP_598760.1

EC 3.1.3.16

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_133999.1 → NP_598760.1 polyphosphoinositide phosphatase

See identical proteins and their annotated locations for NP_598760.1

Status: VALIDATED

Source sequence(s)

BC015295

Consensus CDS

CCDS23803.1

UniProtKB/Swiss-Prot

Q6A092, Q91WF7

UniProtKB/TrEMBL

Q3TA31

Related

ENSMUSP00000039598.4, ENSMUST00000043814.5

Conserved Domains (2) summary

COG5329
Location:14 → 636

COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]

pfam02383
Location:93 → 423

Syja_N; SacI homology domain