Inpp5f inositol polyphosphate-5-phosphatase F [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Inpp5fprovided by MGI
Official Full Name: inositol polyphosphate-5-phosphatase Fprovided by MGI
Primary source: MGI:MGI:2141867
See related: Ensembl:ENSMUSG00000042105 AllianceGenome:MGI:2141867
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: SAC2; cI-27; hSAC2; mKIAA0966; 5830435P03Rik
Summary: Enables inositol monophosphate 4-phosphatase activity and phosphatidylinositol phosphate 4-phosphatase activity. Involved in several processes, including negative regulation of axon regeneration; phosphatidylinositol dephosphorylation; and positive regulation of receptor recycling. Acts upstream of or within cardiac muscle hypertrophy in response to stress; phosphatidylinositol catabolic process; and phosphatidylinositol-mediated signaling. Located in several cellular components, including cytoplasmic vesicle; dendrite; and neuronal cell body. Is expressed in several structures, including brain; genitourinary system; heart; retina; and spleen. Orthologous to human INPP5F (inositol polyphosphate-5-phosphatase F). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E18 (RPKM 34.5), whole brain E14.5 (RPKM 23.5) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 70.32 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (128212905..128298161)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (128611181..128696436)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

INPP5F translocates into cytoplasm and interacts with ASPH to promote tumor growth in hepatocellular carcinoma.
Title: INPP5F translocates into cytoplasm and interacts with ASPH to promote tumor growth in hepatocellular carcinoma.
Absence of Sac2/INPP5F enhances the phenotype of a Parkinson's disease mutation of synaptojanin 1.
Title: Absence of Sac2/INPP5F enhances the phenotype of a Parkinson's disease mutation of synaptojanin 1.
Hyperglycemia and hyperlipidemia blunts the Insulin-Inpp5f negative feedback loop in the diabetic heart.
Title: Hyperglycemia and hyperlipidemia blunts the Insulin-Inpp5f negative feedback loop in the diabetic heart.
This study reveals Inpp5f (Sac2) as a novel suppressor of CNS axon repair after spinal cord injury
Title: Gene-Silencing Screen for Mammalian Axon Regeneration Identifies Inpp5f (Sac2) as an Endogenous Suppressor of Repair after Spinal Cord Injury.
Sac2/INPP5F is a PI4P phosphatase that colocalizes with OCRL on endocytic membranes.
Title: Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway.
Inpp5f-v3 is specifically expressed in mouse brain, and may function in the development of mouse brain
Title: Expression patterns of imprinted gene Inpp5f-v3 during mouse brain development.
Inpp5f is a polyphosphoinositide phosphatase that regulates cardiac hypertrophic responsiveness.
Title: Inpp5f is a polyphosphoinositide phosphatase that regulates cardiac hypertrophic responsiveness.
Study finds that the Inpp5f_v3 promoter acquires methylation at implantation, which is then lost specifically on the paternally derived allele during the latter stages development, resulting in imprinted activation on the demethylated allele.
Title: Allele-specific demethylation at an imprinted mammalian promoter.
A novel variant of Inpp5f is imprinted in brain, and its expression is correlated with differential methylation of an internal CpG island.
Title: A novel variant of Inpp5f is imprinted in brain, and its expression is correlated with differential methylation of an internal CpG island.

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Variation

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Alleles

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

Gene trapped (2)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH142764 (e-PCR)
- UniSTS:232011

BB366297 (e-PCR)
- UniSTS:208213

RH135855 (e-PCR)
- UniSTS:209853

Inpp5f (e-PCR), detects polymorphism
- UniSTS:502759

Inpp5f (e-PCR), detects polymorphism
- UniSTS:502760

Inpp5f (e-PCR), detects polymorphism
- UniSTS:502761

Inpp5f (e-PCR), detects polymorphism
- UniSTS:502762

Inpp5f (e-PCR), detects polymorphism
- UniSTS:502763

Inpp5f (e-PCR), detects polymorphism
- UniSTS:502764

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables inositol monophosphate 1-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables inositol monophosphate 3-phosphatase activity	IEA Inferred from Electronic Annotation more info
enables inositol monophosphate 4-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables inositol monophosphate phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol phosphate 4-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol phosphate 4-phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylinositol phosphate 4-phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4-phosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle hypertrophy in response to stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in clathrin-dependent endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of axon regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of peptidyl-serine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of tyrosine phosphorylation of STAT protein	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphatidylinositol catabolic process	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	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylinositol dephosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol dephosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor recycling	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell motility	ISO Inferred from Sequence Orthology more info
involved_in regulation of endocytic recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of endocytic recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of endocytic recycling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
is_active_in clathrin-coated endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in clathrin-coated endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated endocytic vesicle	ISO Inferred from Sequence Orthology more info
colocalizes_with clathrin-coated pit	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in recycling endosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: phosphatidylinositide phosphatase SAC2

Names: sac domain-containing inositol phosphatase 2; sac domain-containing phosphoinositide 4-phosphatase 2; sac domain-containing phosphoinositide 5-phosphatase 2

NP_001333446.1

EC 3.1.3.25

NP_848756.2

EC 3.1.3.25

XP_036008416.1

EC 3.1.3.25

XP_036008417.1

EC 3.1.3.25

XP_036008418.1

EC 3.1.3.25

XP_036008419.1

EC 3.1.3.25

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_001346517.1 → NP_001333446.1 phosphatidylinositide phosphatase SAC2 isoform 2

Status: VALIDATED

Source sequence(s)

AC122767, AK030870, BU708345, BU709063

Consensus CDS

CCDS85430.1

UniProtKB/Swiss-Prot

Q8CDA1

Related

ENSMUSP00000113700.2, ENSMUST00000118605.2
NM_178641.5 → NP_848756.2 phosphatidylinositide phosphatase SAC2 isoform 1

See identical proteins and their annotated locations for NP_848756.2

Status: VALIDATED

Source sequence(s)

AC122767

Consensus CDS

CCDS21899.1

UniProtKB/Swiss-Prot

Q3UCS0, Q6NX83, Q6ZQ16, Q8C8G7, Q8CBW2, Q8CDA1

UniProtKB/TrEMBL

B2RQ14

Related

ENSMUSP00000045910.7, ENSMUST00000043138.13

Conserved Domains (2) summary

pfam02383
Location:50 → 415

Syja_N; SacI homology domain

pfam12456
Location:595 → 697

hSac2; Inositol phosphatase

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_000073.7 Reference GRCm39 C57BL/6J

Range

128212905..128298161

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036152526.1 → XP_036008419.1 phosphatidylinositide phosphatase SAC2 isoform X4

Conserved Domains (1) summary

pfam02383
Location:50 → 223

Syja_N; SacI homology domain
XM_036152523.1 → XP_036008416.1 phosphatidylinositide phosphatase SAC2 isoform X1

Conserved Domains (2) summary

COG5329
Location:79 → 472

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

pfam12456
Location:500 → 601

hSac2; Inositol phosphatase
XM_036152524.1 → XP_036008417.1 phosphatidylinositide phosphatase SAC2 isoform X2

Conserved Domains (2) summary

COG5329
Location:7 → 400

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

pfam12456
Location:428 → 529

hSac2; Inositol phosphatase
XM_036152525.1 → XP_036008418.1 phosphatidylinositide phosphatase SAC2 isoform X3

Related

ENSMUSP00000146197.2, ENSMUST00000151237.5