The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] See more...

Aliases for INPP5F Gene

Aliases for INPP5F Gene

  • Inositol Polyphosphate-5-Phosphatase F 2 3 5
  • SAC2 2 3 4
  • Sac Domain-Containing Phosphoinositide 4-Phosphatase 2 3 4
  • Sac Domain-Containing Inositol Phosphatase 2 3 4
  • Phosphatidylinositide Phosphatase SAC2 3 4
  • KIAA0966 2 4
  • HSAC2 3 4
  • Sac Domain-Containing Phosphoinositide 5-Phosphatase 2 3
  • Inositol Polyphosphate 5-Phosphatase F 4
  • EC 3.1.3.16 51
  • EC 3.1.3.36 51
  • EC 3.1.3.25 4
  • EC 3.1.3 51
  • MSTP007 3
  • MSTPO47 3
  • INPP5F 5
  • HSac2 2

External Ids for INPP5F Gene

Previous GeneCards Identifiers for INPP5F Gene

  • GC10P121616
  • GC10P121150
  • GC10P121475
  • GC10P115115
  • GC10P121485
  • GC10P119726

Summaries for INPP5F Gene

Entrez Gene Summary for INPP5F Gene

  • The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

GeneCards Summary for INPP5F Gene

INPP5F (Inositol Polyphosphate-5-Phosphatase F) is a Protein Coding gene. Diseases associated with INPP5F include Foramen Magnum Meningioma and Parkinson Disease 21. Among its related pathways are Inositol phosphate metabolism (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphoric ester hydrolase activity. An important paralog of this gene is SYNJ1.

UniProtKB/Swiss-Prot Summary for INPP5F Gene

  • Inositol 4-phosphatase which mainly acts on phosphatidylinositol 4-phosphate. May be functionally linked to OCRL, which converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol, for a sequential dephosphorylation of phosphatidylinositol 4,5-bisphosphate at the 5 and 4 position of inositol, thus playing an important role in the endocytic recycling (PubMed:25869669). Regulator of TF:TFRC and integrins recycling pathway, is also involved in cell migration mechanisms (PubMed:25869669). Modulates AKT/GSK3B pathway by decreasing AKT and GSK3B phosphorylation (PubMed:17322895). Negatively regulates STAT3 signaling pathway through inhibition of STAT3 phosphorylation and translocation to the nucleus (PubMed:25476455). Functionally important modulator of cardiac myocyte size and of the cardiac response to stress (By similarity). May play a role as negative regulator of axon regeneration after central nervous system injuries (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INPP5F Gene

Genomics for INPP5F Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for INPP5F Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INPP5F on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for INPP5F

Top Transcription factor binding sites by QIAGEN in the INPP5F gene promoter:
  • AML1a
  • FOXF2
  • MIF-1
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha2
  • S8
  • TBP
  • TFIID

Genomic Locations for INPP5F Gene

Genomic Locations for INPP5F Gene
chr10:119,704,395-119,830,482
(GRCh38/hg38)
Size:
126,088 bases
Orientation:
Plus strand
chr10:121,485,609-121,588,659
(GRCh37/hg19)
Size:
103,051 bases
Orientation:
Plus strand

Genomic View for INPP5F Gene

Genes around INPP5F on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INPP5F Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INPP5F Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INPP5F Gene

Proteins for INPP5F Gene

  • Protein details for INPP5F Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2H2-SAC2_HUMAN
    Recommended name:
    Phosphatidylinositide phosphatase SAC2
    Protein Accession:
    Q9Y2H2
    Secondary Accessions:
    • B3KRF1
    • D3DRD1
    • Q2T9J4
    • Q5W135
    • Q5W136
    • Q6NVY2
    • Q86U97
    • Q9H3D9
    • Q9NT51

    Protein attributes for INPP5F Gene

    Size:
    1132 amino acids
    Molecular mass:
    128407 Da
    Quaternary structure:
    • Homodimer (PubMed:25869669). Interacts with OCRL and RAB5A (PubMed:25869668). Interacts with INPP5B and INPP4A (PubMed:25869668). Interacts with STAT3; the interaction is independent of STAT3 'TYR-705' phosphorylation status (PubMed:25476455).
    SequenceCaution:
    • Sequence=BAA76810.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for INPP5F Gene

    Alternative splice isoforms for INPP5F Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INPP5F Gene

Selected DME Specific Peptides for INPP5F Gene

Q9Y2H2:
  • QTRGSVP
  • FVQTRGS
  • IGDAYLK
  • DCLDRTN
  • NCMDCLDRTNV

Post-translational modifications for INPP5F Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for INPP5F Gene

Gene Families for INPP5F Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for INPP5F Gene

InterPro:
Blocks:
  • Synaptojanin, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for INPP5F Gene

GenScript: Design optimal peptide antigens:
  • Sac domain-containing phosphoinositide 5-phosphatase 2 (SAC2_HUMAN)
genes like me logo Genes that share domains with INPP5F: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for INPP5F Gene

Function for INPP5F Gene

Molecular function for INPP5F Gene

UniProtKB/Swiss-Prot Function:
Inositol 4-phosphatase which mainly acts on phosphatidylinositol 4-phosphate. May be functionally linked to OCRL, which converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol, for a sequential dephosphorylation of phosphatidylinositol 4,5-bisphosphate at the 5 and 4 position of inositol, thus playing an important role in the endocytic recycling (PubMed:25869669). Regulator of TF:TFRC and integrins recycling pathway, is also involved in cell migration mechanisms (PubMed:25869669). Modulates AKT/GSK3B pathway by decreasing AKT and GSK3B phosphorylation (PubMed:17322895). Negatively regulates STAT3 signaling pathway through inhibition of STAT3 phosphorylation and translocation to the nucleus (PubMed:25476455). Functionally important modulator of cardiac myocyte size and of the cardiac response to stress (By similarity). May play a role as negative regulator of axon regeneration after central nervous system injuries (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a myo-inositol phosphate + H2O = myo-inositol + phosphate; Xref=Rhea:RHEA:24056, ChEBI:CHEBI:15377, ChEBI:CHEBI:17268, ChEBI:CHEBI:43474, ChEBI:CHEBI:84139; EC=3.1.3.25; Evidence={ECO:0000269|PubMed:25869668, ECO:0000269|PubMed:25869669};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=14.3 uM for PtdIns(4,5)P2 (at pH 6.0) {ECO:0000269|PubMed:11274189};

Enzyme Numbers (IUBMB) for INPP5F Gene

Phenotypes From GWAS Catalog for INPP5F Gene

Gene Ontology (GO) - Molecular Function for INPP5F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25476455
GO:0008934 inositol monophosphate 1-phosphatase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0034595 NOT phosphatidylinositol phosphate 5-phosphatase activity IDA 25869669
GO:0034596 phosphatidylinositol phosphate 4-phosphatase activity IDA,TAS --
genes like me logo Genes that share ontologies with INPP5F: view
genes like me logo Genes that share phenotypes with INPP5F: view

Animal Model Products

  • Taconic Biosciences Mouse Models for INPP5F

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INPP5F

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for INPP5F Gene

Localization for INPP5F Gene

Subcellular locations from UniProtKB/Swiss-Prot for INPP5F Gene

Membrane, clathrin-coated pit. Early endosome. Recycling endosome. Note=Also found on macropinosomes. {ECO:0000250 UniProtKB:Q8CDA1}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INPP5F gene
Compartment Confidence
endosome 5
cytosol 3
cytoskeleton 2
nucleus 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for INPP5F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IBA,IDA 25869669
GO:0005905 colocalizes_with clathrin-coated pit IDA 25869669
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with INPP5F: view

Pathways & Interactions for INPP5F Gene

genes like me logo Genes that share pathways with INPP5F: view

Interacting Proteins for INPP5F Gene

Gene Ontology (GO) - Biological Process for INPP5F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001921 positive regulation of receptor recycling IDA 25869669
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0008344 adult locomotory behavior IEA --
GO:0014898 cardiac muscle hypertrophy in response to stress ISS --
GO:0031161 phosphatidylinositol catabolic process ISS --
genes like me logo Genes that share ontologies with INPP5F: view

No data available for SIGNOR curated interactions for INPP5F Gene

Drugs & Compounds for INPP5F Gene

No Compound Related Data Available

Transcripts for INPP5F Gene

mRNA/cDNA for INPP5F Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INPP5F

Alternative Splicing Database (ASD) splice patterns (SP) for INPP5F Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^
SP1: - - - - -
SP2:
SP3: -
SP4:
SP5:
SP6:

ExUns: 19 ^ 20 ^ 21 ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for INPP5F Gene

GeneLoc Exon Structure for
INPP5F

Expression for INPP5F Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for INPP5F Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for INPP5F Gene

This gene is overexpressed in Brain - Hypothalamus (x5.4) and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for INPP5F Gene

This gene is overexpressed in Breast (30.2) and Fetal Brain (20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for INPP5F Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for INPP5F

SOURCE GeneReport for Unigene cluster for INPP5F Gene:

Hs.369755

mRNA Expression by UniProt/SwissProt for INPP5F Gene:

Q9Y2H2-SAC2_HUMAN
Tissue specificity: Ubiquitous (PubMed:11274189). Highly expressed in brain (PubMed:26203138).

Evidence on tissue expression from TISSUES for INPP5F Gene

  • Nervous system(4.9)
  • Skin(4.4)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with INPP5F: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for INPP5F Gene

Orthologs for INPP5F Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for INPP5F Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia INPP5F 30 31
  • 99.76 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 94 (a)
OneToMany
-- 31
  • 87 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia INPP5F 30 31
  • 92.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia INPP5F 30
  • 91.83 (n)
-- 31
  • 87 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Inpp5f 30
  • 87.09 (n)
Oppossum
(Monodelphis domestica)
Mammalia INPP5F 31
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Inpp5f 30 17 31
  • 86.93 (n)
OneToOne
Chicken
(Gallus gallus)
Aves INPP5F 30 31
  • 78.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 82 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia inpp5f 30
  • 68.86 (n)
Zebrafish
(Danio rerio)
Actinopterygii inpp5f 30 31
  • 68.85 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000483 30
  • 48.93 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7956 30 31
  • 48.53 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_W09C5.7 30
  • 48.05 (n)
W09C5.7 31
  • 32 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAC1 31
  • 28 (a)
OneToMany
Species where no ortholog for INPP5F was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for INPP5F Gene

ENSEMBL:
Gene Tree for INPP5F (if available)
TreeFam:
Gene Tree for INPP5F (if available)
Aminode:
Evolutionary constrained regions (ECRs) for INPP5F: view image

Paralogs for INPP5F Gene

Pseudogenes.org Pseudogenes for INPP5F Gene

genes like me logo Genes that share paralogs with INPP5F: view

Variants for INPP5F Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INPP5F Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs3188055 - p.Asn997Asp
rs3736822 - p.Ile453Val

Additional dbSNP identifiers (rs#s) for INPP5F Gene

Structural Variations from Database of Genomic Variants (DGV) for INPP5F Gene

Variant ID Type Subtype PubMed ID
esv1309933 CNV deletion 17803354
esv2678096 CNV deletion 23128226
esv3624715 CNV loss 21293372
nsv1045668 CNV gain 25217958
nsv1115231 CNV deletion 24896259
nsv478555 CNV novel sequence insertion 20440878
nsv825585 CNV gain 20364138

Variation tolerance for INPP5F Gene

Residual Variation Intolerance Score: 24.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.72; 66.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INPP5F Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
INPP5F

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INPP5F Gene

Disorders for INPP5F Gene

MalaCards: The human disease database

(4) MalaCards diseases for INPP5F Gene - From: DISEASES

Disorder Aliases PubMed IDs
foramen magnum meningioma
  • meningioma of the foramen magnum
parkinson disease 21
  • park21
charcot-marie-tooth disease, type 4j
  • cmt4j
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for INPP5F

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with INPP5F: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INPP5F Gene

Publications for INPP5F Gene

  1. Identification and characterization of a sac domain-containing phosphoinositide 5-phosphatase. (PMID: 11274189) Minagawa T … Takenawa T (The Journal of biological chemistry 2001) 2 3 4 23
  2. Spatiotemporal control of phosphatidylinositol 4-phosphate by Sac2 regulates endocytic recycling. (PMID: 25869669) Hsu F … Mao Y (The Journal of cell biology 2015) 2 3 4
  3. Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway. (PMID: 25869668) Nakatsu F … De Camilli P (The Journal of cell biology 2015) 3 4
  4. Inositol Polyphosphate-5-Phosphatase F (INPP5F) inhibits STAT3 activity and suppresses gliomas tumorigenicity. (PMID: 25476455) Kim HS … Zhang W (Scientific reports 2014) 3 4
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41

Products for INPP5F Gene

Sources for INPP5F Gene