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    Fig4 FIG4 phosphoinositide 5-phosphatase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 309855, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Fig4provided by RGD
    Official Full Name
    FIG4 phosphoinositide 5-phosphataseprovided by RGD
    Primary source
    RGD:1311375
    See related
    EnsemblRapid:ENSRNOG00000000312 AllianceGenome:RGD:1311375
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Sac3; Kiaa0274; RGD1311375
    Summary
    Enables phosphatidylinositol bisphosphate phosphatase activity; phosphatidylinositol-3-phosphate phosphatase activity; and phosphatidylinositol-4-phosphate phosphatase activity. Involved in positive regulation of neuron projection development. Located in recycling endosome. 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, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 63.9), Brain (RPKM 62.1) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Fig4 in Genome Data Viewer
    Location:
    20q12
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 20 NC_086038.1 (46183225..46306686, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 20 NC_051355.1 (44600603..44724047, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 20 NC_005119.4 (45922806..46044754, complement)

    Chromosome 20 - NC_086038.1Genomic Context describing neighboring genes Neighboring gene WASP family member 1 Neighboring gene G protein-coupled receptor 6 Neighboring gene small nucleolar RNA SNORA17 Neighboring gene U6 spliceosomal RNA Neighboring gene UTP15, small subunit processome component Neighboring gene adenylate kinase 9 Neighboring gene uncharacterized LOC120098942

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. rSac3, a novel Sac domain phosphoinositide phosphatase, promotes neurite outgrowth in PC12 cells. Yuan Y, et al. Cell Res, 2007 Nov. PMID 17909536
    2. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Chow CY, et al. Nature, 2007 Jul 5. PMID 17572665, Free PMC Article
    3. Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. Vaccari I, et al. PLoS Genet, 2011 Oct. PMID 22028665, Free PMC Article
    4. Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex. Sbrissa D, et al. J Biol Chem, 2007 Aug 17. PMID 17556371
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables phosphatidylinositol bisphosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3-phosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-4-phosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within locomotory behavior ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within myelin assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of myelination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of myelination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuron development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within phosphatidylinositol metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in phosphatidylinositol-3-phosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within pigmentation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within vacuole organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in endosome membrane ISO
    Inferred from Sequence Orthology
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    polyphosphoinositide phosphatase
    Names
    Sac domain-containing inositol phosphatase 3
    NP_001040561.1
    XP_006256602.1
    XP_006256603.1
    XP_038954694.1
    XP_038954695.1

    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_001047096.1 → NP_001040561.1  polyphosphoinositide phosphatase

      See identical proteins and their annotated locations for NP_001040561.1

      Status: PROVISIONAL

      Source sequence(s)
      DQ666853
      UniProtKB/TrEMBL
      A0A8I6ADY9, A6KTC8, F7ESC7, Q0Z843
      Related
      ENSRNOP00000000343.2, ENSRNOT00000000343.6
      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

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086038.1 Reference GRCr8

      Range
      46183225..46306686 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006256541.5 → XP_006256603.1  polyphosphoinositide phosphatase isoform X1

      See identical proteins and their annotated locations for XP_006256603.1

      UniProtKB/TrEMBL
      A0A8I6ADY9, A6KTC9
      Conserved Domains (1) summary
      pfam02383
      Location:6 → 308
      Syja_N; SacI homology domain

    2. XM_006256540.4 → XP_006256602.1  polyphosphoinositide phosphatase isoform X1

      See identical proteins and their annotated locations for XP_006256602.1

      UniProtKB/TrEMBL
      A0A8I6ADY9, A6KTC9
      Conserved Domains (1) summary
      pfam02383
      Location:6 → 308
      Syja_N; SacI homology domain

    3. XM_039098766.2 → XP_038954694.1  polyphosphoinositide phosphatase isoform X1

      UniProtKB/TrEMBL
      A0A8I6ADY9, A6KTC9
      Conserved Domains (1) summary
      pfam02383
      Location:6 → 308
      Syja_N; SacI homology domain

    4. XM_039098767.2 → XP_038954695.1  polyphosphoinositide phosphatase isoform X2

      Conserved Domains (1) summary
      pfam02383
      Location:93 → 423
      Syja_N; SacI homology domain
    Nucleotide Protein Strain
    Heading Accession and Version

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