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    FIG4 FIG4 phosphoinositide 5-phosphatase [ Homo sapiens (human) ]

    Gene ID: 9896, updated on 9-Dec-2017
    Official Symbol
    FIG4provided by HGNC
    Official Full Name
    FIG4 phosphoinositide 5-phosphataseprovided by HGNC
    Primary source
    HGNC:HGNC:16873
    See related
    Ensembl:ENSG00000112367 MIM:609390; Vega:OTTHUMG00000015352
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    YVS; BTOP; SAC3; ALS11; CMT4J; KIAA0274; dJ249I4.1
    Summary
    The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 6.2), lung (RPKM 4.8) and 25 other tissues See more
    Orthologs
    Location:
    6q21
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (109691216..109825431)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (110012424..110146634)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377935 Neighboring gene microtubule associated monooxygenase, calponin and LIM domain containing 1 Neighboring gene zinc finger and BTB domain containing 24 Neighboring gene adenylate kinase 9 Neighboring gene uncharacterized LOC107986630 Neighboring gene G protein-coupled receptor 6

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 3-phosphoinositide biosynthesis, organism-specific biosystem (from BIOCYC)
      3-phosphoinositide biosynthesis, organism-specific biosystem: Phosphoinositides "Phosphoinositides" play a key role in signal transduction, transmitting signals from the cell surface to modulate intracellular processes. One well known phosphoinositide pathway...
    • 3-phosphoinositide biosynthesis, conserved biosystem (from BIOCYC)
      3-phosphoinositide biosynthesis, conserved biosystem|FRAME: Phosphoinositides "Phosphoinositides"| play a key role in signal transduction in the eukaryotic cell, transmitting signals from the cell surface to modulate intracellular processes. One well ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • PI Metabolism, organism-specific biosystem (from REACTOME)
      PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
    • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
      Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
    • Synthesis of PIPs at the Golgi membrane, organism-specific biosystem (from REACTOME)
      Synthesis of PIPs at the Golgi membrane, organism-specific biosystemAt the Golgi membrane, phosphatidylinositol 4-phosphate (PI4P) is primarily generated from phosphorylation of phosphatidylinositol (PI). Other phosphoinositides are also generated by the action of v...
    • Synthesis of PIPs at the early endosome membrane, organism-specific biosystem (from REACTOME)
      Synthesis of PIPs at the early endosome membrane, organism-specific biosystemAt the early endosome membrane, phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) is generated in two steps from phosphatidylinositol 3,4-bisphosphate PI(3,4)P2 by the action of various kinases and p...
    • Synthesis of PIPs at the late endosome membrane, organism-specific biosystem (from REACTOME)
      Synthesis of PIPs at the late endosome membrane, organism-specific biosystemAt the late endosome membrane, the primary event is the dephosphorylation of the phosphoinositide phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) to phosphatidylinositol 3-phosphate (PI3P) and phos...
    • superpathway of inositol phosphate compounds, organism-specific biosystem (from BIOCYC)
      superpathway of inositol phosphate compounds, organism-specific biosystem
      superpathway of inositol phosphate compounds
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0274

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol-3-phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol-4-phosphate phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    myelin assembly IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol-3-phosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    vacuole organization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    early endosome membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    late endosome membrane TAS
    Traceable Author Statement
    more info
     
    lipid droplet IDA
    Inferred from Direct Assay
    more info
     
    recycling endosome IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    polyphosphoinositide phosphatase
    Names
    FIG4 homolog, SAC domain containing lipid phosphatase
    FIG4 homolog, SAC1 domain containing lipid phosphatase
    FIG4 homolog, SAC1 lipid phosphatase domain containing
    SAC domain-containing protein 3
    Sac domain-containing inositol phosphatase 3
    phosphatidylinositol 3,5-bisphosphate 5-phosphatase

    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.

    Genomic

    1. NG_007977.1 RefSeqGene

      Range
      5001..139211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_241

    mRNA and Protein(s)

    1. NM_014845.5NP_055660.1  polyphosphoinositide phosphatase

      See identical proteins and their annotated locations for NP_055660.1

      Status: REVIEWED

      Source sequence(s)
      AK222732, BC041338, BU683891, DA811740
      Consensus CDS
      CCDS5078.1
      UniProtKB/Swiss-Prot
      Q92562
      Related
      ENSP00000230124.3, OTTHUMP00000016976, ENST00000230124.7, OTTHUMT00000041768
      Conserved Domains (2) summary
      COG5329
      Location:14636
      COG5329; Phosphoinositide polyphosphatase (Sac family) [Signal transduction mechanisms]
      pfam02383
      Location:93423
      Syja_N; SacI homology domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      109691216..109825431
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011591.1XP_016867080.1  polyphosphoinositide phosphatase isoform X2

    2. XM_017011593.1XP_016867082.1  polyphosphoinositide phosphatase isoform X4

    3. XM_017011592.1XP_016867081.1  polyphosphoinositide phosphatase isoform X3

    4. XM_011536281.2XP_011534583.1  polyphosphoinositide phosphatase isoform X1

      Conserved Domains (1) summary
      pfam02383
      Location:72402
      Syja_N; SacI homology domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      110275404..110409874
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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