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

    Gene ID: 9896, updated on 7-Apr-2024

    Summary

    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; AllianceGenome:HGNC:16873
    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
    BOP; 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
    NEW
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    Genomic context

    See FIG4 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (109691296..109825426)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (110869350..111003788)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (110012499..110146629)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109801913-109802414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17464 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:109811810-109812520 Neighboring gene microtubule associated monooxygenase, calponin and LIM domain containing 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:109828991-109829516 Neighboring gene ZBTB24 divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:109829517-109830042 Neighboring gene zinc finger and BTB domain containing 24 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:109834827-109835332 Neighboring gene adenylate kinase 9 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:110000392-110001073 Neighboring gene MPRA-validated peak6018 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24932 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:110176827-110177342 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:110177343-110177858 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:110203046-110204245 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:110214364-110214978 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:110265029-110265927 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:110265928-110266825 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:110299945-110300750 Neighboring gene uncharacterized LOC107986631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24933 Neighboring gene G protein-coupled receptor 6

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0274

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelin assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phosphatidylinositol-3-phosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vacuole organization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in early endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in late endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    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
    serine-protein phosphatase FIG4
    NP_055660.1
    XP_011534583.1
    XP_054212880.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_014845.6NP_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
      Q53H49, Q5TCS6, Q92562
      UniProtKB/TrEMBL
      A0A6Q8PF62
      Related
      ENSP00000230124.4, ENST00000230124.8
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      109691296..109825426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A0A6Q8PF62
      Conserved Domains (1) summary
      pfam02383
      Location:72402
      Syja_N; SacI homology domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      110869350..111003788
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356905.1XP_054212880.1  polyphosphoinositide phosphatase isoform X1