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Q91WF7

- FIG4_MOUSE

UniProt

Q91WF7 - FIG4_MOUSE

Protein

Polyphosphoinositide phosphatase

Gene

Fig4

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.2 Publications

    GO - Molecular functioni

    1. phosphatidylinositol-3-phosphatase activity Source: Ensembl
    2. phosphatidylinositol-4-phosphate phosphatase activity Source: Ensembl
    3. phosphatidylinositol bisphosphate phosphatase activity Source: Ensembl

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. locomotory behavior Source: MGI
    3. myelin assembly Source: MGI
    4. negative regulation of myelination Source: MGI
    5. neuron development Source: MGI
    6. phosphatidylinositol metabolic process Source: MGI
    7. pigmentation Source: MGI
    8. positive regulation of neuron projection development Source: Ensembl
    9. vacuole organization Source: MGI

    Keywords - Molecular functioni

    Hydrolase

    Enzyme and pathway databases

    ReactomeiREACT_198970. Synthesis of PIPs at the Golgi membrane.
    REACT_198972. Synthesis of PIPs at the late endosome membrane.
    REACT_198975. Synthesis of PIPs at the early endosome membrane.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Polyphosphoinositide phosphatase (EC:3.1.3.-)
    Alternative name(s):
    Phosphatidylinositol 3,5-bisphosphate 5-phosphatase
    SAC domain-containing protein 3
    Gene namesi
    Name:Fig4
    Synonyms:Kiaa0274, Sac3
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 10

    Organism-specific databases

    MGIiMGI:2143585. Fig4.

    Subcellular locationi

    Endosome membrane 1 Publication
    Note: Localization requires VAC14 and PIKFYVE.

    GO - Cellular componenti

    1. endosome membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Endosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Fig4 are the cause of the pale tremor phenotype which is a multi-organ disorder with neuronal degeneration in the central nervous system, peripheral neuronopathy and diluted pigmentation. At postnatal day three (P3), affected homozygotes have diluted pigmentation and reduced size. Intentional tremor develops during the second week after birth, and abnormal limb postures are evident by the third week. There is impaired motor coordination, muscle weakness and "swimming" gait. There is progressive loss of mobility, reduction in body weight and juvenile lethality.1 Publication

    Keywords - Diseasei

    Neurodegeneration, Neuropathy

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 907907Polyphosphoinositide phosphatasePRO_0000209744Add
    BLAST

    Proteomic databases

    PaxDbiQ91WF7.
    PRIDEiQ91WF7.

    PTM databases

    PhosphoSiteiQ91WF7.

    Expressioni

    Tissue specificityi

    Wide-spread.1 Publication

    Gene expression databases

    BgeeiQ91WF7.
    CleanExiMM_FIG4.
    GenevestigatoriQ91WF7.

    Interactioni

    Subunit structurei

    Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and WIPI1. VAC14 nucleates the assembly of the complex and serves as a scaffold.1 Publication

    Protein-protein interaction databases

    STRINGi10090.ENSMUSP00000039598.

    Structurei

    3D structure databases

    ProteinModelPortaliQ91WF7.
    SMRiQ91WF7. Positions 15-549.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini154 – 547394SACPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 SAC domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG5329.
    GeneTreeiENSGT00550000074943.
    HOGENOMiHOG000168063.
    InParanoidiQ91WF7.
    OMAiRDFMPKN.
    OrthoDBiEOG73FQM1.
    PhylomeDBiQ91WF7.
    TreeFamiTF105702.

    Family and domain databases

    InterProiIPR002013. Syja_N.
    [Graphical view]
    PfamiPF02383. Syja_N. 1 hit.
    [Graphical view]
    PROSITEiPS50275. SAC. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q91WF7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPTAAAPIIS SVQKLVLYET RARYFLVGSN HAETKYRVLK IDRTEPKDLV    50
    VIDDRHVYTQ QEVRELLGRL DLGNRTKMSQ KGSSGLFRAV SAFGVVGFVR 100
    FLEGYYIVLI TKRRKMADIG GHAIYKIEDT SMIYIPNDSV RISHPDEARY 150
    LRIFQNVDLS SNFYFSYSYD LSHSLQYNLT VLRMPLEMLK SETSKACQES 200
    FDIFEDEGLI TQGGSGVFGI SSEPYMKYVW NGELLDIIKN TVHRDWLLYI 250
    IHGFCGQSKL LIYGRPVYVT LIARRSSRFA GTRFLKRGAN CEGDVANEVE 300
    TEQILCDASV MSFTAGSYSS YVQVRGSVPL FWSQDISTMM PKPPITLDQA 350
    DPFAHVAALH FDQMLQRFGS PIIILNLVKE REKRKHERIL SEELVAAVTY 400
    LNQFLPPEHT IVYIPWDMAK YTKSKLCNVL DRLNVIAESV VKKTGFFVNR 450
    PDSYCSILRP DEKWNELGGH VIPTGRLQTG ILRTNCVDCL DRTNTAQFMV 500
    GKCALAYQLY SLGLIDKPNL QFDTDAVRLF EELYEDHGDT LSLQYGGSQL 550
    VHRVKTYRKI APWTQHSKDI MQTLSRYYSN AFSDADRQDS INLFLGVFHP 600
    TEGKPHLWEL PTDFYLHHKN TMSLLPPRRS YTYWWTPEVV KHLPLPYDEV 650
    ICAANLKKLM VKKFHRWEEE IDIHNEFFRP YELSSFDDTF CLAMTSSARD 700
    FMPKTVGIDP SPFTVRKPDE TGKSVLGNKN TREEAVLQRK TAASAPPPPS 750
    EEAVSSSSED DSGTDREDEG SISQRSTPVK MTDTGDSAKA TENVVQPMKE 800
    VYGVSLSSSL SEEDHSIYAR FVQLGQSQHK QDRGNQQLCS RCSDGVIKLT 850
    PISAFSQDNI YEVQPPRVDR KSTEIFQAHI QASQGIMQPL GKEDTAMYRE 900
    YIRNRYL 907
    Length:907
    Mass (Da):103,447
    Last modified:December 1, 2001 - v1
    Checksum:i3C31A28BE60F2292
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC015295 mRNA. Translation: AAH15295.1.
    BC031887 mRNA. Translation: AAH31887.1.
    AK172926 mRNA. Translation: BAD32204.1.
    CCDSiCCDS23803.1.
    RefSeqiNP_598760.1. NM_133999.1.
    UniGeneiMm.277242.

    Genome annotation databases

    EnsembliENSMUST00000043814; ENSMUSP00000039598; ENSMUSG00000038417.
    GeneIDi103199.
    KEGGimmu:103199.
    UCSCiuc007exk.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC015295 mRNA. Translation: AAH15295.1 .
    BC031887 mRNA. Translation: AAH31887.1 .
    AK172926 mRNA. Translation: BAD32204.1 .
    CCDSi CCDS23803.1.
    RefSeqi NP_598760.1. NM_133999.1.
    UniGenei Mm.277242.

    3D structure databases

    ProteinModelPortali Q91WF7.
    SMRi Q91WF7. Positions 15-549.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 10090.ENSMUSP00000039598.

    PTM databases

    PhosphoSitei Q91WF7.

    Proteomic databases

    PaxDbi Q91WF7.
    PRIDEi Q91WF7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000043814 ; ENSMUSP00000039598 ; ENSMUSG00000038417 .
    GeneIDi 103199.
    KEGGi mmu:103199.
    UCSCi uc007exk.1. mouse.

    Organism-specific databases

    CTDi 9896.
    MGIi MGI:2143585. Fig4.
    Rougei Search...

    Phylogenomic databases

    eggNOGi COG5329.
    GeneTreei ENSGT00550000074943.
    HOGENOMi HOG000168063.
    InParanoidi Q91WF7.
    OMAi RDFMPKN.
    OrthoDBi EOG73FQM1.
    PhylomeDBi Q91WF7.
    TreeFami TF105702.

    Enzyme and pathway databases

    Reactomei REACT_198970. Synthesis of PIPs at the Golgi membrane.
    REACT_198972. Synthesis of PIPs at the late endosome membrane.
    REACT_198975. Synthesis of PIPs at the early endosome membrane.

    Miscellaneous databases

    NextBioi 355836.
    PROi Q91WF7.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q91WF7.
    CleanExi MM_FIG4.
    Genevestigatori Q91WF7.

    Family and domain databases

    InterProi IPR002013. Syja_N.
    [Graphical view ]
    Pfami PF02383. Syja_N. 1 hit.
    [Graphical view ]
    PROSITEi PS50275. SAC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6 and FVB/N.
      Tissue: Kidney and Retina.
    2. "Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
      Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S., Saga Y., Seino S., Nishimura M., Kaisho T., Hoshino K., Kitamura H., Nagase T., Ohara O., Koga H.
      DNA Res. 11:205-218(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 256-907.
      Tissue: Natural killer cell.
    3. "Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J."
      Chow C.Y., Zhang Y., Dowling J.J., Jin N., Adamska M., Shiga K., Szigeti K., Shy M.E., Li J., Zhang X., Lupski J.R., Weisman L.S., Meisler M.H.
      Nature 448:68-72(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, DISEASE.
    4. "VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse."
      Jin N., Chow C.Y., Liu L., Zolov S.N., Bronson R., Davisson M., Petersen J.L., Zhang Y., Park S., Duex J.E., Goldowitz D., Meisler M.H., Weisman L.S.
      EMBO J. 27:3221-3234(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE PI(3,5)P2 REGULATORY COMPLEX, FUNCTION, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiFIG4_MOUSE
    AccessioniPrimary (citable) accession number: Q91WF7
    Secondary accession number(s): Q6A092
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2005
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 86 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3