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Q91WF7

- FIG4_MOUSE

UniProt

Q91WF7 - FIG4_MOUSE

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Protein
Polyphosphoinositide phosphatase
Gene
Fig4, Kiaa0274, Sac3
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 bisphosphate phosphatase activity Source: Ensembl
  2. phosphatidylinositol-3-phosphatase activity Source: Ensembl
  3. phosphatidylinositol-4-phosphate 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
Complete GO annotation...

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
Note: Localization requires VAC14 and PIKFYVE.1 Publication

GO - Cellular componenti

  1. endosome membrane Source: UniProtKB-SubCell
Complete GO annotation...

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 phosphatase
PRO_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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini154 – 547394SAC
Add
BLAST

Sequence similaritiesi

Contains 1 SAC domain.

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 85 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

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