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Q91WF7 (FIG4_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Polyphosphoinositide phosphatase

EC=3.1.3.-
Alternative name(s):
Phosphatidylinositol 3,5-bisphosphate 5-phosphatase
SAC domain-containing protein 3
Gene names
Name:Fig4
Synonyms:Kiaa0274, Sac3
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length907 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.3 Ref.4

Subunit structure

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. Ref.4

Subcellular location

Endosome membrane. Note: Localization requires VAC14 and PIKFYVE. Ref.4

Tissue specificity

Wide-spread. Ref.3

Involvement in disease

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. Ref.3

Sequence similarities

Contains 1 SAC domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 907907Polyphosphoinositide phosphatase
PRO_0000209744

Regions

Domain154 – 547394SAC

Sequences

Sequence LengthMass (Da)Tools
Q91WF7 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 3C31A28BE60F2292

FASTA907103,447
        10         20         30         40         50         60 
MPTAAAPIIS SVQKLVLYET RARYFLVGSN HAETKYRVLK IDRTEPKDLV VIDDRHVYTQ 

        70         80         90        100        110        120 
QEVRELLGRL DLGNRTKMSQ KGSSGLFRAV SAFGVVGFVR FLEGYYIVLI TKRRKMADIG 

       130        140        150        160        170        180 
GHAIYKIEDT SMIYIPNDSV RISHPDEARY LRIFQNVDLS SNFYFSYSYD LSHSLQYNLT 

       190        200        210        220        230        240 
VLRMPLEMLK SETSKACQES FDIFEDEGLI TQGGSGVFGI SSEPYMKYVW NGELLDIIKN 

       250        260        270        280        290        300 
TVHRDWLLYI IHGFCGQSKL LIYGRPVYVT LIARRSSRFA GTRFLKRGAN CEGDVANEVE 

       310        320        330        340        350        360 
TEQILCDASV MSFTAGSYSS YVQVRGSVPL FWSQDISTMM PKPPITLDQA DPFAHVAALH 

       370        380        390        400        410        420 
FDQMLQRFGS PIIILNLVKE REKRKHERIL SEELVAAVTY LNQFLPPEHT IVYIPWDMAK 

       430        440        450        460        470        480 
YTKSKLCNVL DRLNVIAESV VKKTGFFVNR PDSYCSILRP DEKWNELGGH VIPTGRLQTG 

       490        500        510        520        530        540 
ILRTNCVDCL DRTNTAQFMV GKCALAYQLY SLGLIDKPNL QFDTDAVRLF EELYEDHGDT 

       550        560        570        580        590        600 
LSLQYGGSQL VHRVKTYRKI APWTQHSKDI MQTLSRYYSN AFSDADRQDS INLFLGVFHP 

       610        620        630        640        650        660 
TEGKPHLWEL PTDFYLHHKN TMSLLPPRRS YTYWWTPEVV KHLPLPYDEV ICAANLKKLM 

       670        680        690        700        710        720 
VKKFHRWEEE IDIHNEFFRP YELSSFDDTF CLAMTSSARD FMPKTVGIDP SPFTVRKPDE 

       730        740        750        760        770        780 
TGKSVLGNKN TREEAVLQRK TAASAPPPPS EEAVSSSSED DSGTDREDEG SISQRSTPVK 

       790        800        810        820        830        840 
MTDTGDSAKA TENVVQPMKE VYGVSLSSSL SEEDHSIYAR FVQLGQSQHK QDRGNQQLCS 

       850        860        870        880        890        900 
RCSDGVIKLT PISAFSQDNI YEVQPPRVDR KSTEIFQAHI QASQGIMQPL GKEDTAMYRE 


YIRNRYL 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BC015295 mRNA. Translation: AAH15295.1.
BC031887 mRNA. Translation: AAH31887.1.
AK172926 mRNA. Translation: BAD32204.1.
RefSeqNP_598760.1. NM_133999.1.
UniGeneMm.277242.

3D structure databases

ProteinModelPortalQ91WF7.
SMRQ91WF7. Positions 15-549.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING10090.ENSMUSP00000039598.

PTM databases

PhosphoSiteQ91WF7.

Proteomic databases

PaxDbQ91WF7.
PRIDEQ91WF7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000043814; ENSMUSP00000039598; ENSMUSG00000038417.
GeneID103199.
KEGGmmu:103199.
UCSCuc007exk.1. mouse.

Organism-specific databases

CTD9896.
MGIMGI:2143585. Fig4.
RougeSearch...

Phylogenomic databases

eggNOGCOG5329.
GeneTreeENSGT00550000074943.
HOGENOMHOG000168063.
InParanoidQ91WF7.
OMARDFMPKN.
OrthoDBEOG73FQM1.
PhylomeDBQ91WF7.
TreeFamTF105702.

Gene expression databases

BgeeQ91WF7.
CleanExMM_FIG4.
GenevestigatorQ91WF7.

Family and domain databases

InterProIPR002013. Syja_N.
[Graphical view]
PfamPF02383. Syja_N. 1 hit.
[Graphical view]
PROSITEPS50275. SAC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio355836.
PROQ91WF7.
SOURCESearch...

Entry information

Entry nameFIG4_MOUSE
AccessionPrimary (citable) accession number: Q91WF7
Secondary accession number(s): Q6A092
Entry history
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: December 1, 2001
Last modified: April 16, 2014
This is version 83 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot