Polyphosphoinositide phosphatase - Mus musculus (Mouse)

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Q91WF7 (FIG4_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 3, 2013. Version 77. History...

Clusters with 100%, 90%, 50% identity |

Documents (2) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended 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

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	907 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Endosome Membrane
Disease	Neurodegeneration Neuropathy
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell death Inferred from electronic annotation. Source: UniProtKB-KW locomotory behavior Inferred from mutant phenotype Ref.3. Source: MGI myelin assembly Inferred from genetic interaction PubMed 22028665. Source: MGI negative regulation of myelination Inferred from mutant phenotype PubMed 22028665. Source: MGI neuron development Inferred from mutant phenotype Ref.3 PubMed 22028665. Source: MGI phosphatidylinositol metabolic process Inferred from mutant phenotype Ref.3 PubMed 22028665. Source: MGI pigmentation Inferred from mutant phenotype Ref.3 PubMed 22028665. Source: MGI positive regulation of neuron projection development Inferred from electronic annotation. Source: Compara vacuole organization Inferred from mutant phenotype Ref.3. Source: MGI
Cellular_component	endosome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	phosphatidylinositol bisphosphate phosphatase activity Inferred from electronic annotation. Source: Compara phosphatidylinositol-3-phosphatase activity Inferred from electronic annotation. Source: Compara phosphatidylinositol-4-phosphate phosphatase activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 907

907

Polyphosphoinositide phosphatase

PRO_0000209744

Regions

Domain

154 – 547

394

SAC

Sequences

Sequence

Length

Mass (Da)

Tools

Q91WF7 [UniParc].

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

907

103,447

        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' referencesShow '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.
IPI	IPI00128101.
RefSeq	NP_598760.1. NM_133999.1.
UniGene	Mm.277242.
3D structure databases
ProteinModelPortal	Q91WF7.
SMR	Q91WF7. Positions 15-549.
ModBase	Search...
Protein-protein interaction databases
STRING	10090.ENSMUSP00000039598.
PTM databases
PhosphoSite	Q91WF7.
Proteomic databases
PaxDb	Q91WF7.
PRIDE	Q91WF7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000043814; ENSMUSP00000039598; ENSMUSG00000038417.
GeneID	103199.
KEGG	mmu:103199.
UCSC	uc007exk.1. mouse.
Organism-specific databases
CTD	9896.
MGI	MGI:2143585. Fig4.
Rouge	Search...
Phylogenomic databases
eggNOG	COG5329.
GeneTree	ENSGT00550000074943.
HOGENOM	HOG000168063.
InParanoid	Q91WF7.
OMA	LGGCVIP.
OrthoDB	EOG48SGSD.
Gene expression databases
Bgee	Q91WF7.
CleanEx	MM_FIG4.
Genevestigator	Q91WF7.
GermOnline	ENSMUSG00000038417. Mus musculus.
Family and domain databases
InterPro	IPR002013. Syja_N. [Graphical view]
Pfam	PF02383. Syja_N. 1 hit. [Graphical view]
PROSITE	PS50275. SAC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	355836.
SOURCE	Search...

Entry information

Entry name

FIG4_MOUSE

Accession

Primary (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 3, 2013
This is version 77 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Relevant documents

MGD cross-references

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

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents