Fig4
entrez
103199
canonical
uniprot
Q91WF7
canonical
ensembl
ENSMUSG00000038417
resolver
ensp
ENSMUSP00000039598
resolver
enst
ENSMUST00000043814
resolver
genesymbol
Fig4
resolver
genesymbol_syn
Kiaa0274
resolver
genesymbol_syn
Sac3
resolver
uniprot
Q6A092
resolver
uniprot_entry
FIG4_MOUSE
resolver
uniprot_sec
Q6A092
resolver
amino_acid_sequence
MPTAAAPIISSVQKLVLYETRARYFLVGSNHAETKYRVLKIDRTEPKDLVVIDDRHVYTQQEVRELLGRLDLGNRTKMSQKGSSGLFRAVSAFGVVGFVRFLEGYYIVLITKRRKMADIGGHAIYKIEDTSMIYIPNDSVRISHPDEARYLRIFQNVDLSSNFYFSYSYDLSHSLQYNLTVLRMPLEMLKSETSKACQESFDIFEDEGLITQGGSGVFGISSEPYMKYVWNGELLDIIKNTVHRDWLLYIIHGFCGQSKLLIYGRPVYVTLIARRSSRFAGTRFLKRGANCEGDVANEVETEQILCDASVMSFTAGSYSSYVQVRGSVPLFWSQDISTMMPKPPITLDQADPFAHVAALHFDQMLQRFGSPIIILNLVKEREKRKHERILSEELVAAVTYLNQFLPPEHTIVYIPWDMAKYTKSKLCNVLDRLNVIAESVVKKTGFFVNRPDSYCSILRPDEKWNELGGHVIPTGRLQTGILRTNCVDCLDRTNTAQFMVGKCALAYQLYSLGLIDKPNLQFDTDAVRLFEELYEDHGDTLSLQYGGSQLVHRVKTYRKIAPWTQHSKDIMQTLSRYYSNAFSDADRQDSINLFLGVFHPTEGKPHLWELPTDFYLHHKNTMSLLPPRRSYTYWWTPEVVKHLPLPYDEVICAANLKKLMVKKFHRWEEEIDIHNEFFRPYELSSFDDTFCLAMTSSARDFMPKTVGIDPSPFTVRKPDETGKSVLGNKNTREEAVLQRKTAASAPPPPSEEAVSSSSEDDSGTDREDEGSISQRSTPVKMTDTGDSAKATENVVQPMKEVYGVSLSSSLSEEDHSIYARFVQLGQSQHKQDRGNQQLCSRCSDGVIKLTPISAFSQDNIYEVQPPRVDRKSTEIFQAHIQASQGIMQPLGKEDTAMYREYIRNRYL
uniprot
proteins
disease_involvement
DISEASE: Note=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. {ECO:0000269|PubMed:17572665}.
uniprot
proteins
ec_number
3.1.3.-
uniprot
proteins
ec_number
3.1.3.16
uniprot
proteins
ec_number
3.1.3.36
uniprot
proteins
ec_number
3.1.3.86
uniprot
proteins
function
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. {ECO:0000269|PubMed:17572665, ECO:0000269|PubMed:19037259}.; FUNCTION: Dual specificity phosphatase component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the dephosphorylation of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) to form phosphatidylinositol 3-phosphate. Has serine-protein phosphatase activity acting on PIKfyve to stimulate its lipid kinase activity, its catalytically activity being required for maximal PI(3,5)P2 production. In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide and although displaying preferences for PtdIns(3,5)P2, it is capable of hydrolyzing PtdIns(3,4,5)P3 and PtdIns(4,5)P2, at least in vitro. {ECO:0000250|UniProtKB:Q92562, ECO:0000269|PubMed:17572665, ECO:0000269|PubMed:19037259}.
uniprot
proteins
mass_dalton
103447
uniprot
proteins
pubmed
15368895
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17572665
uniprot
proteins
pubmed
19037259
uniprot
proteins
pubmed
21183079
uniprot
proteins
sequence_length
907
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:19037259}. Note=Localization requires VAC14 and PIKFYVE. {ECO:0000269|PubMed:19037259}.
uniprot
proteins