ID  Q86WG5;
PN  Myotubularin-related protein 13;
GN  SBF2;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm {ECO:0000269|PubMed:15998640}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:E9PXF8}. Membrane {ECO:0000269|PubMed:15998640}; Peripheral membrane protein {ECO:0000269|PubMed:15998640}. Endosome membrane {ECO:0000250|UniProtKB:E9PXF8}; Peripheral membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:E9PXF8}. Note=Associated with membranes (PubMed:15998640). Localizes to vacuoles in hypo-osmotic conditions (By similarity). Membrane localization is likely to be mediated via its interaction with MTMR2 (By similarity). {ECO:0000250|UniProtKB:E9PXF8, ECO:0000269|PubMed:15998640}.
DR  UNIPROT: Q86WG5;
DR  UNIPROT: Q3MJF0;
DR  UNIPROT: Q68DQ3;
DR  UNIPROT: Q6P459;
DR  UNIPROT: Q6PJD1;
DR  UNIPROT: Q7Z325;
DR  UNIPROT: Q7Z621;
DR  UNIPROT: Q86VE2;
DR  UNIPROT: Q96FE2;
DR  UNIPROT: Q9C097;
DR  Pfam: PF02141;
DR  Pfam: PF02893;
DR  Pfam: PF06602;
DR  Pfam: PF00169;
DR  Pfam: PF12335;
DR  Pfam: PF03456;
DR  PROSITE: PS50211;
DR  PROSITE: PS50003;
DR  PROSITE: PS51339;
DR  OMIM: 604563;
DR  OMIM: 607697;
DR  DisGeNET: 81846;
DE  Function: Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 (PubMed:20937701, PubMed:25648148). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701, PubMed:25648148). In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148). Acts as an adapter for the phosphatase MTMR2 (By similarity). Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate (By similarity). {ECO:0000250|UniProtKB:E9PXF8, ECO:0000269|PubMed:20937701, ECO:0000269|PubMed:25648148}.
DE  Disease: Charcot-Marie-Tooth disease 4B2 (CMT4B2) [MIM:604563]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie- Tooth disease are designated CMT4. {ECO:0000269|PubMed:12554688, ECO:0000269|PubMed:12687498, ECO:0000269|PubMed:15304601, ECO:0000269|PubMed:15477569}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: O95248; IntAct: EBI-27115195; Score: 0.42
DE  Interaction: Q13614; IntAct: EBI-27113582; Score: 0.42
DE  Interaction: P01100; IntAct: EBI-2683286; Score: 0.00
DE  Interaction: Q93062; IntAct: EBI-10260028; Score: 0.56
DE  Interaction: Q9Z2D1; IntAct: EBI-11064455; Score: 0.35
DE  Interaction: Q14103; IntAct: EBI-11152836; Score: 0.35
DE  Interaction: O60506; IntAct: EBI-11153302; Score: 0.35
DE  Interaction: P46379; IntAct: EBI-11154173; Score: 0.35
DE  Interaction: Q99523; IntAct: EBI-11154667; Score: 0.35
DE  Interaction: Q6P5F9; IntAct: EBI-11603310; Score: 0.35
DE  Interaction: Q13643; IntAct: EBI-24546915; Score: 0.56
DE  Interaction: Q00839; IntAct: EBI-20923842; Score: 0.40
DE  Interaction: Q9NRI5; IntAct: EBI-21389904; Score: 0.00
DE  Interaction: Q13613; IntAct: EBI-27115195; Score: 0.42
DE  Interaction: Q9H773; IntAct: EBI-27116778; Score: 0.27
DE  Interaction: O95881; IntAct: EBI-27116778; Score: 0.27
DE  Interaction: O75439; IntAct: EBI-27116778; Score: 0.27
DE  Interaction: P54819; IntAct: EBI-27116778; Score: 0.27
DE  Interaction: P11413; IntAct: EBI-27116778; Score: 0.27
DE  Interaction: Q9C0B1; IntAct: EBI-27116778; Score: 0.27
DE  Interaction: P22314; IntAct: EBI-27116778; Score: 0.27
DE  Interaction: Q9UL15; IntAct: EBI-27116778; Score: 0.27
DE  Interaction: Q9P0M6; IntAct: EBI-27116778; Score: 0.27
GO  GO:0030424;
GO  GO:0005829;
GO  GO:0010008;
GO  GO:0016020;
GO  GO:0048471;
GO  GO:0005774;
GO  GO:0005085;
GO  GO:0042802;
GO  GO:0019902;
GO  GO:0019208;
GO  GO:0035091;
GO  GO:0006914;
GO  GO:0042552;
GO  GO:0043087;
TP  Membrane Topology: Peripheral; Source: UniProt - Curator Inference {ECO:0000305};
SQ  MARLADYFIVVGYDHEKPGSGEGLGKIIQRFPQKDWDDTPFPQGIELFCQPGGWQLSRERKQPTFFVVVLTDIDSDRHYC
SQ  SCLTFYEAEINLQGTKKEEIEGEAKVSGLIQPAEVFAPKSLVLVSRLYYPEIFRACLGLIYTVYVDSLNVSLESLIANLC
SQ  ACLVPAAGGSQKLFSLGAGDRQLIQTPLHDSLPITGTSVALLFQQLGIQNVLSLFCAVLTENKVLFHSASFQRLSDACRA
SQ  LESLMFPLKYSYPYIPILPAQLLEVLSSPTPFIIGVHSVFKTDVHELLDVIIADLDGGTIKIPECIHLSSLPEPLLHQTQ
SQ  SALSLILHPDLEVADHAFPPPRTALSHSKMLDKEVRAVFLRLFAQLFQGYRSCLQLIRIHAEPVIHFHKTAFLGQRGLVE
SQ  NDFLTKVLSGMAFAGFVSERGPPYRSCDLFDELVAFEVERIKVEENNPVKMIKHVRELAEQLFKNENPNPHMAFQKVPRP
SQ  TEGSHLRVHILPFPEINEARVQELIQENVAKNQNAPPATRIEKKCVVPAGPPVVSIMDKVTTVFNSAQRLEVVRNCISFI
SQ  FENKILETEKTLPAALRALKGKAARQCLTDELGLHVQQNRAILDHQQFDYIIRMMNCTLQDCSSLEEYNIAAALLPLTSA
SQ  FYRKLAPGVSQFAYTCVQDHPIWTNQQFWETTFYNAVQEQVRSLYLSAKEDNHAPHLKQKDKLPDDHYQEKTAMDLAAEQ
SQ  LRLWPTLSKSTQQELVQHEESTVFSQAIHFANLMVNLLVPLDTSKNKLLRTSAPGDWESGSNSIVTNSIAGSVAESYDTE
SQ  SGFEDSENTDIANSVVRFITRFIDKVCTESGVTQDHIKSLHCMIPGIVAMHIETLEAVHRESRRLPPIQKPKILRPALLP
SQ  GEEIVCEGLRVLLDPDGREEATGGLLGGPQLLPAEGALFLTTYRILFRGTPHDQLVGEQTVVRSFPIASITKEKKITMQN
SQ  QLQQNMQEGLQITSASFQLIKVAFDEEVSPEVVEIFKKQLMKFRYPQSIFSTFAFAAGQTTPQIILPKQKEKNTSFRTFS
SQ  KTIVKGAKRAGKMTIGRQYLLKKKTGTIVEERVNRPGWNEDDDVSVSDESELPTSTTLKASEKSTMEQLVEKACFRDYQR
SQ  LGLGTISGSSSRSRPEYFRITASNRMYSLCRSYPGLLVVPQAVQDSSLPRVARCYRHNRLPVVCWKNSRSGTLLLRSGGF
SQ  HGKGVVGLFKSQNSPQAAPTSSLESSSSIEQEKYLQALLNAVSVHQKLRGNSTLTVRPAFALSPGVWASLRSSTRLISSP
SQ  TSFIDVGARLAGKDHSASFSNSSYLQNQLLKRQAALYIFGEKSQLRNFKVEFALNCEFVPVEFHEIRQVKASFKKLMRAC
SQ  IPSTIPTDSEVTFLKALGDSEWFPQLHRIMQLAVVVSEVLENGSSVLVCLEEGWDITAQVTSLVQLLSDPFYRTLEGFQM
SQ  LVEKEWLSFGHKFSQRSSLTLNCQGSGFAPVFLQFLDCVHQVHNQYPTEFEFNLYYLKFLAFHYVSNRFKTFLLDSDYER
SQ  LEHGTLFDDKGEKHAKKGVCIWECIDRMHKRSPIFFNYLYSPLEIEALKPNVNVSSLKKWDYYIEETLSTGPSYDWMMLT
SQ  PKHFPSEDSDLAGEAGPRSQRRTVWPCYDDVSCTQPDALTSLFSEIEKLEHKLNQAPEKWQQLWERVTVDLKEEPRTDRS
SQ  QRHLSRSPGIVSTNLPSYQKRSLLHLPDSSMGEEQNSSISPSNGVERRAATLYSQYTSKNDENRSFEGTLYKRGALLKGW
SQ  KPRWFVLDVTKHQLRYYDSGEDTSCKGHIDLAEVEMVIPAGPSMGAPKHTSDKAFFDLKTSKRVYNFCAQDGQSAQQWMD
SQ  KIQSCISDA
//