ID  O95248;
PN  Myotubularin-related protein 5;
GN  SBF1;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm {ECO:0000269|PubMed:12668758, ECO:0000269|PubMed:20937701}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:12668758}.
DR  UNIPROT: O95248;
DR  UNIPROT: A0A024R4Z9;
DR  UNIPROT: A6PVG9;
DR  UNIPROT: G5E933;
DR  UNIPROT: O60228;
DR  UNIPROT: Q5JXD8;
DR  UNIPROT: Q5PPM2;
DR  UNIPROT: Q96GR9;
DR  UNIPROT: Q9UGB8;
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: 603560;
DR  OMIM: 615284;
DR  DisGeNET: 6305;
DE  Function: Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location (PubMed:12668758). May function as a guanine nucleotide exchange factor (GEF) activating RAB28 (PubMed:20937701). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701). Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts (PubMed:9537414). {ECO:0000269|PubMed:12668758, ECO:0000269|PubMed:20937701, ECO:0000269|PubMed:9537414}.
DE  Disease: Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284]: 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:23749797}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: Q9NTG7; IntAct: EBI-2322825; Score: 0.40
DE  Interaction: A0A380PK27; IntAct: EBI-2864071; Score: 0.00
DE  Interaction: O15530; IntAct: EBI-7283018; Score: 0.37
DE  Interaction: O14788; IntAct: EBI-7404516; Score: 0.37
DE  Interaction: P04792; IntAct: EBI-6873254; Score: 0.37
DE  Interaction: Q9WMX2; IntAct: EBI-9079822; Score: 0.37
DE  Interaction: Q9Z2D1; IntAct: EBI-11064455; Score: 0.35
DE  Interaction: Q9H8J5; IntAct: EBI-21537025; Score: 0.35
DE  Interaction: O60232; IntAct: EBI-21543889; Score: 0.35
DE  Interaction: Q8TDQ0; IntAct: EBI-21556046; Score: 0.35
DE  Interaction: P52799; IntAct: EBI-21582984; Score: 0.35
DE  Interaction: Q86WV1; IntAct: EBI-21601309; Score: 0.35
DE  Interaction: Q9BRK4; IntAct: EBI-21601734; Score: 0.35
DE  Interaction: P48426; IntAct: EBI-21630443; Score: 0.35
DE  Interaction: Q9HCJ2; IntAct: EBI-21642856; Score: 0.35
DE  Interaction: P33151; IntAct: EBI-21650356; Score: 0.35
DE  Interaction: P37173; IntAct: EBI-21668347; Score: 0.35
DE  Interaction: Q9NXC2; IntAct: EBI-21737700; Score: 0.35
DE  Interaction: Q5T8I9; IntAct: EBI-21755295; Score: 0.35
DE  Interaction: Q6ZWK4; IntAct: EBI-21782601; Score: 0.35
DE  Interaction: P16581; IntAct: EBI-21812353; Score: 0.35
DE  Interaction: Q9NRW1; IntAct: EBI-21812395; Score: 0.35
DE  Interaction: P11279; IntAct: EBI-16794808; Score: 0.27
DE  Interaction: Q6ZMQ8; IntAct: EBI-20980276; Score: 0.37
DE  Interaction: P03372; IntAct: EBI-21302175; Score: 0.35
DE  Interaction: P0DOF2; IntAct: EBI-25603126; Score: 0.35
DE  Interaction: A0A0H3NF08; IntAct: EBI-27055973; Score: 0.27
DE  Interaction: Q8TDX7; IntAct: EBI-28943744; Score: 0.35
DE  Interaction: Q13614; IntAct: EBI-27113582; Score: 0.35
DE  Interaction: Q13613; IntAct: EBI-27115175; Score: 0.35
DE  Interaction: Q9H6Y2; IntAct: EBI-27115175; Score: 0.35
DE  Interaction: Q9Y5B9; IntAct: EBI-27115175; Score: 0.35
DE  Interaction: Q9H6T3; IntAct: EBI-27115175; Score: 0.35
DE  Interaction: P17252; IntAct: EBI-27115175; Score: 0.35
DE  Interaction: P08123; IntAct: EBI-27115175; Score: 0.35
DE  Interaction: Q86WG5; IntAct: EBI-27115195; Score: 0.42
DE  Interaction: P11362; IntAct: EBI-32721578; Score: 0.27
GO  GO:0005737;
GO  GO:0005829;
GO  GO:0005789;
GO  GO:0016021;
GO  GO:0016604;
GO  GO:0048471;
GO  GO:0005085;
GO  GO:0019208;
GO  GO:0008138;
GO  GO:0006470;
GO  GO:0043087;
GO  GO:0007286;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MARLADYFVLVAFGPHPRGSGEGQGQILQRFPEKDWEDNPFPQGIELFCQPSGWQLCPERNPPTFFVAVLTDINSERHYC
SQ  ACLTFWEPAEPSQQETTRVEDATEREEEGDEGGQTHLSPTAPAPSAQLFAPKTLVLVSRLDHTEVFRNSLGLIYAIHVEG
SQ  LNVCLENVIGNLLTCTVPLAGGSQRTISLGAGDRQVIQTPLADSLPVSRCSVALLFRQLGITNVLSLFCAALTEHKVLFL
SQ  SRSYQRLADACRGLLALLFPLRYSFTYVPILPAQLLEVLSTPTPFIIGVNAAFQAETQELLDVIVADLDGGTVTIPECVH
SQ  IPPLPEPLQSQTHSVLSMVLDPELELADLAFPPPTTSTSSLKMQDKELRAVFLRLFAQLLQGYRWCLHVVRIHPEPVIRF
SQ  HKAAFLGQRGLVEDDFLMKVLEGMAFAGFVSERGVPYRPTDLFDELVAHEVARMRADENHPQRVLRHVQELAEQLYKNEN
SQ  PYPAVAMHKVQRPGESSHLRRVPRPFPRLDEGTVQWIVDQAAAKMQGAPPAVKAERRTTVPSGPPMTAILERCSGLHVNS
SQ  ARRLEVVRNCISYVFEGKMLEAKKLLPAVLRALKGRAARRCLAQELHLHVQQNRAVLDHQQFDFVVRMMNCCLQDCTSLD
SQ  EHGIAAALLPLVTAFCRKLSPGVTQFAYSCVQEHVVWSTPQFWEAMFYGDVQTHIRALYLEPTEDLAPAQEVGEAPSQED
SQ  ERSALDVASEQRRLWPTLSREKQQELVQKEESTVFSQAIHYANRMSYLLLPLDSSKSRLLRERAGLGDLESASNSLVTNS
SQ  MAGSVAESYDTESGFEDAETCDVAGAVVRFINRFVDKVCTESGVTSDHLKGLHVMVPDIVQMHIETLEAVQRESRRLPPI
SQ  QKPKLLRPRLLPGEECVLDGLRVYLLPDGREEGAGGSAGGPALLPAEGAVFLTTYRVIFTGMPTDPLVGEQVVVRSFPVA
SQ  ALTKEKRISVQTPVDQLLQDGLQLRSCTFQLLKMAFDEEVGSDSAELFRKQLHKLRYPPDIRATFAFTLGSAHTPGRPPR
SQ  VTKDKGPSLRTLSRNLVKNAKKTIGRQHVTRKKYNPPSWEHRGQPPPEDQEDEISVSEELEPSTLTPSSALKPSDRMTMS
SQ  SLVERACCRDYQRLGLGTLSSSLSRAKSEPFRISPVNRMYAICRSYPGLLIVPQSVQDNALQRVSRCYRQNRFPVVCWRS
SQ  GRSKAVLLRSGGLHGKGVVGLFKAQNAPSPGQSQADSSSLEQEKYLQAVVSSMPRYADASGRNTLSGFSSAHMGSHGKWG
SQ  SVRTSGRSSGLGTDVGSRLAGRDALAPPQANGGPPDPGFLRPQRAALYILGDKAQLKGVRSDPLQQWELVPIEVFEARQV
SQ  KASFKKLLKACVPGCPAAEPSPASFLRSLEDSEWLIQIHKLLQVSVLVVELLDSGSSVLVGLEDGWDITTQVVSLVQLLS
SQ  DPFYRTLEGFRLLVEKEWLSFGHRFSHRGAHTLAGQSSGFTPVFLQFLDCVHQVHLQFPMEFEFSQFYLKFLGYHHVSRR
SQ  FRTFLLDSDYERIELGLLYEEKGERRGQVPCRSVWEYVDRLSKRTPVFHNYMYAPEDAEVLRPYSNVSNLKVWDFYTEET
SQ  LAEGPPYDWELAQGPPEPPEEERSDGGAPQSRRRVVWPCYDSCPRAQPDAISRLLEELQRLETELGQPAERWKDTWDRVK
SQ  AAQRLEGRPDGRGTPSSLLVSTAPHHRRSLGVYLQEGPVGSTLSLSLDSDQSSGSTTSGSRQAARRSTSTLYSQFQTAES
SQ  ENRSYEGTLYKKGAFMKPWKARWFVLDKTKHQLRYYDHRVDTECKGVIDLAEVEAVAPGTPTMGAPKTVDEKAFFDVKTT
SQ  RRVYNFCAQDVPSAQQWVDRIQSCLSDA
//