Gene name: MTM1

Uniprot entry:

Q13496

Protein names:

Myotubularin (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (EC 3.1.3.95) (Phosphatidylinositol-3-phosphate phosphatase) (EC 3.1.3.64)

Protein sequence:

1_MASAS 6_ TSKYN 11_ SHSLE 16_ NESIK 21_ RTSRD 26_ GVNRD 31_ LTEAV 36_ PRLPG 41_ ETLIT 46_ DKEVI 51_ YICPF 56_ NGPIK 61_ GRVYI 66_ TNYRL 71_ YLRSL 76_ ETDSS 81_ LILDV 86_ PLGVI 91_ SRIEK 96_ MGGAT 101_ SRGEN 106_ SYGLD 111_ ITCKD 116_ MRNLR 121_ FALKQ 126_ EGHSR 131_ RDMFE 136_ ILTRY 141_ AFPLA 146_ HSLPL 151_ FAFLN 156_ EEKFN 161_ VDGWT 166_ VYNPV 171_ EEYRR 176_ QGLPN 181_ HHWRI 186_ TFINK 191_ CYELC 196_ DTYPA 201_ LLVVP 206_ YRASD 211_ DDLRR 216_ VATFR 221_ SRNRI 226_ PVLSW 231_ IHPEN 236_ KTVIV 241_ RCSQP 246_ LVGMS 251_ GKRNK 256_ DDEKY 261_ LDVIR 266_ ETNKQ 271_ ISKLT 276_ IYDAR 281_ PSVNA 286_ VANKA 291_ TGGGY 296_ ESDDA 301_ YHNAE 306_ LFFLD 311_ IHNIH 316_ VMRES 321_ LKKVK 326_ DIVYP 331_ NVEES 336_ HWLSS 341_ LESTH 346_ WLEHI 351_ KLVLT 356_ GAIQV 361_ ADKVS 366_ SGKSS 371_ VLVHC 376_ SDGWD 381_ RTAQL 386_ TSLAM 391_ LMLDS 396_ FYRSI 401_ EGFEI 406_ LVQKE 411_ WISFG 416_ HKFAS 421_ RIGHG 426_ DKNHT 431_ DADRS 436_ PIFLQ 441_ FIDCV 446_ WQMSK 451_ QFPTA 456_ FEFNE 461_ QFLII 466_ ILDHL 471_ YSCRF 476_ GTFLF 481_ NCESA 486_ RERQK 491_ VTERT 496_ VSLWS 501_ LINSN 506_ KEKFK 511_ NPFYT 516_ KEINR 521_ VLYPV 526_ ASMRH 531_ LELWV 536_ NYYIR 541_ WNPRI 546_ KQQQP 551_ NPVEQ 556_ RYMEL 561_ LALRD 566_ EYIKR 571_ LEELQ 576_ LANSA 581_ KLSDP 586_ PTSPS 591_ SPSQM 596_MPHVQ

Protein annotations

Protein functions:

1: Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) (PubMed:10900271, PubMed:11001925, PubMed:12646134, PubMed:14722070). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides (PubMed:9537414). Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome (PubMed:14722070). Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture (PubMed:21135508). Plays a role in mitochondrial morphology and positioning (PubMed:21135508). Required for skeletal muscle maintenance but not for myogenesis (PubMed:21135508). In skeletal muscles, stabilizes MTMR12 protein levels (PubMed:23818870)