Gene name: MCOLN1

Uniprot entry:

Q9GZU1

Protein names:

Mucolipin-1 (ML1) (MG-2) (Mucolipidin) (Transient receptor potential channel mucolipin 1) (TRPML1)

Protein sequence:

1_MTAPA 6_ GPRGS 11_ ETERL 16_ LTPNP 21_ GYGTQ 26_ AGPSP 31_ APPTP 36_ PEEED 41_ LRRRL 46_ KYFFM 51_ SPCDK 56_ FRAKG 61_ RKPCK 66_ LMLQV 71_ VKILV 76_ VTVQL 81_ ILFGL 86_ SNQLA 91_ VTFRE 96_ ENTIA 101_ FRHLF 106_ LLGYS 111_ DGADD 116_ TFAAY 121_ TREQL 126_ YQAIF 131_ HAVDQ 136_ YLALP 141_ DVSLG 146_ RYAYV 151_ RGGGD 156_ PWTNG 161_ SGLAL 166_ CQRYY 171_ HRGHV 176_ DPAND 181_ TFDID 186_ PMVVT 191_ DCIQV 196_ DPPER 201_ PPPPP 206_ SDDLT 211_ LLESS 216_ SSYKN 221_ LTLKF 226_ HKLVN 231_ VTIHF 236_ RLKTI 241_ NLQSL 246_ INNEI 251_ PDCYT 256_ FSVLI 261_ TFDNK 266_ AHSGR 271_ IPISL 276_ ETQAH 281_ IQECK 286_ HPSVF 291_ QHGDN 296_ SFRLL 301_ FDVVV 306_ ILTCS 311_ LSFLL 316_ CARSL 321_ LRGFL 326_ LQNEF 331_ VGFMW 336_ RQRGR 341_ VISLW 346_ ERLEF 351_ VNGWY 356_ ILLVT 361_ SDVLT 366_ ISGTI 371_ MKIGI 376_ EAKNL 381_ ASYDV 386_ CSILL 391_ GTSTL 396_ LVWVG 401_ VIRYL 406_ TFFHN 411_ YNILI 416_ ATLRV 421_ ALPSV 426_ MRFCC 431_ CVAVI 436_ YLGYC 441_ FCGWI 446_ VLGPY 451_ HVKFR 456_ SLSMV 461_ SECLF 466_ SLING 471_ DDMFV 476_ TFAAM 481_ QAQQG 486_ RSSLV 491_ WLFSQ 496_ LYLYS 501_ FISLF 506_ IYMVL 511_ SLFIA 516_ LITGA 521_ YDTIK 526_ HPGGA 531_ GAEES 536_ ELQAY 541_ IAQCQ 546_ DSPTS 551_ GKFRR 556_ GSGSA 561_ CSLLC 566_ CCGRD 571_PSEEH

Protein annotations

Protein functions:

1: Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis (PubMed:11013137, PubMed:12459486, PubMed:14749347, PubMed:15336987, PubMed:18794901, PubMed:25720963, PubMed:27623384, PubMed:29019983). Acts as a Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:25720963, PubMed:29019983). Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy (PubMed:11013137, PubMed:12459486, PubMed:14749347, PubMed:15336987, PubMed:25720963, PubMed:27623384, PubMed:29019983). Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (By similarity). Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission events (PubMed:16978393). By mediating lysosomal Ca(2+) release is involved in regulation of mTORC1 signaling and in mTOR/TFEB-dependent lysosomal adaptation to environmental cues such as nutrient levels (PubMed:25720963, PubMed:25733853, PubMed:27787197). Seems to act as lysosomal active oxygen species (ROS) sensor involved in ROS-induced TFEB activation and autophagy (PubMed:27357649). Also functions as a Fe(2+) permeable channel in late endosomes and lysosomes (PubMed:18794901). Also permeable to Mg(2+), Na(+). K(+) and Cs(+) (By similarity). Proposed to play a role in zinc homeostasis probably implicating its association with TMEM163 (PubMed:25130899) In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity)

2: May contribute to cellular lipase activity within the late endosomal pathway or at the cell surface which may be involved in processes of membrane reshaping and vesiculation, especially the growth of tubular structures. However, it is not known, whether it conveys the enzymatic activity directly, or merely facilitates the activity of an associated phospholipase