Torsin-1A (Dystonia 1 protein) (Torsin ATPase-1A) (EC 3.6.4.-) (Torsin family 1 member A)
1_MKLGR 6_ AVLGL 11_ LLLAP 16_ SVVQA 21_ VEPIS 26_ LGLAL 31_ AGVLT 36_ GYIYP 41_ RLYCL 46_ FAECC 51_ GQKRS 56_ LSREA 61_ LQKDL 66_ DDNLF 71_ GQHLA 76_ KKIIL 81_ NAVFG 86_ FINNP 91_ KPKKP 96_ LTLSL 101_ HGWTG 106_ TGKNF 111_ VSKII 116_ AENIY 121_ EGGLN 126_ SDYVH 131_ LFVAT 136_ LHFPH 141_ ASNIT 146_ LYKDQ 151_ LQLWI 156_ RGNVS 161_ ACARS 166_ IFIFD 171_ EMDKM 176_ HAGLI 181_ DAIKP 186_ FLDYY 191_ DLVDG 196_ VSYQK 201_ AMFIF 206_ LSNAG 211_ AERIT 216_ DVALD 221_ FWRSG 226_ KQRED 231_ IKLKD 236_ IEHAL 241_ SVSVF 246_ NNKNS 251_ GFWHS 256_ SLIDR 261_ NLIDY 266_ FVPFL 271_ PLEYK 276_ HLKMC 281_ IRVEM 286_ QSRGY 291_ EIDED 296_ IVSRV 301_ AEEMT 306_ FFPKE 311_ ERVFS 316_ DKGCK 321_ TVFTK 326_LDYYY
1: Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function with TOR1B in non-neural tissues