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Table 1 Neuronal Ceroid Lipofuscinoses (Batten Disease)

From: Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses

Mutant Gene NCL Disease Encoded Protein Classification and protein size Posttranslational modification Subcellular localization Function Interactions
CLN1 Infantile NCL (CLN1-disease) Palmitoyl protein thioesterase 1 (PPT1) soluble protein, 306 aa N-gly
M6P
Lysosomal lumen, extralysosomal vesicules, extracellular, presynaptic areas in neurons Palmitoy-protein lthioesterase S-acetylated proteins (GAP43, rhodopsin, saposin D)
CLN2 Late infantile NCL Tripeptidyl peptidase 1 (TPP1) soluble protein, 563 aa N-gly
M6P
Lysosomal lumen Serine protease CLN3, CLN5
CLN3 Juvenile NCL, Batten disease CLN3/Batenin 6 TM protein, 438 aa N-gly
farnesylated
phosphorylated
Late endosomal/lysosomal membrane, presynaptic vesicles Unknown / predicted: pH regulation and modulation of vesicular trafficking and fusion Hook1, kinesin-2, CLN5, Na+, K + ATPase, Rab7, fodrin
CLN4 Kuffs disease Cysteine-string protein alpha (CSPα), DNAJC5 soluble protein, 198 aa Palmitoylated Cytosolic, vesicular membranes Hsc70 co-chaperone involved in exocytosis and endocytosis CSPα, SNAP-25, myosin IIB, calsenilin, DHHC17, dynamin-1, syntaxin, Gαs, Rab3b, synaptotagmin 9, Hsp70, Hsp40, Hsp90, HIP, HOP, SGT
CLN5 CLN5 disease soluble protein, 407 aa N-gly
M6P
Lysosomal lumen Unknown / predicted: modulation of vesicular trafficking PPT1/CLN1, TPP1/CLN2, CLN3, CLN6, CLN8
CLN6 CLN6 disease CLN6-protein 7 TM protein, 311 aa None ER-membrane (transmembrane) Unknown CLN5, CLN6
CRMP-2
CLN7 Turkish variant of late-infantile NCL MFSD8 12 TM protein, 518 aa N-gly
proteolytic cleaved
Lysosomal membrane Predicted transmembrane transporter function predicted AP-1, cathepsin L
CLN8 NCL 8 CLN8 5 TM protein, 286 aa None ER-membrane (transmembrane) Unknown, predicted: to aid in the maturation of lysosomal proteins by transporting them from the ER to the Golgi complex, predicted regulation in lipid metabolism, CLN5, CLN8, syntaxin 8, VAPA, GATE16, AGA, ARSA, ARSB, ARSG, CTBS, CTSA, CTSB, CTSD, CTSF, CTSZ, DNASE2, GALNS, GGH, GM2A, GNS, GUSB, HPSE, IDS, LIPA, MAN2B1, MAN2B2, MPO, NAGA, NEU1, PCYOX1, PLBD2, PPT1, PPT2, PSAP, RNASET2, SGSH, SIAW, SMPD1, TPP1
CLN9 Currently designated as CLN4
CLN10 Congenital NCL Cathepsin D (CTSD) soluble protein, 462 aa N-gly
M6P
Lysosomal lumen Aspartyl protease APP, CST3, CTSB, proSAP, and several others
CLN11 Unknown Progranulin and granulins soluble protein, 593 aa None Extracellular Unknown/ predicted, roles in inflammation, embryogenesis, cell motility and tumorigenesis MMPs, ADAMs, TGFα receptors, sortilin, ADAMTS-7/ADAMTS-12/perlecan/HDL/COMP, TGNFα receptors, EPHA2
CLN12 Unknown ATPase 13A2, KRPPD, PARK9, HSA9947, RP-37C10.4 10 TM protein, 1180 aa None Lysosomal membrane Unknown / predicted regulation of ion homeostasis ~ 43 vesicular trafficking and synuclein misfolding postulated proteins
CLN13 Unknown Cathepsin F (CTSF) soluble protein, 484 aa N-gly
M6P
Lysosomal lumen Unknown / predicted: cysteine protease CD47 antigen
CLN14 Unknown Potassium channel tetramerization domain-containing protein 7 (KCTD7) soluble protein, 289 aa Phosphorylated Cytosolic, partially associated to membranes Unknown / predicted modulation of ion channel activity Cullin-3, KCTD7