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Details of RareLSD ID 1055

RareLSD_Id	1055
ENZYME	Palmitoylprotein thioesterase 2
GENE	PPT2
E.C.NUMBER	3.1.2.22
FAMILY	palmitoylprotein thioesterase
CYTOGENETICS	6p21.32
DISEASE	Neuronal Ceroid Lipofuscinosis & Narcolepsy
SNP	rs771678882,rs1000407887,rs1000918959,rs1000940084,rs1001259119
DEPOSIT	autofluorescent ceroid lipofuscin
REF	12855696, 10051407, 10417332
TEMP (in Celsius)	22
pI	NA
pH	7
Catalytic Nucleophile	Ser111
Catalytic Acid/Base	Met41, Gln116
Substrate	1-palmitoyl lysophosphatidylcholine + H2O
Product	glycerophosphocholine + palmitate
Structure(PDB/Phyre2_ID)	1PJA
kM	0.0273
DRUG	BUCCOLAM,Brivaracetam,Gemfibrozil
SEQ LENGTH	302
AA SEQ	MLGLCGQRLPAAWVLLLLPFLPLLLLAAPAPHRASYKPVIVVHGLFDSSYSFRHLLEYINETHPGTVVTVLDLFDGRESLRPLWEQVQGFREAVVPIMAKAPQGVHLICYSQGGLVCRALLSVMDDHNVDSFISLSSPQMGQYGDTDYLKWLFPTSMRSNLYRICYSPWGQEFSICNYWHDPHHDDLYLNASSFLALINGERDHPNATVWRKNFLRVGHLVLIGGPDDGVITPWQSSFFGFYDANETVLEMEEQLVYLRDSFGLKTLLARGAIVRCPMAGISHTAWHSNRTLYETCIEPWLS
MODIFICATION	N-linked Glycosylation:Asn60,Asn190,Asn206,Asn245,Asn289
INHIBITOR	1-palmitoyl lysophosphatidylcholine,Chloroquine,Didemnin B,diethyl,dicarbote,dithiothreitol,KCl,leupeptin,Cl,palmitoylpeptide, palmitate,Sodium vadate
ACTIVE SITE RESIDUE	Ser111,Asp228,His283
DISULPHIDE BRIDGES	*109-117,*165-176,*276-296
PSEUDOGENES	NA
MISCELLANEOUS	?? hydrolase fold constitutes the core of PPT2 and includes the catalytic triad formed by Ser111, His283, and Asp228; PPT2 has significantly higher thioesterase activity against lipids with chain lengths of fewer than 10 carbons or lipids with very large chain lengths
PARALOGS	PPT2,EGFL8,PPT1
MECHANISM	Removes thioesterlinked fatty acyl groups from substrates/SpalmitoylCoA.
INHERITANCE PATTERN	Autosomal recessive
ORGAN AFFECTED	Nervous System
ENZYME LOCATION	OD
UniProt ID	Q9UMR5