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Gene_locus Report for: human-PPT1

Homo sapiens (Human) palmitoyl-protein thioesterase (PPT)

Comment
Palmitoyl-protein thioesterase (PPT1) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. PPT is thought to be involved in the catabolism of lipid-modified proteins (Camp et al., 1994).The genes PPT1 and CLN2 (607998), which are mutant in Infantile neuronal ceroid lipofuscinosis. Insensitive to commonly used serine-modifying reagents phenylmethylsulfonyl fluoride (PMSF) and diisopropylfluorophosphate. See paper of structure of bovine enzyme 1EXW (Das et al. 2000) NCL Mutation and Patient Database NCL


Relationship
Family|Palmitoyl-protein_thioesterase
Block| X
Position in NCBI Life Tree|Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms: N E > Eukaryota: N E > Opisthokonta: N E > Metazoa: N E > Eumetazoa: N E > Bilateria: N E > Deuterostomia: N E > Chordata: N E > Craniata: N E > Vertebrata: N E > Gnathostomata: N E > Teleostomi: N E > Euteleostomi: N E > Sarcopterygii: N E > Dipnotetrapodomorpha: N E > Tetrapoda: N E > Amniota: N E > Mammalia: N E > Theria: N E > Eutheria: N E > Boreoeutheria: N E > Euarchontoglires: N E > Primates: N E > Haplorrhini: N E > Simiiformes: N E > Catarrhini: N E > Hominoidea: N E > Hominidae: N E > Homininae: N E > Homo: N E > Homo sapiens: N E


Molecular evidence
Database
73 mutations: Table (e.g. : C152X_human-PPT1, C152Y_human-PPT1, C45Y_human-PPT1 ... more)
1 structure:
3GRO: Human palmitoyl-protein thioesterase 1
No kinetic

Disease: Infantile neuronal ceroid lipofuscinosis -



No Substrate
2 inhibitors: ABC44, CS38
>3 Genbank links 17 more: AF022211, AF022203, AF022204
>3 UniProt links 3 more: P50897, B4DWU3, E9PP28
1 Ncbi-nid : 2465723
1 Ncbi-pid : 2465725
1 Structure : 3GRO
>3 UniProt links 3 more: P50897, B4DWU3, E9PP28
>3 Interpro links 3 more: P50897, B4DWU3, E9PP28
>3 Prodom links 3 more: P50897, B4DWU3, E9PP28
>3 Pfam links 3 more: P50897, B4DWU3, E9PP28
>3 PIRSF links 3 more: P50897, B4DWU3, E9PP28
>3 SUPERFAM links 3 more: P50897, B4DWU3, E9PP28
1 EntrezGene : 5538
1 SNP : 5538
1 UniGene : 3873
1 HUGO HGNC : 9325
2 OMIM : 600722, 256730
1 Ensembl : ENSG00000131238
Sequence
Graphical view for this peptide sequence: human-PPT1
Colored MSA for Palmitoyl-protein_thioesterase (raw)
MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSCCNPLS
MGAIKKMVEKKIPGIYVLSLEIGKTLMEDVENSFFLNVNSQVTTVCQALA
KDPKLQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVGGQHQGVFGLP
RCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSI
FLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVDSEWFGFYRSG
QAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAH
IIPFLG
Legend This sequence has been compared to family alignement (MSA)
red => minority aminoacid
blue => majority aminoacid
color intensity => conservation rate
title => sequence position(MSA position)aminoacid rate
Catalytic site
Catalytic site in the MSA

MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSCCNPLS
MGAIKKMVEKKIPGIYVLSLEIGKTLMEDVENSFFLNVNSQVTTVCQALA
KDPKLQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVGGQHQGVFGLP
RCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSI
FLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVDSEWFGFYRSG
QAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAH
IIPFLG


References
82 more
    Title: Depalmitoylation by Palmitoyl-Protein Thioesterase 1 in Neuronal Health and Degeneration
    Koster KP, Yoshii A
    Ref: Front Synaptic Neurosci, 11:25, 2019 : PubMed

            

    Title: cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis
    Schriner JE, Yi W, Hofmann SL
    Ref: Genomics, 34:317, 1996 : PubMed

            

    Title: Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
    Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L
    Ref: Nature, 376:584, 1995 : PubMed

            


Other Papers


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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