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MGP002406

Record overview

MGPD IDMGP002406
Gene ID5538
SpeciesHomo sapiens (Human)
Gene Namepalmitoyl-protein thioesterase 1
Gene Symbol PPT1
SynonymsPPT; CLN1; INCL;
Alternate namespalmitoyl-protein thioesterase 1; ceroid-palmitoyl-palmitoyl-protein thioesterase 1; palmitoyl-protein hydrolase 1;
Chromosome1
Map Location1p32
EC Number3.1.2.22
SummaryThe protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
OrthologsView orthologs and multiple alignments for PPT1

Proteins

palmitoyl-protein thioesterase 1 isoform 1 precursor
Refseq ID:NP_000301
Protein GI:4506031
UniProt ID:P50897
mRNA ID:NM_000310
Length:306
RefSeq Status:
MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEKKIPGIYVLSLEIGKTLMEDVENSFFLNVNSQVTTVCQALA
KDPKLQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVGGQHQGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSI
FLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAH
IIPFLG
 
sig_peptide: 1..27
calculated_mol_wt: 2923
peptide sequence: 
MASPGCLWLLAVALLPWTCASRALQHL

mat_peptide: 28..306
product: palmitoyl-protein thioesterase 1 isoform 1
calculated_mol_wt: 31289
peptide sequence: 
DPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEKKIPGIYVLSLEIGKTLMEDVENSFFLNVNSQVTTVCQALAKDPKLQQGYNAMGFSQGGQFLRAVAQR
CPSPPMINLISVGGQHQGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVM
VKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG
 
palmitoyl-protein thioesterase 1 isoform 2 precursor
Refseq ID:NP_001136076
Protein GI:217272890
UniProt ID:P50897
mRNA ID:NM_001142604
Length:203
RefSeq Status:
MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLA
DINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIP
FLG
 
sig_peptide: 1..27
calculated_mol_wt: 2923
peptide sequence: 
MASPGCLWLLAVALLPWTCASRALQHL

mat_peptide: 28..306
product: palmitoyl-protein thioesterase 1 isoform 1
calculated_mol_wt: 31289
peptide sequence: 
DPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEKKIPGIYVLSLEIGKTLMEDVENSFFLNVNSQVTTVCQALAKDPKLQQGYNAMGFSQGGQFLRAVAQR
CPSPPMINLISVGGQHQGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVM
VKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG

sig_peptide: 1..27
calculated_mol_wt: 2923
peptide sequence: 
MASPGCLWLLAVALLPWTCASRALQHL

mat_peptide: 28..203
product: palmitoyl-protein thioesterase 1 isoform 2
calculated_mol_wt: 20189
peptide sequence: 
DPPAPLPLVIWHGMGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKF
LNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG
 
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