InnateDB Protein
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IDBP-601214.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PPT1
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Protein Name
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palmitoyl-protein thioesterase 1
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Synonyms
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CLN1; INCL; PPT;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000432053
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InnateDB Gene
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IDBG-96867 (PPT1)
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Protein Structure
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Function |
Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons.
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Subcellular Localization |
Lysosome.
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Disease Associations |
Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]: A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). {ECO:0000269PubMed:11506414, ECO:0000269PubMed:19201763, ECO:0000269PubMed:21990111, ECO:0000269PubMed:7637805, ECO:0000269PubMed:9425237, ECO:0000269PubMed:9664077}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
13
[view]
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Protein-Protein |
13
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0008474
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palmitoyl-(protein) hydrolase activity
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GO:0016290
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palmitoyl-CoA hydrolase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002472
Palmitoyl protein thioesterase
IPR029058
Alpha/Beta hydrolase fold
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PFAM |
PF02089
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PRINTS |
PR00414
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P50897
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PhosphoSite |
PhosphoSite-P50897
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TrEMBL |
E9PSE5
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UniProt Splice Variant |
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Entrez Gene |
5538
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UniGene |
Hs.3873
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RefSeq |
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HUGO |
HGNC:9325
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OMIM |
600722
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CCDS |
CCDS447
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HPRD |
07203
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IMGT |
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EMBL |
AF022203
AF022204
AF022205
AF022206
AF022207
AF022208
AF022209
AF022210
AF022211
AK302232
AK312287
AL512599
BC008426
CH471059
CR542053
L42809
U44772
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GenPept |
AAA85337
AAB06236
AAB72224
AAH08426
BAG35214
BAG63586
CAG46850
CAI11025
EAX07237
EAX07238
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