NP_001136076.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
palmitoyl-protein thioesterase 1 isoform 2
NCBI Official Synonym Full Names
palmitoyl-protein thioesterase 1
NCBI Protein Information
palmitoyl-protein thioesterase 1; palmitoyl-protein hydrolase 1; ceroid-palmitoyl-palmitoyl-protein thioesterase 1
UniProt Protein Name
Palmitoyl-protein thioesterase 1
UniProt Synonym Protein Names
Palmitoyl-protein hydrolase 1
UniProt Synonym Gene Names
UniProt Entry Name
PPT1_HUMAN
NCBI Summary for PPT1
The 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]
UniProt Comments for PPT1
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.
Catalytic activity: Palmitoyl-[protein] + H2O = palmitate + [protein].
Subcellular location: Lysosome.
Involvement in disease: Neuronal ceroid lipofuscinosis 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).Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18
Sequence similarities: Belongs to the palmitoyl-protein thioesterase family.
Research Articles on PPT1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-PPT1 antibody
Pathways associated with anti-PPT1 antibody
Diseases associated with anti-PPT1 antibody
Organs/Tissues associated with anti-PPT1 antibody
|