PPT1 recombinant protein

PPT1 Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121769

• Gene Names: PPT1; PPT; CLN1; INCL
• Purity: >90% as determined by SDS-PAGE
• Synonyms: PPT1; PPT1 Protein; Human; Recombinant (His Tag); Human PPT1/Palmitoyl-protein thioesterase 1 Protein (His Tag); CLN1 Protein; INCL Protein; PPT Protein; palmitoyl-protein thioesterase 1; PPT1 recombinant protein

• Host: HEK293 Cells
• Purity/Purification: >90% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Gly306

• Species: Human
• Endotoxin: <1.0EU per ug of the protein as determined by the LAL method
• Predicted N Terminal: Asp 28
• Tag: C-His
• Protein Construction: A DNA sequence encoding the human PPT1 (P50897-1)(Met1-Gly306) was expressed with a C-terminal polyhistidine tag.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for PPT1 recombinant protein

Background: Mutations in the depalmitoylating enzyme gene, PPT1, cause the infantile form of Neuronal Ceroid Lipofuscinosis (NCL), an early onset neurodegenerative disease. Mutations in palmitoyl protein thioesterase-1 (PPT1) have been found to cause the infantile form of neuronal ceroid lipofuscinosis, which is a lysosomal storage disorder characterized by impaired degradation of fatty acid-modified proteins with accumulation of amorphous granular deposits in cortical neurons, leading to mental retardation and death. PPT1 catalyzes the cleavage of thioester linkages in S-acylated (palmitoylated) proteins and its deficiency leads to abnormal accumulation of thioesterified polypeptides (ceroid) in lysosomes causing INCL pathogenesis.

NCBI and Uniprot Product Information

• NCBI GI #: 4506031
• NCBI GeneID: 5538
• NCBI Accession #: NP_000301.1
• NCBI GenBank Nucleotide #: NM_000310.3
• UniProt Accession #: P50897; Q6FGQ4; B4DY24
• Molecular Weight: 23,094 Da
• NCBI Official Full Name: palmitoyl-protein thioesterase 1 isoform 1
• NCBI Official Synonym Full Names: palmitoyl-protein thioesterase 1
• NCBI Official Symbol: PPT1
• NCBI Official Synonym Symbols: PPT; CLN1; INCL
• NCBI Protein Information: palmitoyl-protein thioesterase 1
• UniProt Protein Name: Palmitoyl-protein thioesterase 1
• Protein Family: Palmitoyl-protein thioesterase
• UniProt Gene Name: PPT1
• UniProt Synonym Gene Names: PPT; PPT-1
• UniProt Entry Name: PPT1_HUMAN

NCBI Description

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 Description

PPT1: 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. Defects in PPT1 are the cause of neuronal ceroid lipofuscinosis type 1 (CLN1). 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). Belongs to the palmitoyl-protein thioesterase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Lipid Metabolism - fatty acid elongation in mitochondria; EC 3.1.2.22; Hydrolase

Chromosomal Location of Human Ortholog: 1p32

Cellular Component: axon; cell soma; cytosol; dendrite; extracellular region; extracellular space; Golgi apparatus; lipid raft; lysosomal lumen; lysosome; membrane; nucleus; synaptic vesicle

Molecular Function: palmitoyl-(protein) hydrolase activity; palmitoyl-CoA hydrolase activity

Biological Process: adult locomotory behavior; associative learning; brain development; cellular protein catabolic process; cofactor metabolic process; cofactor transport; grooming behavior; lipid catabolic process; lipid raft organization and biogenesis; lysosomal lumen acidification; negative regulation of apoptosis; negative regulation of cell growth; negative regulation of neuron apoptosis; nervous system development; neuron development; neurotransmitter secretion; pinocytosis; positive regulation of pinocytosis; positive regulation of receptor-mediated endocytosis; protein catabolic process; protein depalmitoylation; protein transport; receptor-mediated endocytosis; regulation of phospholipase A2 activity; regulation of synapse structure and activity; response to stimulus; sphingolipid catabolic process; synaptic transmission; visual perception

Disease: Ceroid Lipofuscinosis, Neuronal, 1