Palmitoyl protein thioesterase

Palmitoyl protein thioesterase

Pfam_box
Symbol = Palm_thioest
Name =



width =250
caption =Palmitoyl protein thioesterase 1. Red plane shows hydrocarbon boundary of the lipid bilayer
Pfam= PF02089
InterPro= IPR002472
SMART=
Prosite =
SCOP = 1exw
TCDB =
OPM family=135
OPM protein= 1eh5
PDB=PDB3|1eh5A:28-306 PDB3|1ei9A:28-306 PDB3|1exwA:28-306PDB3|1pjaA:32-302

Palmitoyl protein thioesterases are enzymes (EC number|3.1.2.22) that remove thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation.

Neuronal ceroid lipofuscinoses (NCL) represent a group of encephalopathies that occur in 1 in 12,500 children. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosiscite journal |author=Hofmann SL, Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Peltonen L |title=Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis |journal=Nature |volume=376 |issue=6541 |pages=584–587 |year=1995 |pmid=7637805 |doi=10.1038/376584a0] . The most common mutation results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain. Direct sequencing of cDNAs derived from brain RNA of INCL patients has shown a mis-sense transversion of A to T at nucleotide position 364, which results in substitution of Trp for Arg at position 122 in the protein - Arg 122 is immediately adjacent to a lipase consensus sequence that contains the putative active site Ser of PPT. The occurrence of this and two other independent mutations in the PPT gene strongly suggests that defects in this gene cause INCL.

Human proteins containing this domain

PPT1; PPT2;

References


Wikimedia Foundation. 2010.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • Palmitoyl(protein) hydrolase — In enzymology, a palmitoyl [protein] hydrolase (EC number|3.1.2.22) is an enzyme that catalyzes the chemical reaction:palmitoyl [protein] + H2O ightleftharpoons palmitate + proteinThus, the two substrates of this enzyme are [palmitoyl [protein]… …   Wikipedia

  • Palmitoyl thioesterase — protein Name=palmitoyl protein thioesterase 1 (ceroid lipofuscinosis, neuronal 1, infantile) caption= width= HGNCid=9325 Symbol=PPT1 AltSymbols=PPT EntrezGene=5538 OMIM=600722 RefSeq=NM 000310 UniProt=P50897 PDB= ECnumber= Chromosome=1 Arm=p Band …   Wikipedia

  • Protein tyrosine phosphatase — Protein tyrosine phosphatases (PTPs) are a group of enzymes that remove phosphate groups from phosphorylated tyrosine residues on proteins. Protein tyrosine (pTyr) phosphorylation is a common post translational modification that can create novel… …   Wikipedia

  • Arylsulfatase A — PDB rendering based on 1auk …   Wikipedia

  • Neuronal ceroid lipofuscinosis — Classification and external resources ICD 10 E75.4 ICD 9 330.1 …   Wikipedia

  • N-acyl phosphatidylethanolamine-specific phospholipase D — N acyl phosphatidylethanolamine phospholipase D Identifiers Symbol NAPEPLD Entrez 222236 HUGO …   Wikipedia

  • PDE3 — phosphodiesterase 3A, cGMP inhibited Identifiers Symbol PDE3A Entrez 5139 HUGO …   Wikipedia

  • OCRL — Oculocerebrorenal syndrome of Lowe PDB rendering based on 2qv2 …   Wikipedia

  • Micrococcal nuclease — Ribbon schematic of micrococcal nuclease 3D structure, with Ca2+ and TdtP inhibitor Micrococcal Nuclease (S7 Nuclease or MNase) is an endo exonuclease that preferentially digests single stranded nucleic acids.The rate of cleavage is 30 times… …   Wikipedia

  • Deoxyribonuclease I — Identifiers Symbols DNASE1; DKFZp686H0155; DNL1; DRNI; FLJ38093; FLJ44902 External IDs …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”