Human Gene PPT2 (uc011hci.2) Description and Page Index
Description: Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 3, mRNA. RefSeq Summary (NM_001204103): This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011]. Transcript (Including UTRs) Position: chr6_mann_hap4:3,464,620-3,474,285 Size: 9,666 Total Exon Count: 9 Strand: + Coding Region Position: chr6_mann_hap4:3,465,216-3,473,554 Size: 8,339 Coding Exon Count: 8
Press "+" in the title bar above to open this section.
Comments and Description Text from UniProtKB
ID:PPT2_HUMAN DESCRIPTION: RecName: Full=Lysosomal thioesterase PPT2; Short=PPT-2; EC=3.1.2.-; AltName: Full=S-thioesterase G14; Flags: Precursor; FUNCTION: Removes thioester-linked fatty acyl groups from various substrates including S-palmitoyl-CoA. Has the highest S- thioesterase activity for the acyl groups palmitic and myristic acid followed by other short- and long-chain acyl substrates. However, because of structural constraints, is unable to remove palmitate from peptides or proteins. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=67 uM for S-palmitoyl-CoA; KM=37 uM for S-palmitoyl-N-acetylcysteamine; KM=117 uM for 4-methylumbelliferyl-6-S-palmitoyl-beta-D- glucopyranoside; Vmax=1.7 umol/min/mg enzyme toward S-palmitoyl-CoA; Vmax=3.3 umol/min/mg enzyme toward S-palmitoyl-N- acetylcysteamine; Vmax=0.43 umol/min/mg enzyme toward 4-methylumbelliferyl-6-S- palmitoyl-beta-D-glucopyranoside; pH dependence: Optimum pH is 7.0; SUBCELLULAR LOCATION: Lysosome. TISSUE SPECIFICITY: Broadly expressed, with highest levels in skeletal muscle. SIMILARITY: Belongs to the palmitoyl-protein thioesterase family. CAUTION: Was originally (PubMed:9341199) referred as a palmitoyl- protein thioesterase (palmitoyl-protein hydrolase). SEQUENCE CAUTION: Sequence=AAB47495.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAB53659.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAG38577.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAI17426.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAI41763.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAI41797.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAM24823.1; Type=Erroneous gene model prediction; Sequence=CAM25714.1; Type=Erroneous gene model prediction; Sequence=CAM26213.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAM26216.1; Type=Erroneous gene model prediction; Sequence=CAQ06588.1; Type=Erroneous gene model prediction; Sequence=CAQ09561.1; Type=Erroneous gene model prediction; Sequence=CAQ09617.1; Type=Erroneous gene model prediction; Sequence=CAQ10692.1; Type=Erroneous gene model prediction;
Genetic Association Studies of Complex Diseases and Disorders
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UMR5
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.