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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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-  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
  Genetic Association Database: PPT2
CDC HuGE Published Literature: PPT2
Positive Disease Associations: Diabetes Mellitus, Type 1
Related Studies:
  1. Diabetes Mellitus, Type 1
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -165.43404-0.409 Picture PostScript Text
3' UTR -246.77731-0.338 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002472 - Palm_thioest

Pfam Domains:
PF02089 - Palmitoyl protein thioesterase

SCOP Domains:
53474 - alpha/beta-Hydrolases

Protein Data Bank (PDB) 3-D Structure

1PJA
- X-ray Chimera LS-SNP
Chimera help

ModBase Predicted Comparative 3D Structure on Q9UMR5
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-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  AK307427 - Homo sapiens cDNA, FLJ97375.
AL110128 - Homo sapiens mRNA; cDNA DKFZp564P1516 (from clone DKFZp564P1516).
AF020544 - Homo sapiens inactive palmitoyl-protein thioesterase-2i (PPT2) mRNA, complete cds.
AF020543 - Homo sapiens palmitoyl-protein thioesterase-2 (PPT2) mRNA, complete cds.
AK296648 - Homo sapiens cDNA FLJ52513 complete cds, highly similar to Lysosomal thioesterase PPT2 precursor (EC 3.1.2.-).
Y17958 - Homo sapiens mRNA for palmitoyl protein thioesterase 2.
AK290473 - Homo sapiens cDNA FLJ78536 complete cds, highly similar to Homo sapiens inactive palmitoyl-protein thioesterase-2i (PPT2) mRNA.
BC001355 - Homo sapiens palmitoyl-protein thioesterase 2, mRNA (cDNA clone MGC:1313 IMAGE:3050231), complete cds.
BC000955 - Homo sapiens cDNA clone IMAGE:3450442, containing frame-shift errors.
AK292729 - Homo sapiens cDNA FLJ75166 complete cds, highly similar to Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcriptvariant 3, mRNA.
AM392834 - Synthetic construct Homo sapiens clone IMAGE:100001744 for hypothetical protein (PPT2 gene).
CR533546 - Homo sapiens full open reading frame cDNA clone RZPDo834H0819D for gene PPT2, palmitoyl-protein thioesterase 2; complete cds, incl. stopcodon.
EU832418 - Synthetic construct Homo sapiens clone HAIB:100067447; DKFZo004F0728 palmitoyl-protein thioesterase 2 protein (PPT2) gene, encodes complete protein.
EU832333 - Synthetic construct Homo sapiens clone HAIB:100067362; DKFZo008F0727 palmitoyl-protein thioesterase 2 protein (PPT2) gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00062 - Fatty acid elongation in mitochondria
hsa01100 - Metabolic pathways
hsa04142 - Lysosome

-  Other Names for This Gene
  Alternate Gene Symbols: A2ABC9, A2ABD1, A2ARM7, A2BFH7, A2BFH9, A2BFI2, A8K9L4, B0S868, NM_001204103, NP_005146, O14799, PPT2_HUMAN, Q0P6K0, Q5JP13, Q5JP14, Q5JQF0, Q5SSX4, Q5SSX5, Q5SSX6, Q5STJ4, Q5STJ5, Q5STJ6, Q6FI80, Q99945, Q9UMR5
UCSC ID: uc011hci.2
RefSeq Accession: NM_001204103
Protein: Q9UMR5 (aka PPT2_HUMAN