Human Gene PTRH2 (ENST00000393038.3_11) from GENCODE V47lift37
  Description: peptidyl-tRNA hydrolase 2, transcript variant 2 (from RefSeq NM_016077.5)
Gencode Transcript: ENST00000393038.3_11
Gencode Gene: ENSG00000141378.15_12
Transcript (Including UTRs)
   Position: hg19 chr17:57,774,669-57,784,791 Size: 10,123 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr17:57,774,800-57,775,339 Size: 540 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:57,774,669-57,784,791)mRNA (may differ from genome)Protein (179 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PTH2_HUMAN
DESCRIPTION: RecName: Full=Peptidyl-tRNA hydrolase 2, mitochondrial; Short=PTH 2; EC=3.1.1.29; AltName: Full=Bcl-2 inhibitor of transcription 1; Flags: Precursor;
FUNCTION: The natural substrate for this enzyme may be peptidyl- tRNAs which drop off the ribosome during protein synthesis (By similarity).
FUNCTION: Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1.
CATALYTIC ACTIVITY: N-substituted aminoacyl-tRNA + H(2)O = N- substituted amino acid + tRNA.
SUBUNIT: Monomer.
INTERACTION: Q05397:PTK2; NbExp=2; IntAct=EBI-1056751, EBI-702142;
SUBCELLULAR LOCATION: Mitochondrion.
SIMILARITY: Belongs to the PTH2 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PTRH2
Diseases sorted by gene-association score: infantile-onset multisystem neurologic, endocrine, and pancreatic disease* (1550), microcephaly (3), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.10 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 135.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.7060-0.162 Picture PostScript Text
3' UTR -13.80131-0.105 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
IPR023476 - Pep_tRNA_hydro_II_dom
IPR002833 - Pep_tRNA_hydro_PTH2

Pfam Domains:
PF01981 - Peptidyl-tRNA hydrolase PTH2

SCOP Domains:
102462 - Peptidyl-tRNA hydrolase II

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1Q7S - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y3E5
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004045 aminoacyl-tRNA hydrolase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity

Biological Process:
GO:0006915 apoptotic process
GO:0010629 negative regulation of gene expression
GO:2000210 positive regulation of anoikis
GO:2000811 negative regulation of anoikis

Cellular Component:
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AF151905 - Homo sapiens CGI-147 protein mRNA, complete cds.
LF384787 - JP 2014500723-A/192290: Polycomb-Associated Non-Coding RNAs.
AL137322 - Homo sapiens mRNA; cDNA DKFZp434A1535 (from clone DKFZp434A1535); partial cds.
AK098219 - Homo sapiens cDNA FLJ40900 fis, clone UTERU2003411, highly similar to Peptidyl-tRNA hydrolase 2, mitochondrial precursor (EC 3.1.1.29).
BC006807 - Homo sapiens peptidyl-tRNA hydrolase 2, mRNA (cDNA clone MGC:4872 IMAGE:3446518), complete cds.
BC017457 - Homo sapiens peptidyl-tRNA hydrolase 2, mRNA (cDNA clone IMAGE:3920523).
AK057033 - Homo sapiens cDNA FLJ32471 fis, clone SKNMC2000322, highly similar to Peptidyl-tRNA hydrolase 2, mitochondrial precursor (EC 3.1.1.29).
BX647177 - Homo sapiens mRNA; cDNA DKFZp686L12223 (from clone DKFZp686L12223).
JD172432 - Sequence 153456 from Patent EP1572962.
JD358232 - Sequence 339256 from Patent EP1572962.
JD564764 - Sequence 545788 from Patent EP1572962.
EU832477 - Synthetic construct Homo sapiens clone HAIB:100067506; DKFZo008D0629 peptidyl-tRNA hydrolase 2 protein (PTRH2) gene, encodes complete protein.
EU832557 - Synthetic construct Homo sapiens clone HAIB:100067586; DKFZo004D0630 peptidyl-tRNA hydrolase 2 protein (PTRH2) gene, encodes complete protein.
AB528677 - Synthetic construct DNA, clone: pF1KB6859, Homo sapiens PTRH2 gene for peptidyl-tRNA hydrolase 2, without stop codon, in Flexi system.
LF327170 - JP 2014500723-A/134673: Polycomb-Associated Non-Coding RNAs.
LF327169 - JP 2014500723-A/134672: Polycomb-Associated Non-Coding RNAs.
LF327168 - JP 2014500723-A/134671: Polycomb-Associated Non-Coding RNAs.
LF327165 - JP 2014500723-A/134668: Polycomb-Associated Non-Coding RNAs.
JD342821 - Sequence 323845 from Patent EP1572962.
MA620364 - JP 2018138019-A/192290: Polycomb-Associated Non-Coding RNAs.
MA562747 - JP 2018138019-A/134673: Polycomb-Associated Non-Coding RNAs.
MA562746 - JP 2018138019-A/134672: Polycomb-Associated Non-Coding RNAs.
MA562745 - JP 2018138019-A/134671: Polycomb-Associated Non-Coding RNAs.
MA562742 - JP 2018138019-A/134668: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y3E5 (Reactome details) participates in the following event(s):

R-HSA-5696872 USP30 deubiquitinates Ub-MOM proteins
R-HSA-5689880 Ub-specific processing proteases
R-HSA-5688426 Deubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B3KUY4, BIT1, CGI-147, ENST00000393038.1, ENST00000393038.2, NM_016077, PTH2, PTH2_HUMAN, Q9NTE5, Q9Y3E5, uc318voe.1, uc318voe.2
UCSC ID: ENST00000393038.3_11
RefSeq Accession: NM_016077.5
Protein: Q9Y3E5 (aka PTH2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.