AAH06807.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Peptidyl-tRNA hydrolase 2
NCBI Official Synonym Full Names
peptidyl-tRNA hydrolase 2
NCBI Protein Information
peptidyl-tRNA hydrolase 2, mitochondrial; PTH 2; bcl-2 inhibitor of transcription 1; cilia and flagella associated protein 37
UniProt Protein Name
Peptidyl-tRNA hydrolase 2, mitochondrial
UniProt Synonym Protein Names
Bcl-2 inhibitor of transcription 1
UniProt Synonym Gene Names
UniProt Entry Name
PTH2_HUMAN
NCBI Summary for PTRH2
The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
UniProt Comments for PTRH2
PTRH2: The natural substrate for this enzyme may be peptidyl- tRNAs which drop off the ribosome during protein synthesis. Monomer. Belongs to the PTH2 family.
Protein type: EC 3.1.1.29; Mitochondrial; Hydrolase
Chromosomal Location of Human Ortholog: 17q23.1
Cellular Component: mitochondrion; membrane; cytosol
Molecular Function: protein binding; aminoacyl-tRNA hydrolase activity
Biological Process: metabolic process; apoptosis
Disease: Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-onset
Research Articles on PTRH2
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Pathways associated with anti-PTRH2 antibody
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