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    PTRH2 peptidyl-tRNA hydrolase 2 [ Homo sapiens (human) ]

    Gene ID: 51651, updated on 21-May-2017
    Official Symbol
    PTRH2provided by HGNC
    Official Full Name
    peptidyl-tRNA hydrolase 2provided by HGNC
    Primary source
    HGNC:HGNC:24265
    See related
    Ensembl:ENSG00000141378 MIM:608625; Vega:OTTHUMG00000154532
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PTH; BIT1; PTH2; PTH 2; CFAP37; IMNEPD; CGI-147
    Summary
    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]
    Orthologs
    Location:
    17q23.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (59697306..59707598, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (57774667..57784856, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene DEAH-box helicase 40 Neighboring gene clathrin heavy chain Neighboring gene vacuole membrane protein 1 Neighboring gene RNA, U6 small nuclear 450, pseudogene Neighboring gene microRNA 21

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
      Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
      Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ32471

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aminoacyl-tRNA hydrolase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of anoikis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of anoikis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    peptidyl-tRNA hydrolase 2, mitochondrial
    Names
    bcl-2 inhibitor of transcription 1
    cilia and flagella associated protein 37
    NP_001015509.1
    NP_057161.1
    XP_011523189.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042064.1 RefSeqGene

      Range
      5001..15293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001015509.2NP_001015509.1  peptidyl-tRNA hydrolase 2, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_001015509.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AF151905, BC017457, DA092491
      Consensus CDS
      CCDS77076.1
      UniProtKB/Swiss-Prot
      Q9Y3E5
      UniProtKB/TrEMBL
      J3KQ48
      Related
      ENSP00000387180.2, OTTHUMP00000205936, ENST00000409433.2, OTTHUMT00000335785
      Conserved Domains (1) summary
      cd02430
      Location:66180
      PTH2; Peptidyl-tRNA hydrolase, type 2 (PTH2). Peptidyl-tRNA hydrolase (PTH) activity releases tRNA from the premature translation termination product peptidyl-tRNA, therefore allowing the tRNA and peptide to be reused in protein synthesis. PTH2 is present in ...
    2. NM_016077.4NP_057161.1  peptidyl-tRNA hydrolase 2, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_057161.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform b which is one amino acid shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AF151905, DA092491
      Consensus CDS
      CCDS11618.1
      UniProtKB/Swiss-Prot
      Q9Y3E5
      Related
      ENSP00000376758.2, OTTHUMP00000205935, ENST00000393038.2, OTTHUMT00000335784
      Conserved Domains (1) summary
      cd02430
      Location:65179
      PTH2; Peptidyl-tRNA hydrolase, type 2 (PTH2). Peptidyl-tRNA hydrolase (PTH) activity releases tRNA from the premature translation termination product peptidyl-tRNA, therefore allowing the tRNA and peptide to be reused in protein synthesis. PTH2 is present in ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      59697306..59707598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524887.1XP_011523189.1  peptidyl-tRNA hydrolase 2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011523189.1

      UniProtKB/Swiss-Prot
      Q9Y3E5
      Related
      ENSP00000464327.1, OTTHUMP00000262600, ENST00000470557.2, OTTHUMT00000448482
      Conserved Domains (1) summary
      cd02430
      Location:65179
      PTH2; Peptidyl-tRNA hydrolase, type 2 (PTH2). Peptidyl-tRNA hydrolase (PTH) activity releases tRNA from the premature translation termination product peptidyl-tRNA, therefore allowing the tRNA and peptide to be reused in protein synthesis. PTH2 is present in ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      57839688..57849977 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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