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

Gene ID: 51651, updated on 3-Jun-2018
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]
Expression
Ubiquitous expression in adrenal (RPKM 4.1), testis (RPKM 3.9) and 25 other tissues See more
Orthologs
See PTRH2 in Genome Data Viewer
Location:
17q23.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (59697306..59707626, 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 VMP1 intron CAGE-defined low expression enhancer 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane HDA 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    59697306..59707626 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524887.2XP_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
    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 ...
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