Ptrh2 peptidyl-tRNA hydrolase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ptrh2provided by MGI
Official Full Name: peptidyl-tRNA hydrolase 2provided by MGI
Primary source: MGI:MGI:2444848
See related: Ensembl:ENSMUSG00000072582 AllianceGenome:MGI:2444848
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bit1; PTH 2; CGI-147; A230072I16Rik
Summary: Predicted to enable aminoacyl-tRNA hydrolase activity. Predicted to be involved in negative regulation of anoikis; negative regulation of gene expression; and positive regulation of anoikis. Located in mitochondrion. Is expressed in embryo. Orthologous to human PTRH2 (peptidyl-tRNA hydrolase 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 10.6), liver E14 (RPKM 7.5) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 C; 11 51.82 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (86574900..86583283)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (86684074..86692457)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients.
Title: PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients.
Ptrh2 levels were up-regulated in dystrophin deficient mdx muscle, which correlates with the elevated levels of the a7b1 integrin observed in mdx muscle and Duchenne muscular dystrophy patients. Similar to the a7 integrin, Ptrh2 expression was decreased in laminin-a2 null gastrocnemius muscle
Title: PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.
These results support an unanticipated yet essential role for Bit-1 in controlling myogenesis through regulation of Bcl-2.
Title: Bit-1 is an essential regulator of myogenic differentiation.
downregulation of Bit1 specifically potentiated tumor metastasis in vivo
Title: Metastasis of tumor cells is enhanced by downregulation of Bit1.
Bit-1 mediates integrin-dependent cell survival through activation of the NFkappaB pathway
Title: Bit-1 mediates integrin-dependent cell survival through activation of the NFkappaB pathway.
These studies establish the physiological significance of Bit1 activity and begin to delineate a Bit1 signaling pathway that acts through Erk regulation.
Title: Anoikis effector Bit1 negatively regulates Erk activity.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ptrh2 (e-PCR), detects polymorphism
- UniSTS:516857

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables aminoacyl-tRNA hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aminoacyl-tRNA hydrolase activity	IEA Inferred from Electronic Annotation more info
enables aminoacyl-tRNA hydrolase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of anoikis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of anoikis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of anoikis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of anoikis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of anoikis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of anoikis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: peptidyl-tRNA hydrolase 2, mitochondrial

NP_001092280.1

EC 3.1.1.29

NP_778169.1

EC 3.1.1.29

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001098810.3 → NP_001092280.1 peptidyl-tRNA hydrolase 2, mitochondrial isoform b

See identical proteins and their annotated locations for NP_001092280.1

Status: VALIDATED

Source sequence(s)

AA271949, AK031620, AK038888

Consensus CDS

CCDS48876.1

UniProtKB/Swiss-Prot

Q8BI01, Q8BI31, Q8R2Y8

Related

ENSMUSP00000103657.2, ENSMUST00000108022.8

Conserved Domains (1) summary

cd02430
Location:67 → 181

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 ...
NM_175004.3 → NP_778169.1 peptidyl-tRNA hydrolase 2, mitochondrial isoform a

See identical proteins and their annotated locations for NP_778169.1

Status: VALIDATED

Source sequence(s)

AL592222

UniProtKB/Swiss-Prot

Q8R2Y8

Conserved Domains (1) summary

cd02430
Location:68 → 182

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 ...