PTRH2 - peptidyl-tRNA hydrolase 2 Gene

Also Known as PTH; BIT1; PTH2; PTH 2; CFAP37; IMNEPD; CGI-147

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51651

About PTRH2

Cytogenetic location: 17q23.1 Genomic coordinates (GRCh38): 17:59,697,308-59,707,430 (from NCBI)

This gene has 5 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 4.1), testis (RPKM 3.9) and 25 other tissues.

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]

PTRH2 Products (2)

mRNA Protein Name
NM_001015509.3 NP_001015509.1 peptidyl-tRNA hydrolase 2, mitochondrial isoform a
NM_016077.5 NP_057161.1 peptidyl-tRNA hydrolase 2, mitochondrial isoform b precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables aminoacyl-tRNA hydrolase activity IMP
IMP: Inferred from mutant phenotype
14660562 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15006356 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of anoikis IMP
IMP: Inferred from mutant phenotype
21383007 GOA
involved in negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
15006356 GOA
involved in positive regulation of anoikis IMP
IMP: Inferred from mutant phenotype
15006356 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IMP
IMP: Inferred from mutant phenotype
15006356 GOA
located in mitochondrial outer membrane IDA
IDA: Inferred from direct assay
27184847 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
15006356 GOA
located in mitochondrion IMP
IMP: Inferred from mutant phenotype
22952044 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PTRH2 Protein Structure

PTH2

PTH2: Peptidyl-tRNA hydrolase PTH2 (64 - 179)

  • 0
  • 100
  • 179 a.a.
Protein Preferred Names Protein Names

peptidyl-tRNA hydrolase 2, mitochondrial

  • bcl-2 inhibitor of transcription 1

PTRH2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PTRH2 Q9Y3E5 TLE5 Homo sapiens Q08117
Anti Bait CoIP
15006356
Intra
PTRH2 Q9Y3E5 TLE5 Homo sapiens Q08117
Anti Tag CoIP
15006356
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PTRH2 Proteins

Cat. No. Product Name Accession Purity
HY-P76559 PTRH2 Protein, Human (His) Q9Y3E5 (G63-Y179) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1

  • Imnepd

  • Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset

  • IMNEPD1

  • Infantile-Onset Multisystem Neurologic, Endocrine, And Pancreatic Disease

  • Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease

  • Multisystem Neurologic, Endocrine, And Pancreatic Disease, Infantile-Onset
Aceruloplasminemia

  • Cerebellar Ataxia

  • Hypoceruloplasminemia

  • Hemosiderosis, Systemic, Due To Aceruloplasminemia

  • Familial Apoceruloplasmin Deficiency

  • Hereditary Ceruloplasmin Deficiency

  • Deficiency Of Ferroxidase

  • Hypoceruloplasminemia, Hereditary

  • Ceruloplasmin Deficiency

  • Systemic Hemosiderosis Due To Aceruloplasminemia

  • ACERULOP
Mitochondrial Complex Iii Deficiency, Nuclear Type 2

  • Mitochondrial Complex Iii Deficiency Nuclear Type 2

  • MC3DN2

  • Mitochondrial Complex Ii Deficiency, Nuclear Type 3

  • MC2DN3

  • Mitochondrial Complex 2 Deficiency, Nuclear Type 3

  • Mitochondrial Complex Iii Deficiency, Nuclear 2
Polyneuropathy

  • Polyneuropathies
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Exotropia

  • Divergent Concomitant Strabismus

  • Divergent Strabismus

  • Divergent Squint

  • External Strabismus

  • Xt - [Exotropia]
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

  • Dysequilibrium Syndrome

  • CAMRQ1

  • Des

  • Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

  • Cerebellar Hypoplasia, Vldlr-Associated

  • Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

  • Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

  • Uner Tan Syndrome

  • Vldlr Cerebellar Hypoplasia

  • Vldlrch

  • Vldlr-Associated Cerebellar Hypoplasia

  • Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

  • Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

  • Camrq

  • Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

  • Cerebellar Disorder, Nonprogressive, With Intellectual Disability

  • Cerebellar Hypoplasia, Vldlr Associated

  • Autosomal Recessive Cerebellar Ataxia With Mental Retardation

  • Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

  • Cerebellar Disorder, Nonprogressive, With Mental Retardation

  • Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

  • Chmrq1

  • Des-Vldlr

  • Dysequilibrium Syndrome-Vldlr

  • Vldlr-Ch

  • Camrq Syndrome

  • Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

  • Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

  • Uts

  • Cerebellar Hypoplasia Vldlr-Associated

  • Dialysis Disequilibrium Syndrome
Galloway-Mowat Syndrome

  • Galloway Mowat Syndrome

  • Galloway Syndrome

  • Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

  • Microcephaly Nephrosis Syndrome

  • Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

  • Nephrosis Neuronal Dysmigration Syndrome

  • Microcephaly-Hiatus Hernia-Nephrotic Syndrome

  • Nephrosis-Neuronal Dysmigration Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11454 PTRH2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20092 Ptrh2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26595 Ptrh2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta PTRH2 VGNC VGNC:76526
Bos taurus PTRH2 VGNC VGNC:33562
Felis catus PTRH2 VGNC VGNC:64433
Mus musculus PTRH2 MGD MGI:2444848
Canis familiaris PTRH2 VGNC VGNC:45202
Rattus norvegicus PTRH2 RGD RGD:1306819
Others PTRH2 NCBI