Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Peptidyl-tRNA hydrolase 2, mitochondrial

Gene

PTRH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

The natural substrate for this enzyme may be peptidyl-tRNAs which drop off the ribosome during protein synthesis.By similarity
Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1.1 Publication

Catalytic activityi

N-substituted aminoacyl-tRNA + H2O = N-substituted amino acid + tRNA.

GO - Molecular functioni

  • aminoacyl-tRNA hydrolase activity Source: CAFA

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processApoptosis

Enzyme and pathway databases

BRENDAi3.1.1.29 2681
ReactomeiR-HSA-5689880 Ub-specific processing proteases
SIGNORiQ9Y3E5

Protein family/group databases

MoonDBiQ9Y3E5 Curated
MoonProtiQ9Y3E5

Names & Taxonomyi

Protein namesi
Recommended name:
Peptidyl-tRNA hydrolase 2, mitochondrial (EC:3.1.1.29)
Short name:
PTH 2
Alternative name(s):
Bcl-2 inhibitor of transcription 1
Gene namesi
Name:PTRH2
Synonyms:BIT1, PTH2
ORF Names:CGI-147
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000141378.14
HGNCiHGNC:24265 PTRH2
MIMi608625 gene
neXtProtiNX_Q9Y3E5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset (IMNEPD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA progressive multisystem disease characterized by a variety of neurologic, endocrine, and, in some patients, pancreatic features. Variable clinical symptoms include global developmental delay, hypotonia, hearing loss, ataxia, hyporeflexia, facial dysmorphism, hypothyroidism, and pancreatic insufficiency.
See also OMIM:616263
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07338685Q → P in IMNEPD. 1 PublicationCorresponds to variant dbSNP:rs730882234EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi51651
MalaCardsiPTRH2
MIMi616263 phenotype
OpenTargetsiENSG00000141378
Orphaneti456312 Infantile multisystem neurologic-endocrine-pancreatic disease
PharmGKBiPA143485586

Polymorphism and mutation databases

BioMutaiPTRH2
DMDMi6686183

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 62MitochondrionSequence analysisAdd BLAST62
ChainiPRO_000002986263 – 179Peptidyl-tRNA hydrolase 2, mitochondrialAdd BLAST117

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki47Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki76Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki81Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki95Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki106Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki115Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki171Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki177Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Post-translational modificationi

Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ9Y3E5
MaxQBiQ9Y3E5
PaxDbiQ9Y3E5
PeptideAtlasiQ9Y3E5
PRIDEiQ9Y3E5
ProteomicsDBi86030
TopDownProteomicsiQ9Y3E5

PTM databases

iPTMnetiQ9Y3E5
PhosphoSitePlusiQ9Y3E5
SwissPalmiQ9Y3E5

Expressioni

Gene expression databases

BgeeiENSG00000141378 Expressed in 222 organ(s), highest expression level in layer of synovial tissue
CleanExiHS_PTH2
HS_PTRH2
ExpressionAtlasiQ9Y3E5 baseline and differential
GenevisibleiQ9Y3E5 HS

Organism-specific databases

HPAiHPA012897

Interactioni

Subunit structurei

Monomer.

Binary interactionsi

Protein-protein interaction databases

BioGridi119659, 51 interactors
IntActiQ9Y3E5, 10 interactors
MINTiQ9Y3E5
STRINGi9606.ENSP00000376758

Structurei

Secondary structure

1179
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9Y3E5
SMRiQ9Y3E5
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y3E5

Family & Domainsi

Sequence similaritiesi

Belongs to the PTH2 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3282 Eukaryota
COG1990 LUCA
GeneTreeiENSGT00390000015991
HOGENOMiHOG000227349
HOVERGENiHBG049458
InParanoidiQ9Y3E5
KOiK04794
OMAiKQVIVVR
PhylomeDBiQ9Y3E5
TreeFamiTF324583

Family and domain databases

CDDicd02430 PTH2, 1 hit
Gene3Di3.40.1490.10, 1 hit
InterProiView protein in InterPro
IPR023476 Pep_tRNA_hydro_II_dom_sf
IPR002833 PTH2
PANTHERiPTHR12649 PTHR12649, 1 hit
PfamiView protein in Pfam
PF01981 PTH2, 1 hit
SUPFAMiSSF102462 SSF102462, 1 hit
TIGRFAMsiTIGR00283 arch_pth2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9Y3E5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPSKSLVMEY LAHPSTLGLA VGVACGMCLG WSLRVCFGML PKSKTSKTHT
60 70 80 90 100
DTESEASILG DSGEYKMILV VRNDLKMGKG KVAAQCSHAA VSAYKQIQRR
110 120 130 140 150
NPEMLKQWEY CGQPKVVVKA PDEETLIALL AHAKMLGLTV SLIQDAGRTQ
160 170
IAPGSQTVLG IGPGPADLID KVTGHLKLY
Length:179
Mass (Da):19,194
Last modified:November 1, 1999 - v1
Checksum:i11A0BA9ECF6B5E46
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KQ48J3KQ48_HUMAN
Peptidyl-tRNA hydrolase 2, mitochon...
PTRH2
180Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07338685Q → P in IMNEPD. 1 PublicationCorresponds to variant dbSNP:rs730882234EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151905 mRNA Translation: AAD34142.1
AK098219 mRNA Translation: BAG53596.1
CH471109 Genomic DNA Translation: EAW94394.1
BC006807 mRNA Translation: AAH06807.1
AL137322 mRNA Translation: CAB70696.1
CCDSiCCDS11618.1
PIRiT46479
RefSeqiNP_001015509.1, NM_001015509.2
NP_057161.1, NM_016077.4
XP_011523189.1, XM_011524887.1
UniGeneiHs.12677

Genome annotation databases

EnsembliENST00000393038; ENSP00000376758; ENSG00000141378
ENST00000470557; ENSP00000464327; ENSG00000141378
GeneIDi51651
KEGGihsa:51651
UCSCiuc002ixt.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151905 mRNA Translation: AAD34142.1
AK098219 mRNA Translation: BAG53596.1
CH471109 Genomic DNA Translation: EAW94394.1
BC006807 mRNA Translation: AAH06807.1
AL137322 mRNA Translation: CAB70696.1
CCDSiCCDS11618.1
PIRiT46479
RefSeqiNP_001015509.1, NM_001015509.2
NP_057161.1, NM_016077.4
XP_011523189.1, XM_011524887.1
UniGeneiHs.12677

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Q7SX-ray2.00A/B63-179[»]
ProteinModelPortaliQ9Y3E5
SMRiQ9Y3E5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119659, 51 interactors
IntActiQ9Y3E5, 10 interactors
MINTiQ9Y3E5
STRINGi9606.ENSP00000376758

Protein family/group databases

MoonDBiQ9Y3E5 Curated
MoonProtiQ9Y3E5

PTM databases

iPTMnetiQ9Y3E5
PhosphoSitePlusiQ9Y3E5
SwissPalmiQ9Y3E5

Polymorphism and mutation databases

BioMutaiPTRH2
DMDMi6686183

Proteomic databases

EPDiQ9Y3E5
MaxQBiQ9Y3E5
PaxDbiQ9Y3E5
PeptideAtlasiQ9Y3E5
PRIDEiQ9Y3E5
ProteomicsDBi86030
TopDownProteomicsiQ9Y3E5

Protocols and materials databases

DNASUi51651
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000393038; ENSP00000376758; ENSG00000141378
ENST00000470557; ENSP00000464327; ENSG00000141378
GeneIDi51651
KEGGihsa:51651
UCSCiuc002ixt.4 human

Organism-specific databases

CTDi51651
DisGeNETi51651
EuPathDBiHostDB:ENSG00000141378.14
GeneCardsiPTRH2
HGNCiHGNC:24265 PTRH2
HPAiHPA012897
MalaCardsiPTRH2
MIMi608625 gene
616263 phenotype
neXtProtiNX_Q9Y3E5
OpenTargetsiENSG00000141378
Orphaneti456312 Infantile multisystem neurologic-endocrine-pancreatic disease
PharmGKBiPA143485586
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3282 Eukaryota
COG1990 LUCA
GeneTreeiENSGT00390000015991
HOGENOMiHOG000227349
HOVERGENiHBG049458
InParanoidiQ9Y3E5
KOiK04794
OMAiKQVIVVR
PhylomeDBiQ9Y3E5
TreeFamiTF324583

Enzyme and pathway databases

BRENDAi3.1.1.29 2681
ReactomeiR-HSA-5689880 Ub-specific processing proteases
SIGNORiQ9Y3E5

Miscellaneous databases

ChiTaRSiPTRH2 human
EvolutionaryTraceiQ9Y3E5
GenomeRNAii51651
PROiPR:Q9Y3E5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141378 Expressed in 222 organ(s), highest expression level in layer of synovial tissue
CleanExiHS_PTH2
HS_PTRH2
ExpressionAtlasiQ9Y3E5 baseline and differential
GenevisibleiQ9Y3E5 HS

Family and domain databases

CDDicd02430 PTH2, 1 hit
Gene3Di3.40.1490.10, 1 hit
InterProiView protein in InterPro
IPR023476 Pep_tRNA_hydro_II_dom_sf
IPR002833 PTH2
PANTHERiPTHR12649 PTHR12649, 1 hit
PfamiView protein in Pfam
PF01981 PTH2, 1 hit
SUPFAMiSSF102462 SSF102462, 1 hit
TIGRFAMsiTIGR00283 arch_pth2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPTH2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y3E5
Secondary accession number(s): B3KUY4, Q9NTE5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: November 7, 2018
This is version 168 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
  6. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again