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Protein

Peptidyl-tRNA hydrolase 2, mitochondrial

Gene

PTRH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • negative regulation of anoikis Source: UniProtKB
  • negative regulation of gene expression Source: UniProtKB
  • positive regulation of anoikis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Apoptosis

Enzyme and pathway databases

BioCyciZFISH:HS06818-MONOMER.
BRENDAi3.1.1.29. 2681.
ReactomeiR-HSA-5689880. Ub-specific processing proteases.
SIGNORiQ9Y3E5.

Protein family/group databases

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

HGNCiHGNC:24265. PTRH2.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB
  • membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB
Complete GO annotation...

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 rs730882234dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi51651.
MIMi616263. phenotype.
OpenTargetsiENSG00000141378.
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 PARK2 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.
TopDownProteomicsiQ9Y3E5.

PTM databases

iPTMnetiQ9Y3E5.
PhosphoSitePlusiQ9Y3E5.
SwissPalmiQ9Y3E5.

Expressioni

Gene expression databases

BgeeiENSG00000141378.
CleanExiHS_PTH2.
HS_PTRH2.
ExpressionAtlasiQ9Y3E5. baseline and differential.
GenevisibleiQ9Y3E5. HS.

Organism-specific databases

HPAiHPA012897.

Interactioni

Subunit structurei

Monomer.

Binary interactionsi

WithEntry#Exp.IntActNotes
AESQ081177EBI-1056751,EBI-717810
PTK2Q053972EBI-1056751,EBI-702142

Protein-protein interaction databases

BioGridi119659. 40 interactors.
IntActiQ9Y3E5. 5 interactors.
MINTiMINT-4657346.
STRINGi9606.ENSP00000376758.

Structurei

Secondary structure

1179
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi65 – 72Combined sources8
Helixi73 – 75Combined sources3
Helixi79 – 100Combined sources22
Helixi102 – 110Combined sources9
Beta strandi115 – 122Combined sources8
Helixi123 – 135Combined sources13
Beta strandi140 – 145Combined sources6
Beta strandi147 – 151Combined sources5
Beta strandi153 – 165Combined sources13
Helixi166 – 173Combined sources8

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...

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.
OMAiQVAHGAV.
PhylomeDBiQ9Y3E5.
TreeFamiTF324583.

Family and domain databases

Gene3Di3.40.1490.10. 1 hit.
InterProiIPR023476. Pep_tRNA_hydro_II_dom.
IPR002833. PTH2.
[Graphical view]
PfamiPF01981. PTH2. 1 hit.
[Graphical view]
SUPFAMiSSF102462. SSF102462. 1 hit.
TIGRFAMsiTIGR00283. arch_pth2. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07338685Q → P in IMNEPD. 1 PublicationCorresponds to variant rs730882234dbSNPEnsembl.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.

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. 40 interactors.
IntActiQ9Y3E5. 5 interactors.
MINTiMINT-4657346.
STRINGi9606.ENSP00000376758.

Protein family/group databases

MoonProtiQ9Y3E5.

PTM databases

iPTMnetiQ9Y3E5.
PhosphoSitePlusiQ9Y3E5.
SwissPalmiQ9Y3E5.

Polymorphism and mutation databases

BioMutaiPTRH2.
DMDMi6686183.

Proteomic databases

EPDiQ9Y3E5.
MaxQBiQ9Y3E5.
PaxDbiQ9Y3E5.
PeptideAtlasiQ9Y3E5.
PRIDEiQ9Y3E5.
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.
GeneCardsiPTRH2.
HGNCiHGNC:24265. PTRH2.
HPAiHPA012897.
MIMi608625. gene.
616263. phenotype.
neXtProtiNX_Q9Y3E5.
OpenTargetsiENSG00000141378.
PharmGKBiPA143485586.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3282. Eukaryota.
COG1990. LUCA.
GeneTreeiENSGT00390000015991.
HOGENOMiHOG000227349.
HOVERGENiHBG049458.
InParanoidiQ9Y3E5.
KOiK04794.
OMAiQVAHGAV.
PhylomeDBiQ9Y3E5.
TreeFamiTF324583.

Enzyme and pathway databases

BioCyciZFISH:HS06818-MONOMER.
BRENDAi3.1.1.29. 2681.
ReactomeiR-HSA-5689880. Ub-specific processing proteases.
SIGNORiQ9Y3E5.

Miscellaneous databases

ChiTaRSiPTRH2. human.
EvolutionaryTraceiQ9Y3E5.
GenomeRNAii51651.
PROiQ9Y3E5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141378.
CleanExiHS_PTH2.
HS_PTRH2.
ExpressionAtlasiQ9Y3E5. baseline and differential.
GenevisibleiQ9Y3E5. HS.

Family and domain databases

Gene3Di3.40.1490.10. 1 hit.
InterProiIPR023476. Pep_tRNA_hydro_II_dom.
IPR002833. PTH2.
[Graphical view]
PfamiPF01981. PTH2. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: November 2, 2016
This is version 154 of the entry and version 1 of the sequence. [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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
  7. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.