PTRH1 (peptidyl-tRNA hydrolase 1 homolog)

Gene

• Entrez ID: 138428
• Gene name: Peptidyl-tRNA hydrolase 1 homolog
• Gene symbol: PTRH1
• Synonyms (NCBI Gene): C9orf115, PTH1
• Chromosome: 9
• Chromosome location: 9q34.11

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005177	hsa-miR-30a-5p	pSILAC	18668040
MIRT005177	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT031393	hsa-miR-16-5p	Proteomics	18668040
MIRT1276689	hsa-miR-128	CLIP-seq
MIRT1276690	hsa-miR-27a	CLIP-seq
MIRT1276691	hsa-miR-27b	CLIP-seq
MIRT1276692	hsa-miR-4286	CLIP-seq
MIRT1276693	hsa-miR-4704-3p	CLIP-seq
MIRT2307412	hsa-miR-132	CLIP-seq
MIRT2307413	hsa-miR-212	CLIP-seq
MIRT2307414	hsa-miR-3125	CLIP-seq
MIRT2307415	hsa-miR-3150b-3p	CLIP-seq
MIRT2307416	hsa-miR-3916	CLIP-seq
MIRT2307417	hsa-miR-4514	CLIP-seq
MIRT2307418	hsa-miR-4692	CLIP-seq
MIRT2307419	hsa-miR-4784	CLIP-seq
MIRT2307420	hsa-miR-518d-5p	CLIP-seq
MIRT2307421	hsa-miR-519b-5p	CLIP-seq
MIRT2307422	hsa-miR-519c-5p	CLIP-seq
MIRT2307423	hsa-miR-520c-5p	CLIP-seq
MIRT2307424	hsa-miR-526a	CLIP-seq
MIRT2307425	hsa-miR-877	CLIP-seq
MIRT2393265	hsa-miR-34a	CLIP-seq
MIRT2393266	hsa-miR-34c-5p	CLIP-seq
MIRT2393267	hsa-miR-3652	CLIP-seq
MIRT2393268	hsa-miR-4430	CLIP-seq
MIRT2393269	hsa-miR-449a	CLIP-seq
MIRT2393270	hsa-miR-449b	CLIP-seq
MIRT2393271	hsa-miR-4505	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0004045	Function	Peptidyl-tRNA hydrolase activity	IBA
GO:0004045	Function	Peptidyl-tRNA hydrolase activity	IDA	30244831
GO:0004045	Function	Peptidyl-tRNA hydrolase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0016787	Function	Hydrolase activity	IEA
GO:0072344	Process	Rescue of stalled ribosome	IDA	30244831

Other IDs

• MIM: 621047
• HGNC: 27039
• e!Ensembl: ENSG00000187024

Protein

• UniProt ID: Q86Y79
• Protein name: Peptidyl-tRNA hydrolase (PTH) (EC 3.1.1.29)
• Protein function: Peptidyl-tRNA hydrolase that cleaves nascent chains-tRNAs that are not stably fixed in the P-site of 60S ribosome-nascent chain complexes (PubMed:30244831). Acts downstream of the ribosome-associated quality control (RQC) pathway to release non-
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01195	Pept_tRNA_hydro	32 → 210	Peptidyl-tRNA hydrolase	Domain

• Sequence:

  MRPGGFLGAGQRLSRAMSRCVLEPRPPGKRWMVAGLGNPGLPGTRHSVGMAVLGQLARRL
  GVAESWTRDRHCAADLALAPLGDAQLVLLRPRRLMNANGRSVARAAELFGLTAEEVYLVH
  DELDKPLGRLALKLGGSARGHNGVRSCISCLNSNAMPRLRVGIGRPAHPEAVQAHVLGCF
  SPAEQELLPLLLDRATDLILDHIRERSQGPSLGP

• Sequence length: 214

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	BEFREE	22634226, 29104492		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	28389324		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28926112		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34169901	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29039525, 29357491		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	30243992		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	25448744		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	29127344		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	30189026		★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	14696768		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	19063686, 21865375, 25891861, 28444664, 28857066, 29099939, 30088838, 30243992, 30390821, 30470382, 30641529, 31291476		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypoparathyroidism	Hypoparathyroidism	BEFREE	25891861		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	2541161		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28935557, 29104492, 30189026		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28238166, 28878134, 29038066, 29548300, 29952553, 29960821, 30088838, 30660035, 31181662		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	29091308		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10375199, 20640570, 21834878, 25043296		★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	30470382		★☆☆☆☆ Found in Text Mining only
PSEUDOHYPOPARATHYROIDISM, TYPE IB	Pseudohypoparathyroidism	BEFREE	25891861		★☆☆☆☆ Found in Text Mining only
Thanatophoric Dysplasia	Thanatophoric Dysplasia	BEFREE	22634226		★☆☆☆☆ Found in Text Mining only
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	BEFREE	22634226		★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	2753981		★☆☆☆☆ Found in Text Mining only