Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	391356
Gene name	Peptidyl-tRNA hydrolase domain containing 1
Gene symbol	PTRHD1
Synonyms (NCBI Gene)	C2orf79NEDPBA
Chromosome	2
Chromosome location	2p23.3
Summary	This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism. [provided b

Show/Hide all (80)

miRTarBase ID	miRNA	Experiments
MIRT2081361	hsa-miR-1	CLIP-seq
MIRT2081362	hsa-miR-1293	CLIP-seq
MIRT2081363	hsa-miR-1322	CLIP-seq
MIRT2081364	hsa-miR-206	CLIP-seq
MIRT2081365	hsa-miR-218	CLIP-seq
MIRT2081366	hsa-miR-2276	CLIP-seq
MIRT2081367	hsa-miR-3117-5p	CLIP-seq
MIRT2081368	hsa-miR-3193	CLIP-seq
MIRT2081369	hsa-miR-3673	CLIP-seq
MIRT2081370	hsa-miR-4272	CLIP-seq
MIRT2081371	hsa-miR-4483	CLIP-seq
MIRT2081372	hsa-miR-4506	CLIP-seq
MIRT2081373	hsa-miR-4517	CLIP-seq
MIRT2081374	hsa-miR-4643	CLIP-seq
MIRT2081375	hsa-miR-4708-3p	CLIP-seq
MIRT2081376	hsa-miR-4720-3p	CLIP-seq
MIRT2081377	hsa-miR-4804-3p	CLIP-seq
MIRT2081378	hsa-miR-613	CLIP-seq
MIRT2081379	hsa-miR-636	CLIP-seq
MIRT2081361	hsa-miR-1	CLIP-seq
MIRT2081362	hsa-miR-1293	CLIP-seq
MIRT2081363	hsa-miR-1322	CLIP-seq
MIRT2081364	hsa-miR-206	CLIP-seq
MIRT2081366	hsa-miR-2276	CLIP-seq
MIRT2081367	hsa-miR-3117-5p	CLIP-seq
MIRT2081368	hsa-miR-3193	CLIP-seq
MIRT2307426	hsa-miR-330-3p	CLIP-seq
MIRT2081369	hsa-miR-3673	CLIP-seq
MIRT2081370	hsa-miR-4272	CLIP-seq
MIRT2081371	hsa-miR-4483	CLIP-seq
MIRT2081372	hsa-miR-4506	CLIP-seq
MIRT2081374	hsa-miR-4643	CLIP-seq
MIRT2081375	hsa-miR-4708-3p	CLIP-seq
MIRT2081378	hsa-miR-613	CLIP-seq
MIRT2081361	hsa-miR-1	CLIP-seq
MIRT2081362	hsa-miR-1293	CLIP-seq
MIRT2081363	hsa-miR-1322	CLIP-seq
MIRT2081364	hsa-miR-206	CLIP-seq
MIRT2081366	hsa-miR-2276	CLIP-seq
MIRT2081367	hsa-miR-3117-5p	CLIP-seq
MIRT2081368	hsa-miR-3193	CLIP-seq
MIRT2081369	hsa-miR-3673	CLIP-seq
MIRT2081371	hsa-miR-4483	CLIP-seq
MIRT2081372	hsa-miR-4506	CLIP-seq
MIRT2081374	hsa-miR-4643	CLIP-seq
MIRT2081375	hsa-miR-4708-3p	CLIP-seq
MIRT2081378	hsa-miR-613	CLIP-seq
MIRT2081361	hsa-miR-1	CLIP-seq
MIRT2081362	hsa-miR-1293	CLIP-seq
MIRT2081363	hsa-miR-1322	CLIP-seq
MIRT2604963	hsa-miR-15a	CLIP-seq
MIRT2604964	hsa-miR-15b	CLIP-seq
MIRT2604965	hsa-miR-16	CLIP-seq
MIRT2604966	hsa-miR-195	CLIP-seq
MIRT2081364	hsa-miR-206	CLIP-seq
MIRT2081366	hsa-miR-2276	CLIP-seq
MIRT2081367	hsa-miR-3117-5p	CLIP-seq
MIRT2081368	hsa-miR-3193	CLIP-seq
MIRT2307426	hsa-miR-330-3p	CLIP-seq
MIRT2081369	hsa-miR-3673	CLIP-seq
MIRT2604967	hsa-miR-424	CLIP-seq
MIRT2081370	hsa-miR-4272	CLIP-seq
MIRT2081371	hsa-miR-4483	CLIP-seq
MIRT2081372	hsa-miR-4506	CLIP-seq
MIRT2081374	hsa-miR-4643	CLIP-seq
MIRT2081375	hsa-miR-4708-3p	CLIP-seq
MIRT2604968	hsa-miR-497	CLIP-seq
MIRT2081378	hsa-miR-613	CLIP-seq
MIRT2081361	hsa-miR-1	CLIP-seq
MIRT2081362	hsa-miR-1293	CLIP-seq
MIRT2081363	hsa-miR-1322	CLIP-seq
MIRT2081364	hsa-miR-206	CLIP-seq
MIRT2081366	hsa-miR-2276	CLIP-seq
MIRT2081367	hsa-miR-3117-5p	CLIP-seq
MIRT2081369	hsa-miR-3673	CLIP-seq
MIRT2081371	hsa-miR-4483	CLIP-seq
MIRT2081372	hsa-miR-4506	CLIP-seq
MIRT2081374	hsa-miR-4643	CLIP-seq
MIRT2081375	hsa-miR-4708-3p	CLIP-seq
MIRT2081378	hsa-miR-613	CLIP-seq

Show/Hide all (4)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004045	Function	Peptidyl-tRNA hydrolase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0016787	Function	Hydrolase activity	IEA

MIM	HGNC	e!Ensembl
617342	33782	ENSG00000184924

Q6GMV3

Protein name

Putative peptidyl-tRNA hydrolase PTRHD1 (EC 3.1.1.29) (Peptidyl-tRNA hydrolase domain-containing protein 1)

Protein function

As a putative peptidyl-tRNA hydrolase, it might be involved in releasing tRNAs from the ribosome during protein synthesis (Probable). Some evidence, however, suggests that it lacks peptidyl-tRNA hydrolase activity (PubMed:27235175). {ECO:0000269

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01981	PTH2	25 → 139	Peptidyl-tRNA hydrolase PTH2	Family

Sequence

MHRGVGPAFRVVRKMAASGAEPQVLVQYLVLRKDLSQAPFSWPAGALVAQACHAATAALH
THRDHPHTAAYLQELGRMRKVVLEAPDETTLKELAETLQQKNIDHMLWLEQPENIATCIA
LRPYPKEEVGQYLKKFRLFK

Sequence length

140

Interactions

View interactions

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities	Likely pathogenic; Pathogenic	rs553276736, rs753386543, rs781442277, rs1057519631	RCV003985006 RCV003985007 RCV003984835 RCV003984836	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinsonian disorder	Pathogenic	rs781442277	RCV002468575	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTRHD1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cognition Disorders	Cognition disorder	Pubtator	27753167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27753167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27753167, 30398675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27753167, 34816696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	29143421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 1	Intellectual developmental disorder	Pubtator	34246528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	30398675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	27753167, 34246528, 34816696, 35848037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	27753167, 30398675		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	GENOMICS_ENGLAND_DG	29143421		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PTRHD1 (peptidyl-tRNA hydrolase domain containing 1)