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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	391356
Gene name Gene Name - the full gene name approved by the HGNC.	Peptidyl-tRNA hydrolase domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PTRHD1
Synonyms (NCBI Gene) Gene synonyms aliases	C2orf79, NEDPBA
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Parkinson disease	Parkinsonian disorder	rs781442277	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Cognition Disorders	Associate	27753167
Intellectual Disability	Associate	27753167, 34816696
Mental Retardation Autosomal Recessive 1	Associate	34246528
Parkinson Disease Familial Type 1	Associate	27753167
Parkinson Disease Secondary	Associate	27753167, 34246528, 34816696, 35848037

PTRHD1 (peptidyl-tRNA hydrolase domain containing 1)