PTRHD1 peptidyl-tRNA hydrolase domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTRHD1provided by HGNC
Official Full Name: peptidyl-tRNA hydrolase domain containing 1provided by HGNC
Primary source: HGNC:HGNC:33782
See related: Ensembl:ENSG00000184924 MIM:617342; AllianceGenome:HGNC:33782
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NEDPBA; C2orf79
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 by RefSeq, May 2017]
Expression: Ubiquitous expression in colon (RPKM 17.4), testis (RPKM 17.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (24789728..24793391, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (24824528..24828191, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (25012597..25016260, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the Chinese Population.
Title: Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the Chinese Population.
Analysis of PTRHD1 common and rare variants in European patients with Parkinson's disease.
Title: Analysis of PTRHD1 common and rare variants in European patients with Parkinson's disease.
Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson's disease in a Taiwanese population.
Title: Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson's disease in a Taiwanese population.
PTRHD1 mutation leads to intellectual disability and parkinsonism in a consanguineous family.
Title: PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities MedGen: C5935590 OMIM: 620747 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH94260 (e-PCR)
- UniSTS:86289

RH99049 (e-PCR)
- UniSTS:84122

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aminoacyl-tRNA hydrolase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: putative peptidyl-tRNA hydrolase PTRHD1

Names: peptidyl-tRNA hydrolase domain-containing protein 1

NP_001013685.1

EC 3.1.1.29

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_054752.1 RefSeqGene

Range

4992..8655

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001013663.2 → NP_001013685.1 putative peptidyl-tRNA hydrolase PTRHD1

See identical proteins and their annotated locations for NP_001013685.1

Status: REVIEWED

Source sequence(s)

AC013459

Consensus CDS

CCDS33156.1

UniProtKB/Swiss-Prot

Q6GMV3

Related

ENSP00000330389.4, ENST00000328379.6

Conserved Domains (1) summary

cl19212
Location:25 → 139

PTH2_family; Peptidyl-tRNA hydrolase, type 2 (PTH2)_like . Peptidyl-tRNA hydrolase activity releases tRNA from the premature translation termination product peptidyl-tRNA. Two structurally different enzymes have been reported to encode such activity, Pth present in ...