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

Gene ID: 391356, updated on 23-Nov-2021

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
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
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
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Genomic context

See PTRHD1 in Genome Data Viewer
Location:
2p23.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (24789728..24793391, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (25012597..25016260, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene nuclear receptor coactivator 1 Neighboring gene RNA, 5S ribosomal pseudogene 88 Neighboring gene RNA, U6 small nuclear 936, pseudogene Neighboring gene uncharacterized LOC105369164 Neighboring gene uncharacterized LOC105377626 Neighboring gene Sharpr-MPRA regulatory region 9030 Neighboring gene centromere protein O Neighboring gene adenylate cyclase 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C27 Neighboring gene ribosomal protein S13 pseudogene 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 

General protein information

Preferred Names
putative peptidyl-tRNA hydrolase PTRHD1
Names
peptidyl-tRNA hydrolase domain-containing protein 1
NP_001013685.1

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

  1. NG_054752.1 RefSeqGene

    Range
    5001..8116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001013663.2NP_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:25139
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    24789728..24793391 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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