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] See more...

Aliases for PTRHD1 Gene

Aliases for PTRHD1 Gene

  • Peptidyl-TRNA Hydrolase Domain Containing 1 2 3 5
  • Peptidyl-TRNA Hydrolase Domain-Containing Protein 1 3 4
  • Putative Peptidyl-TRNA Hydrolase PTRHD1 3 4
  • C2orf79 3 4
  • Chromosome 2 Open Reading Frame 79 2
  • EC 4

External Ids for PTRHD1 Gene

Previous HGNC Symbols for PTRHD1 Gene

  • C2orf79

Previous GeneCards Identifiers for PTRHD1 Gene

  • GC02M025013

Summaries for PTRHD1 Gene

Entrez Gene Summary for PTRHD1 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 by RefSeq, May 2017]

GeneCards Summary for PTRHD1 Gene

PTRHD1 (Peptidyl-TRNA Hydrolase Domain Containing 1) is a Protein Coding gene. Diseases associated with PTRHD1 include Parkinson Disease, Late-Onset. Gene Ontology (GO) annotations related to this gene include aminoacyl-tRNA hydrolase activity. An important paralog of this gene is ACP1.

Additional gene information for PTRHD1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTRHD1 Gene

Genomics for PTRHD1 Gene

GeneHancer (GH) Regulatory Elements for PTRHD1 Gene

Promoters and enhancers for PTRHD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTRHD1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PTRHD1 Gene

Genomic Locations for PTRHD1 Gene
3,649 bases
Minus strand
3,649 bases
Minus strand

Genomic View for PTRHD1 Gene

Genes around PTRHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTRHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTRHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTRHD1 Gene

Proteins for PTRHD1 Gene

  • Protein details for PTRHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Putative peptidyl-tRNA hydrolase PTRHD1
    Protein Accession:

    Protein attributes for PTRHD1 Gene

    140 amino acids
    Molecular mass:
    15805 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PTRHD1 Gene

Post-translational modifications for PTRHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PTRHD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PTRHD1 Gene

Domains & Families for PTRHD1 Gene

Gene Families for PTRHD1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PTRHD1 Gene

Suggested Antigen Peptide Sequences for PTRHD1 Gene

GenScript: Design optimal peptide antigens:
  • Peptidyl-tRNA hydrolase domain-containing protein 1 (PTRD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PTH2 family. PTRHD1 subfamily.
  • Belongs to the PTH2 family. PTRHD1 subfamily.
genes like me logo Genes that share domains with PTRHD1: view

Function for PTRHD1 Gene

Molecular function for PTRHD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-acyl-L-alpha-aminoacyl-tRNA = an N-acyl-L-amino acid + H(+) + tRNA; Xref=Rhea:RHEA:54448, Rhea:RHEA-COMP:10123, Rhea:RHEA-COMP:13883, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:59874, ChEBI:CHEBI:78442, ChEBI:CHEBI:138191; EC=;.

Enzyme Numbers (IUBMB) for PTRHD1 Gene

Phenotypes From GWAS Catalog for PTRHD1 Gene

Gene Ontology (GO) - Molecular Function for PTRHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004045 aminoacyl-tRNA hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PTRHD1: view

Phenotypes for PTRHD1 Gene

genes like me logo Genes that share phenotypes with PTRHD1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PTRHD1 Gene

Localization for PTRHD1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTRHD1 gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PTRHD1 Gene

Pathways & Interactions for PTRHD1 Gene

PathCards logo

SuperPathways for PTRHD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PTRHD1 Gene


No data available for Pathways by source and SIGNOR curated interactions for PTRHD1 Gene

Drugs & Compounds for PTRHD1 Gene

(1) Drugs for PTRHD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
genes like me logo Genes that share compounds with PTRHD1: view

Transcripts for PTRHD1 Gene

mRNA/cDNA for PTRHD1 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(84) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTRHD1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b
SP1: -
SP2: - - - - -

Relevant External Links for PTRHD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PTRHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTRHD1 Gene

Protein differential expression in normal tissues from HIPED for PTRHD1 Gene

This gene is overexpressed in Lavage (8.5), Skin (7.3), and Adrenal (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTRHD1 Gene

Protein tissue co-expression partners for PTRHD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTRHD1 Gene:


SOURCE GeneReport for Unigene cluster for PTRHD1 Gene:


Evidence on tissue expression from TISSUES for PTRHD1 Gene

  • Liver(4.3)
genes like me logo Genes that share expression patterns with PTRHD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTRHD1 Gene

Orthologs for PTRHD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PTRHD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PTRHD1 33 32
  • 99.76 (n)
(Canis familiaris)
Mammalia PTRHD1 33 32
  • 89.52 (n)
(Bos Taurus)
Mammalia PTRHD1 33 32
  • 89.15 (n)
(Rattus norvegicus)
Mammalia Ptrhd1 32
  • 85.24 (n)
(Mus musculus)
Mammalia Ptrhd1 17 33 32
  • 85 (n)
(Monodelphis domestica)
Mammalia PTRHD1 33
  • 71 (a)
(Gallus gallus)
Aves PTRHD1 33 32
  • 64.75 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ptrhd1 32
  • 64.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29711 32
(Danio rerio)
Actinopterygii ptrhd1 33 32
  • 58.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001796 32
  • 59.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14903 33 32
  • 55.94 (n)
(Caenorhabditis elegans)
Secernentea Y94H6A.12 33 32
  • 52.25 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G10700 32
  • 53.28 (n)
(Oryza sativa)
Liliopsida Os04g0605200 32
  • 60.58 (n)
Species where no ortholog for PTRHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTRHD1 Gene

Gene Tree for PTRHD1 (if available)
Gene Tree for PTRHD1 (if available)
Evolutionary constrained regions (ECRs) for PTRHD1: view image

Paralogs for PTRHD1 Gene

Paralogs for PTRHD1 Gene

genes like me logo Genes that share paralogs with PTRHD1: view

Variants for PTRHD1 Gene

Sequence variations from dbSNP and Humsavar for PTRHD1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1057519631 uncertain-significance, not provided, - 24,793,221(-) G/A coding_sequence_variant, missense_variant
rs781442277 uncertain-significance, not provided, - 24,793,223(-) C/T coding_sequence_variant, missense_variant
rs1000734371 -- 24,792,291(-) A/G intron_variant
rs1000825715 -- 24,792,292(-) T/C intron_variant
rs1001105893 -- 24,792,454(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PTRHD1 Gene

Variant ID Type Subtype PubMed ID
nsv1000020 CNV gain 25217958
nsv1004529 CNV loss 25217958
nsv508831 CNV insertion 20534489
nsv997725 CNV gain 25217958

Variation tolerance for PTRHD1 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTRHD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTRHD1 Gene

Disorders for PTRHD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PTRHD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PTRHD1

genes like me logo Genes that share disorders with PTRHD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTRHD1 Gene

Publications for PTRHD1 Gene

  1. PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism. (PMID: 27753167) Khodadadi H … Paisán-Ruiz C (Movement disorders : official journal of the Movement Disorder Society 2017) 2 3 4 56
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  3. The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. (PMID: 29180619) Kumar R … Vertegaal ACO (Nature communications 2017) 3 56
  4. Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction. (PMID: 27134041) Jaberi E … Elahi E (Movement disorders : official journal of the Movement Disorder Society 2016) 4 56
  5. Expression, purification, and buffer solubility optimization of the putative human peptidyl-tRNA hydrolase PTRHD1. (PMID: 27235175) Burks GL … McFeeters RL (Protein expression and purification 2016) 3 56

Products for PTRHD1 Gene

Sources for PTRHD1 Gene