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Aliases for PTCD1 Gene

Aliases for PTCD1 Gene

  • Pentatricopeptide Repeat Domain 1 2 3 5
  • KIAA0632 4

External Ids for PTCD1 Gene

Previous GeneCards Identifiers for PTCD1 Gene

  • GC07M098626
  • GC07M098659
  • GC07M098852
  • GC07M099014
  • GC07M093652

Summaries for PTCD1 Gene

Entrez Gene Summary for PTCD1 Gene

  • This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene. [provided by RefSeq, Aug 2015]

GeneCards Summary for PTCD1 Gene

PTCD1 (Pentatricopeptide Repeat Domain 1) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding and tRNA binding. An important paralog of this gene is ATP5J2-PTCD1.

UniProtKB/Swiss-Prot for PTCD1 Gene

  • Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Affects also the 3-processing of mitochondrial tRNAs.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTCD1 Gene

Genomics for PTCD1 Gene

Regulatory Elements for PTCD1 Gene

Promoters for PTCD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PTCD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PTCD1 Gene

99,416,739 bp from pter
99,466,163 bp from pter
49,425 bases
Minus strand

Genomic View for PTCD1 Gene

Genes around PTCD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTCD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTCD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTCD1 Gene

Proteins for PTCD1 Gene

  • Protein details for PTCD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pentatricopeptide repeat-containing protein 1, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q3ZB78
    • Q66K60
    • Q9UDV2

    Protein attributes for PTCD1 Gene

    700 amino acids
    Molecular mass:
    78856 Da
    Quaternary structure:
    • Associates with mitochondrial leucine tRNAs. Interacts with ELAC2.
    • Sequence=BAA31607.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for PTCD1 Gene

Proteomics data for PTCD1 Gene at MOPED

Post-translational modifications for PTCD1 Gene

  • Ubiquitination at Lys 241, Lys 659, and Lys 676
  • Modification sites at PhosphoSitePlus

Other Protein References for PTCD1 Gene

No data available for DME Specific Peptides for PTCD1 Gene

Domains & Families for PTCD1 Gene

Protein Domains for PTCD1 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PTCD1 family.
  • Contains 9 PPR (pentatricopeptide) repeats.
  • Belongs to the PTCD1 family.
  • Contains 9 PPR (pentatricopeptide) repeats.
genes like me logo Genes that share domains with PTCD1: view

No data available for Gene Families for PTCD1 Gene

Function for PTCD1 Gene

Molecular function for PTCD1 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Affects also the 3-processing of mitochondrial tRNAs.

Gene Ontology (GO) - Molecular Function for PTCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with PTCD1: view
genes like me logo Genes that share phenotypes with PTCD1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PTCD1 Gene

Localization for PTCD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTCD1 Gene

Mitochondrion. Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for PTCD1 Gene COMPARTMENTS Subcellular localization image for PTCD1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for PTCD1 Gene

Pathways & Interactions for PTCD1 Gene

SuperPathways for PTCD1 Gene

No Data Available

Interacting Proteins for PTCD1 Gene

Gene Ontology (GO) - Biological Process for PTCD1 Gene


No data available for Pathways by source and SIGNOR curated interactions for PTCD1 Gene

Drugs & Compounds for PTCD1 Gene

No Compound Related Data Available

Transcripts for PTCD1 Gene

Unigene Clusters for PTCD1 Gene

Pentatricopeptide repeat domain 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PTCD1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: - -
SP2: -

Relevant External Links for PTCD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PTCD1 Gene

mRNA expression in normal human tissues for PTCD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTCD1 Gene

This gene is overexpressed in Lung (39.2), Adrenal (11.3), and Bone (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PTCD1 Gene

SOURCE GeneReport for Unigene cluster for PTCD1 Gene Hs.632313

mRNA Expression by UniProt/SwissProt for PTCD1 Gene

Tissue specificity: Abundant in testes, skeletal muscle and heart.
genes like me logo Genes that share expression patterns with PTCD1: view

Protein tissue co-expression partners for PTCD1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PTCD1 Gene

Orthologs for PTCD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTCD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia -- 36
  • 78 (a)
(Canis familiaris)
Mammalia -- 36
  • 76 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 57 (a)
(Mus musculus)
Mammalia Ptcd1 36
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 46 (a)
(Pan troglodytes)
Mammalia -- 36
  • 99 (a)
(Gallus gallus)
Aves -- 36
  • 55 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 53 (a)
(Danio rerio)
Actinopterygii ptcd1 36
  • 45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4611 36
  • 26 (a)
Species with no ortholog for PTCD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PTCD1 Gene

Gene Tree for PTCD1 (if available)
Gene Tree for PTCD1 (if available)

Paralogs for PTCD1 Gene

Paralogs for PTCD1 Gene

(1) SIMAP similar genes for PTCD1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PTCD1: view

Variants for PTCD1 Gene

Sequence variations from dbSNP and Humsavar for PTCD1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_052936 -
VAR_052937 -

Structural Variations from Database of Genomic Variants (DGV) for PTCD1 Gene

Variant ID Type Subtype PubMed ID
nsv831069 CNV Loss 17160897
nsv5864 CNV Insertion 18451855
dgv7396n71 CNV Loss 21882294
dgv7397n71 CNV Loss 21882294
esv2734882 CNV Deletion 23290073

Variation tolerance for PTCD1 Gene

Residual Variation Intolerance Score: 90.5% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTCD1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTCD1 Gene

Disorders for PTCD1 Gene

Relevant External Links for PTCD1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for PTCD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PTCD1 Gene

Publications for PTCD1 Gene

  1. Pentatricopeptide repeat domain protein 1 lowers the levels of mitochondrial leucine tRNAs in cells. (PMID: 19651879) Rackham O. … Filipovska A. (Nucleic Acids Res. 2009) 3 4 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation. (PMID: 24710704) Schild C. … Nuoffer J.M. (Amino Acids 2014) 3
  4. TRIM65 regulates microRNA activity by ubiquitination of TNRC6. (PMID: 24778252) Li S. … Dorf M.E. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  5. A systems-wide screen identifies substrates of the SCFI^TrCP ubiquitin ligase. (PMID: 25515538) Low T.Y. … Heck A.J. (Sci Signal 2014) 3

Products for PTCD1 Gene

Sources for PTCD1 Gene

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