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Aliases for PTCD1 Gene

Aliases for PTCD1 Gene

  • Pentatricopeptide Repeat Domain 1 2 3
  • KIAA0632 4 6

External Ids for PTCD1 Gene

Previous GeneCards Identifiers for PTCD1 Gene

  • GC07M098626
  • GC07M098659
  • GC07M098852
  • GC07M099014
  • GC07M093652

Summaries for PTCD1 Gene

GeneCards Summary for PTCD1 Gene

PTCD1 (Pentatricopeptide Repeat Domain 1) is a Protein Coding gene. GO annotations related to this gene include 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 Entrez Gene Summary , 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PTCD1 Gene

Start:
99,416,739 bp from pter
End:
99,466,163 bp from pter
Size:
49,425 bases
Orientation:
Minus strand

Genomic View for PTCD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    O75127-PTCD1_HUMAN
    Recommended name:
    Pentatricopeptide repeat-containing protein 1, mitochondrial
    Protein Accession:
    O75127
    Secondary Accessions:
    • Q3ZB78
    • Q66K60
    • Q9UDV2

    Protein attributes for PTCD1 Gene

    Size:
    700 amino acids
    Molecular mass:
    78856 Da
    Quaternary structure:
    • Associates with mitochondrial leucine tRNAs. Interacts with ELAC2.
    SequenceCaution:
    • 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 Lys241, Lys659, and Lys676
  • Modification sites at PhosphoSitePlus

Other Protein References for PTCD1 Gene

No data available for DME Specific Peptides for PTCD1 Gene

Domains for PTCD1 Gene

Protein Domains for PTCD1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75127

UniProtKB/Swiss-Prot:

PTCD1_HUMAN :
  • O75127
Family:
  • Belongs to the PTCD1 family.
Similarity:
  • 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:0000049 tRNA binding IDA 19651879
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with PTCD1: view

Animal Model Products

CRISPR Products

miRNA for PTCD1 Gene

miRTarBase miRNAs that target PTCD1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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

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

Gene Ontology (GO) - Cellular Components for PTCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 19651879
GO:0005759 mitochondrial matrix ISS --
genes like me logo Genes that share ontologies with PTCD1: view

Pathways for PTCD1 Gene

SuperPathways for PTCD1 Gene

No Data Available

Interacting Proteins for PTCD1 Gene

Gene Ontology (GO) - Biological Process for PTCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042780 tRNA 3-end processing IDA 21857155
genes like me logo Genes that share ontologies with PTCD1: view

No data available for Pathways by source for PTCD1 Gene

Transcripts for PTCD1 Gene

Unigene Clusters for PTCD1 Gene

Pentatricopeptide repeat domain 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTCD1

Primer Products

Flow Cytometry Products

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: -
SP3:

Relevant External Links for PTCD1 Gene

GeneLoc Exon Structure for
PTCD1
ECgene alternative splicing isoforms for
PTCD1

Expression for PTCD1 Gene

mRNA expression in normal human tissues for PTCD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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

O75127-PTCD1_HUMAN
Tissue specificity: Abundant in testes, skeletal muscle and heart.
genes like me logo Genes that share expressions with PTCD1: view

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
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 36
  • 78 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ptcd1 36
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 57 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 46 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 36
  • 55 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 53 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ptcd1 36
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4611 36
  • 26 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PTCD1 (if available)
TreeFam:
Gene Tree for PTCD1 (if available)

Paralogs for PTCD1 Gene

Paralogs for PTCD1 Gene

Selected 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 MAF
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

Relevant External Links for PTCD1 Gene

HapMap Linkage Disequilibrium report
PTCD1
Human Gene Mutation Database (HGMD)
PTCD1

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)
PTCD1
genes like me logo Genes that share disorders with PTCD1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 3 4
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. RNA processing in human mitochondria. (PMID: 21857155) Sanchez M.I. … Filipovska A. (Cell Cycle 2011) 3 4

Products for PTCD1 Gene

Sources for PTCD1 Gene

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