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    Ptcd1 pentatricopeptide repeat domain 1 [ Mus musculus (house mouse) ]

    Gene ID: 71799, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ptcd1provided by MGI
    Official Full Name
    pentatricopeptide repeat domain 1provided by MGI
    Primary source
    MGI:MGI:1919049
    See related
    Ensembl:ENSMUSG00000029624 AllianceGenome:MGI:1919049
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1110069M14Rik
    Summary
    Predicted to enable tRNA binding activity. Involved in mitochondrial translation. Predicted to be located in mitochondrion. Predicted to be active in mitochondrial matrix. Is expressed in central nervous system and sensory organ. Orthologous to several human genes including PTCD1 (pentatricopeptide repeat domain 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 10.1), ovary adult (RPKM 8.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ptcd1 in Genome Data Viewer
    Location:
    5 G2; 5 85.06 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (145084188..145103914, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (145147378..145167104, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:145877013-145877196 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:145877310-145877463 Neighboring gene STARR-positive B cell enhancer ABC_E11730 Neighboring gene actin related protein 2/3 complex, subunit 1B Neighboring gene PDGFA associated protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E8091 Neighboring gene BUD31 homolog Neighboring gene STARR-positive B cell enhancer ABC_E6397 Neighboring gene cleavage and polyadenylation specific factor 4 Neighboring gene ATP synthase membrane subunit f

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Adult-onset obesity is triggered by impaired mitochondrial gene expression. Perks KL, et al. Sci Adv, 2017 Aug. PMID 28835921, Free PMC Article
    2. PTCD1 Is Required for 16S rRNA Maturation Complex Stability and Mitochondrial Ribosome Assembly. Perks KL, et al. Cell Rep, 2018 Apr 3. PMID 29617655
    3. Mitochondrial gene expression is required for platelet function and blood clotting. Richman TR, et al. Cell Rep, 2023 Nov 28. PMID 37889747
    4. A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain. McKee AE, et al. BMC Dev Biol, 2005 Jul 20. PMID 16033648, Free PMC Article
    5. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PTCD1 is essential for 16s rRNA maturation complex stability and mitochondrial ribosome assembly.
      Title: PTCD1 Is Required for 16S rRNA Maturation Complex Stability and Mitochondrial Ribosome Assembly.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1)  1 citation
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC102367

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables tRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tRNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables tRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial translation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in tRNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tRNA 3'-end processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    pentatricopeptide repeat-containing protein 1, mitochondrial

    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.

    mRNA and Protein(s)

    1. NM_133735.2 → NP_598496.3  pentatricopeptide repeat-containing protein 1, mitochondrial

      See identical proteins and their annotated locations for NP_598496.3

      Status: VALIDATED

      Source sequence(s)
      AC127411, BC083097
      Consensus CDS
      CCDS19858.1
      UniProtKB/Swiss-Prot
      Q3TB29, Q5XK29, Q8C2E4, Q99KB2
      UniProtKB/TrEMBL
      Q3UCI6
      Related
      ENSMUSP00000031628.10, ENSMUST00000031628.10
      Conserved Domains (3) summary
      TIGR00756
      Location:174 → 206
      PPR; pentatricopeptide repeat domain (PPR motif)
      sd00004
      Location:174 → 200
      PPR; PPR repeat [structural motif]
      pfam13041
      Location:551 → 594
      PPR_2; PPR repeat family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      145084188..145103914 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011241013.4 → XP_011239315.1  pentatricopeptide repeat-containing protein 1, mitochondrial isoform X1

      Conserved Domains (3) summary
      PLN03218
      Location:125 → 331
      PLN03218; maturation of RBCL 1; Provisional
      sd00004
      Location:174 → 200
      PPR; PPR repeat [structural motif]
      pfam13041
      Location:174 → 217
      PPR_2; PPR repeat family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C2E4.2 GenPept UniProtKB/Swiss-Prot:Q8C2E4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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