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    PTCD3 pentatricopeptide repeat domain 3 [ Homo sapiens (human) ]

    Gene ID: 55037, updated on 15-Apr-2019

    Summary

    Official Symbol
    PTCD3provided by HGNC
    Official Full Name
    pentatricopeptide repeat domain 3provided by HGNC
    Primary source
    HGNC:HGNC:24717
    See related
    Ensembl:ENSG00000132300 MIM:614918
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRP-S39
    Expression
    Ubiquitous expression in testis (RPKM 14.7), heart (RPKM 11.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See PTCD3 in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (86106182..86142157)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (86333305..86369280)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374843 Neighboring gene RNA polymerase I subunit A Neighboring gene conserved acetylation island sequence 34 enhancer Neighboring gene small nucleolar RNA, C/D box 94 Neighboring gene inner membrane mitochondrial protein Neighboring gene microRNA 4779 Neighboring gene mitochondrial ribosomal protein L35

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify pentatricopeptide repeat domain 3 (PTCD3), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify pentatricopeptide repeat domain 3 (PTCD3), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify pentatricopeptide repeat domain 3 (PTCD3), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify pentatricopeptide repeat domain 3 (PTCD3), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Mitochondrial translation, organism-specific biosystem (from REACTOME)
      Mitochondrial translation, organism-specific biosystemOf the roughly 1000 human mitochondrial proteins only 13 proteins, all of them hydrophobic inner membrane proteins that are components of the oxidative phosphorylation apparatus, are encoded in the m...
    • Mitochondrial translation elongation, organism-specific biosystem (from REACTOME)
      Mitochondrial translation elongation, organism-specific biosystemTranslation elongation proceeds by cycles of aminoacyl-tRNAs binding, peptide bond formation, and displacement of deacylated tRNAs (reviewed in Christian and Spremulli 2012). In each cycle an aminoac...
    • Mitochondrial translation initiation, organism-specific biosystem (from REACTOME)
      Mitochondrial translation initiation, organism-specific biosystemTranslation initiates with the mitochondrial mRNA binding the 28S subunit:MTIF3 (28S subunit:IF-3Mt, 28S subunit:IF3mt) complex together with MTIF2:GTP (IF-2Mt:GTP, IF2mt:GTP) (reviewed in Christian ...
    • Mitochondrial translation termination, organism-specific biosystem (from REACTOME)
      Mitochondrial translation termination, organism-specific biosystemTranslation is terminated when MTRF1L:GTP (MTRF1a:GTP) recognizes a UAA or UAG termination codon in the mRNA at the A site of the ribosome (Soleimanpour-Lichaei et al. 2007, reviewed in Richter et al...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20758, DKFZp666K071

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    rRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ribosomal small subunit binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    mitochondrial translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrial translational elongation TAS
    Traceable Author Statement
    more info
     
    mitochondrial translational termination TAS
    Traceable Author Statement
    more info
     
    regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    ribosome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pentatricopeptide repeat domain-containing protein 3, mitochondrial
    Names
    28S ribosomal protein S39, mitochondrial
    TRG-15
    mitochondrial small ribosomal subunit protein mS39
    pentatricopeptide repeat-containing protein 3, mitochondrial
    transformation-related gene 15 protein

    NCBI Reference Sequences (RefSeq)

    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_017952.6NP_060422.4  pentatricopeptide repeat domain-containing protein 3, mitochondrial precursor

      See identical proteins and their annotated locations for NP_060422.4

      Status: VALIDATED

      Source sequence(s)
      AC009309, BC011832, BQ574414, DA479719
      Consensus CDS
      CCDS33235.1
      UniProtKB/Swiss-Prot
      Q96EY7
      Related
      ENSP00000254630.7, ENST00000254630.12
      Conserved Domains (3) summary
      sd00004
      Location:258285
      PPR; PPR repeat [structural motif]
      pfam13041
      Location:254300
      PPR_2; PPR repeat family
      pfam13812
      Location:332367
      PPR_3; Pentatricopeptide repeat domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      86106182..86142157
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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