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    Mtpap mitochondrial poly(A) polymerase [ Mus musculus (house mouse) ]

    Gene ID: 67440, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Mtpapprovided by MGI
    Official Full Name
    mitochondrial poly(A) polymeraseprovided by MGI
    Primary source
    MGI:MGI:1914690
    See related
    Ensembl:ENSMUSG00000024234 AllianceGenome:MGI:1914690
    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
    Papd1; Tent6; 0610027A18Rik
    Summary
    Predicted to enable several functions, including metal ion binding activity; protein homodimerization activity; and ribonucleotide binding activity. Predicted to be involved in histone mRNA catabolic process and mRNA polyadenylation. Predicted to act upstream of or within mRNA processing. Located in mitochondrion. Is expressed in several structures, including early conceptus; liver lobe; and oocyte. Human ortholog(s) of this gene implicated in spastic ataxia 4. Orthologous to human MTPAP (mitochondrial poly(A) polymerase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 4.5), whole brain E14.5 (RPKM 4.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mtpap in Genome Data Viewer
    Location:
    18 A1; 18 2.77 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (4375573..4399888)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (4375589..4399888)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase 8 Neighboring gene RIKEN cDNA 4833419F23 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:4375540-4375727 Neighboring gene STARR-seq mESC enhancer starr_43677 Neighboring gene STARR-seq mESC enhancer starr_43679 Neighboring gene predicted gene, 52359 Neighboring gene protein arginine N-methyltransferase 8 pseudogene

    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. Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation. Cheong A, et al. Development, 2020 May 26. PMID 32376682, Free PMC Article
    2. ATG5 is required for B cell polarization and presentation of particulate antigens. Arbogast F, et al. Autophagy, 2019 Feb. PMID 30196744, Free PMC Article
    3. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    4. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    5. ALS-linked loss of Cyclin-F function affects HSP90. Siebert A, et al. Life Sci Alliance, 2022 Sep 16. PMID 36114006, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UTP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables magnesium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables manganese ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables poly(A) RNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables poly(A) RNA polymerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in histone mRNA catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial RNA 3'-end processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    poly(A) RNA polymerase, mitochondrial
    Names
    PAP associated domain containing 1
    PAP-associated domain-containing protein 1
    polynucleotide adenylyltransferase
    NP_001347937.1
    NP_001347938.1
    NP_080433.1
    XP_006526247.1

    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_001361008.2 → NP_001347937.1  poly(A) RNA polymerase, mitochondrial isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC138768, AEKQ02123947
      UniProtKB/TrEMBL
      A0A3Q4L2Q3
      Conserved Domains (2) summary
      cd05402
      Location:28 → 99
      NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
      COG5260
      Location:57 → 248
      TRF4; DNA polymerase sigma [Replication, recombination and repair]

    2. NM_001361009.2 → NP_001347938.1  poly(A) RNA polymerase, mitochondrial isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC138768, AEKQ02123947
      UniProtKB/TrEMBL
      A0A3Q4L2Q3
      Conserved Domains (2) summary
      cd05402
      Location:28 → 99
      NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
      COG5260
      Location:57 → 248
      TRF4; DNA polymerase sigma [Replication, recombination and repair]

    3. NM_026157.4 → NP_080433.1  poly(A) RNA polymerase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_080433.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC138768, AEKQ02123947
      Consensus CDS
      CCDS37718.1
      UniProtKB/Swiss-Prot
      Q3UXJ1, Q8C651, Q9D0D3
      Related
      ENSMUSP00000025077.7, ENSMUST00000025077.7
      Conserved Domains (2) summary
      cd05402
      Location:209 → 347
      NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
      pfam03828
      Location:441 → 486
      PAP_assoc; Cid1 family poly A polymerase

    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_000084.7 Reference GRCm39 C57BL/6J

      Range
      4375573..4399888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526184.5 → XP_006526247.1  poly(A) RNA polymerase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006526247.1

      UniProtKB/TrEMBL
      A0A3Q4L2Q3
      Conserved Domains (2) summary
      cd05402
      Location:28 → 99
      NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
      COG5260
      Location:57 → 248
      TRF4; DNA polymerase sigma [Replication, recombination and repair]

    RNA

    1. XR_004939877.1 RNA Sequence

    2. XR_004939879.1 RNA Sequence

    3. XR_004939881.1 RNA Sequence

    4. XR_004939882.1 RNA Sequence

    5. XR_004939880.1 RNA Sequence

    6. XR_004939878.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D0D3.1 GenPept UniProtKB/Swiss-Prot:Q9D0D3

    Gene LinkOut

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

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