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    MTPAP mitochondrial poly(A) polymerase [ Homo sapiens (human) ]

    Gene ID: 55149, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MTPAPprovided by HGNC
    Official Full Name
    mitochondrial poly(A) polymeraseprovided by HGNC
    Primary source
    HGNC:HGNC:25532
    See related
    Ensembl:ENSG00000107951 MIM:613669; AllianceGenome:HGNC:25532
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAPD1; SPAX4; TENT6
    Summary
    The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.8), testis (RPKM 4.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTPAP in Genome Data Viewer
    Location:
    10p11.23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (30309801..30349278, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (30340827..30380279, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (30598730..30638207, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 598, pseudogene Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 39 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:30636687-30637187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:30648605-30649209 Neighboring gene dynamin 1 pseudogene 17 Neighboring gene GOLGA2 pseudogene 6 Neighboring gene RNA, 7SL, cytoplasmic 241, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy. Van Eyck L, et al. Neuropediatrics, 2020 Jun. PMID 31779033
    2. Sequencing and association analysis of the type 1 diabetes-linked region on chromosome 10p12-q11. Nejentsev S, et al. BMC Genet, 2007 May 17. PMID 17509149, Free PMC Article
    3. Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks. Martin NT, et al. Cell Death Dis, 2014 Mar 20. PMID 24651433, Free PMC Article
    4. A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression. Wilson WC, et al. Hum Mol Genet, 2014 Dec 1. PMID 25008111, Free PMC Article
    5. Identification of a novel human nuclear-encoded mitochondrial poly(A) polymerase. Tomecki R, et al. Nucleic Acids Res, 2004. PMID 15547249, Free PMC Article

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. USP4 regulates TUT1 ubiquitination status in concert with SART3.
      Title: USP4 regulates TUT1 ubiquitination status in concert with SART3.
    2. Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
      Title: Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
    3. These results indicate that NDP52 and MTPAP form an autophagy receptor complex, which enhances autophagic elimination of damaged mitochondria.
      Title: NDP52 interacts with mitochondrial RNA poly(A) polymerase to promote mitophagy.
    4. Mitochondrial poly(A) polymerase is able to add the discriminator adenosine to tRNATyr.
      Title: Mitochondrial poly(A) polymerase is involved in tRNA repair.
    5. The polymerase activity of mtPAP is modulated by LRPPRC/SLIRP; N478D mtPAP mutation decreases its activity and the alteration in poly(A) length causes dysregulation of post-transcriptional expression and lack of respiratory chain complexes.
      Title: A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.
    6. Mutation of the MTPAP gene results in a cellular phenotype of increased DNA damage, reduced repair kinetics, increased cell death by apoptosis, and reduced clonogenic survival after exposure to ionizing radiation.
      Title: Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.
    7. show that dimerization is required for the catalytic activity of PAPD1
      Title: Structural basis for dimerization and activity of human PAPD1, a noncanonical poly(A) polymerase.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. Characterization of this marker shows that it is orthologous to the human gene KIAA1462 located on HSA10p11.23, where a major quantitative trait locus for morbid obesity has been reported.
      Title: A novel nuclear-encoded mitochondrial poly(A) polymerase PAPD1 is a potential candidate gene for the extreme obesity related phenotypes in mammals.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spastic ataxia 4
    MedGen: C3150925 OMIM: 613672 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10486

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables UTP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables manganese ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables poly(A) RNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables poly(A) RNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial RNA 3'-end processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    poly(A) RNA polymerase, mitochondrial
    Names
    PAP-associated domain-containing protein 1
    TUTase 1
    polynucleotide adenylyltransferase
    terminal uridylyltransferase 1
    NP_060579.3

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_028096.1 RefSeqGene

      Range
      5061..44538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018109.4 → NP_060579.3  poly(A) RNA polymerase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_060579.3

      Status: REVIEWED

      Source sequence(s)
      AL161651, AL353796
      Consensus CDS
      CCDS7165.1
      UniProtKB/Swiss-Prot
      D3DRX0, Q659E3, Q6P7E5, Q9HA74, Q9NVV4
      Related
      ENSP00000263063.3, ENST00000263063.9
      Conserved Domains (2) summary
      cd05402
      Location:206 → 344
      NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
      pfam03828
      Location:440 → 483
      PAP_assoc; Cid1 family poly A polymerase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      30309801..30349278 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      30340827..30380279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVV4.1 GenPept UniProtKB/Swiss-Prot:Q9NVV4

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
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