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

    Gene ID: 55149, updated on 4-Jan-2025

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    Interactions

    General gene information

    Clone Names

    • FLJ10486

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in RNA 3'-end processing  
    involved_in histone mRNA catabolic process PubMed 
    involved_in mRNA processing  
    involved_in mitochondrial RNA 3'-end processing PubMed 
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle  
    located_in mitochondrion PubMed 
    is_active_in mitochondrion  
    located_in mitochondrion  
    located_in nucleoplasm  

    General protein information

    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)

    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_018109.4NP_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:206344
      NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases
      pfam03828
      Location:440483
      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)
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