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    TENT4A terminal nucleotidyltransferase 4A [ Homo sapiens (human) ]

    Gene ID: 11044, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TENT4Aprovided by HGNC
    Official Full Name
    terminal nucleotidyltransferase 4Aprovided by HGNC
    Primary source
    HGNC:HGNC:16705
    See related
    Ensembl:ENSG00000112941 MIM:605198; AllianceGenome:HGNC:16705
    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
    LAK1; POLK; POLS; TRF4; LAK-1; PAPD7; TRF41; TRF4-1; TUTASE5
    Summary
    The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010]
    Expression
    Ubiquitous expression in bone marrow (RPKM 5.8), skin (RPKM 5.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TENT4A in Genome Data Viewer
    Location:
    5p15.31
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (6713432..6757044)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (6644097..6687689)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (6713545..6757157)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900934 Neighboring gene long intergenic non-protein coding RNA 2102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15901 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22339 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:6726225-6727027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22342 Neighboring gene uncharacterized LOC107986401 Neighboring gene Sharpr-MPRA regulatory region 14782 Neighboring gene splicing factor 3A subunit 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:6770439-6770938 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:6772403-6773602

    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. Evidence that replication fork components catalyze establishment of cohesion between sister chromatids. Carson DR, et al. Proc Natl Acad Sci U S A, 2001 Jul 17. PMID 11459963, Free PMC Article
    2. TENT4A Non-Canonical Poly(A) Polymerase Regulates DNA-Damage Tolerance via Multiple Pathways That Are Mutated in Endometrial Cancer. Swain U, et al. Int J Mol Sci, 2021 Jun 28. PMID 34203408, Free PMC Article
    3. Molecular cloning and characterization of a novel isoform of the non-canonical poly(A) polymerase PAPD7. Ogami K, et al. Biochem Biophys Res Commun, 2013 Mar 1. PMID 23376078
    4. Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita. Shukla S, et al. Blood Adv, 2020 Jun 23. PMID 32559291, Free PMC Article
    5. The ZCCHC14/TENT4 complex is required for hepatitis A virus RNA synthesis. Li Y, et al. Proc Natl Acad Sci U S A, 2022 Jul 12. PMID 35867748, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The ZCCHC14/TENT4 complex is required for hepatitis A virus RNA synthesis.
      Title: The ZCCHC14/TENT4 complex is required for hepatitis A virus RNA synthesis.
    2. TENT4A Non-Canonical Poly(A) Polymerase Regulates DNA-Damage Tolerance via Multiple Pathways That Are Mutated in Endometrial Cancer.
      Title: TENT4A Non-Canonical Poly(A) Polymerase Regulates DNA-Damage Tolerance via Multiple Pathways That Are Mutated in Endometrial Cancer.
    3. Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita.
      Title: Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita.
    4. Viral hijacking of the TENT4-ZCCHC14 complex protects viral RNAs via mixed tailing.
      Title: Viral hijacking of the TENT4-ZCCHC14 complex protects viral RNAs via mixed tailing.
    5. TENT4A and TENT4B produce a mixed tail that shields mRNA from rapid deadenylation.
      Title: Mixed tailing by TENT4A and TENT4B shields mRNA from rapid deadenylation.
    6. These results suggest that PAPD7 l is the major and active isoform of PAPD7 expressed in cells.
      Title: Molecular cloning and characterization of a novel isoform of the non-canonical poly(A) polymerase PAPD7.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
    EBI GWAS Catalog
    Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    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 GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables SMC family protein binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables guanylyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables poly(A) RNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA 3' uridylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in RNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic chromosome condensation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of nuclear-transcribed mRNA poly(A) tail shortening IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in polyadenylation-dependent ncRNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of 3'-UTR-mediated mRNA stabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to xenobiotic stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sister chromatid cohesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    part_of TRAMP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    terminal nucleotidyltransferase 4A
    Names
    DNA polymerase kappa
    DNA polymerase sigma
    PAP-associated domain-containing protein 7
    TRAMP-like complex polyadenylate polymerase
    non-canonical poly(A) RNA polymerase PAPD7
    poly(A) RNA polymerase D7, non-canonical
    polymerase (DNA directed) sigma
    terminal guanylyltransferase
    terminal uridylyltransferase 5
    topoisomerase-related function protein 4-1
    NP_001165276.2
    NP_008930.2
    XP_016864477.1
    XP_047272620.1
    XP_047272621.1
    XP_047272622.1
    XP_047272623.1
    XP_047272624.1
    XP_054207474.1
    XP_054207475.1
    XP_054207476.1
    XP_054207477.1
    XP_054207478.1
    XP_054207479.1
    XP_054207480.1

    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_001171805.3 → NP_001165276.2  terminal nucleotidyltransferase 4A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AB005754, AC122710, AI871781, BC143882, KC424495
      Conserved Domains (1) summary
      cl27230
      Location:240 → 545
      PAP_assoc; Cid1 family poly A polymerase

    2. NM_006999.6 → NP_008930.2  terminal nucleotidyltransferase 4A isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB005754, AC122710, AK289857, BC084567, BC143882, KC424495
      Consensus CDS
      CCDS3871.2
      UniProtKB/Swiss-Prot
      A0A0X1KG68, A8K1E2, M1JCE6, O43289, Q17RZ1, Q5XG87, Q9Y6C1
      Related
      ENSP00000230859.7, ENST00000230859.8
      Conserved Domains (1) summary
      cl27230
      Location:240 → 545
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      6713432..6757044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416667.1 → XP_047272623.1  terminal nucleotidyltransferase 4A isoform X2

    2. XM_047416666.1 → XP_047272622.1  terminal nucleotidyltransferase 4A isoform X1

      UniProtKB/TrEMBL
      A0A9H4DBI9

    3. XM_047416664.1 → XP_047272620.1  terminal nucleotidyltransferase 4A isoform X1

      UniProtKB/TrEMBL
      A0A9H4DBI9

    4. XM_017008988.3 → XP_016864477.1  terminal nucleotidyltransferase 4A isoform X2

      UniProtKB/TrEMBL
      B7ZLL4
      Conserved Domains (1) summary
      COG5260
      Location:2 → 286
      TRF4; DNA polymerase sigma [Replication, recombination and repair]

    5. XM_047416668.1 → XP_047272624.1  terminal nucleotidyltransferase 4A isoform X3

    6. XM_047416665.1 → XP_047272621.1  terminal nucleotidyltransferase 4A isoform X1

      UniProtKB/TrEMBL
      A0A9H4DBI9
      Related
      ENSP00000488642.1, ENST00000631941.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      6644097..6687689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351504.1 → XP_054207479.1  terminal nucleotidyltransferase 4A isoform X2

    2. XM_054351499.1 → XP_054207474.1  terminal nucleotidyltransferase 4A isoform X4

    3. XM_054351500.1 → XP_054207475.1  terminal nucleotidyltransferase 4A isoform X1

      UniProtKB/TrEMBL
      A0A9H4DBI9

    4. XM_054351502.1 → XP_054207477.1  terminal nucleotidyltransferase 4A isoform X1

      UniProtKB/TrEMBL
      A0A9H4DBI9

    5. XM_054351503.1 → XP_054207478.1  terminal nucleotidyltransferase 4A isoform X2

    6. XM_054351505.1 → XP_054207480.1  terminal nucleotidyltransferase 4A isoform X3

    7. XM_054351501.1 → XP_054207476.1  terminal nucleotidyltransferase 4A isoform X1

      UniProtKB/TrEMBL
      A0A9H4DBI9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001171806.1: Suppressed sequence

      Description
      NM_001171806.1: This RefSeq was removed because currently there is insufficient support for the transcript and protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5XG87.4 GenPept UniProtKB/Swiss-Prot:Q5XG87

    Gene LinkOut

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