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

    Gene ID: 11044, updated on 6-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    See TENT4A in Genome Data Viewer
    Location:
    5p15.31
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (6713432..6757044)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (6644097..6687689)
    105.20220307 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

    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 Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    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.

    mRNA and Protein(s)

    1. NM_001171805.3NP_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:240545
      PAP_assoc; Cid1 family poly A polymerase
    2. NM_006999.6NP_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:240545
      PAP_assoc; Cid1 family poly A polymerase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_047416667.1XP_047272623.1  terminal nucleotidyltransferase 4A isoform X2

      UniProtKB/TrEMBL
      B7ZLL4
    2. XM_047416666.1XP_047272622.1  terminal nucleotidyltransferase 4A isoform X1

      UniProtKB/TrEMBL
      A0A9H4DBI9, B7ZLL4
    3. XM_047416664.1XP_047272620.1  terminal nucleotidyltransferase 4A isoform X1

      UniProtKB/TrEMBL
      A0A9H4DBI9, B7ZLL4
    4. XM_017008988.3XP_016864477.1  terminal nucleotidyltransferase 4A isoform X2

      UniProtKB/TrEMBL
      B7ZLL4
      Conserved Domains (1) summary
      COG5260
      Location:2286
      TRF4; DNA polymerase sigma [Replication, recombination and repair]
    5. XM_047416668.1XP_047272624.1  terminal nucleotidyltransferase 4A isoform X3

      UniProtKB/TrEMBL
      B7ZLL4
    6. XM_047416665.1XP_047272621.1  terminal nucleotidyltransferase 4A isoform X1

      UniProtKB/TrEMBL
      A0A9H4DBI9, B7ZLL4
      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_054351504.1XP_054207479.1  terminal nucleotidyltransferase 4A isoform X2

      UniProtKB/TrEMBL
      B7ZLL4
    2. XM_054351499.1XP_054207474.1  terminal nucleotidyltransferase 4A isoform X4

      UniProtKB/TrEMBL
      B7ZLL4
    3. XM_054351500.1XP_054207475.1  terminal nucleotidyltransferase 4A isoform X1

      UniProtKB/TrEMBL
      A0A9H4DBI9, B7ZLL4
    4. XM_054351502.1XP_054207477.1  terminal nucleotidyltransferase 4A isoform X1

      UniProtKB/TrEMBL
      A0A9H4DBI9, B7ZLL4
    5. XM_054351503.1XP_054207478.1  terminal nucleotidyltransferase 4A isoform X2

      UniProtKB/TrEMBL
      B7ZLL4
    6. XM_054351505.1XP_054207480.1  terminal nucleotidyltransferase 4A isoform X3

      UniProtKB/TrEMBL
      B7ZLL4
    7. XM_054351501.1XP_054207476.1  terminal nucleotidyltransferase 4A isoform X1

      UniProtKB/TrEMBL
      A0A9H4DBI9, B7ZLL4

    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.