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    TENT5A terminal nucleotidyltransferase 5A [ Homo sapiens (human) ]

    Gene ID: 55603, updated on 1-Mar-2024

    Summary

    Official Symbol
    TENT5Aprovided by HGNC
    Official Full Name
    terminal nucleotidyltransferase 5Aprovided by HGNC
    Primary source
    HGNC:HGNC:18345
    See related
    Ensembl:ENSG00000112773 MIM:611357; AllianceGenome:HGNC:18345
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OI18; XTP11; FAM46A; C6orf37
    Summary
    Enables RNA binding activity. Predicted to be involved in mRNA stabilization. Predicted to act upstream of or within response to bacterium. Implicated in lung non-small cell carcinoma; osteoarthritis; and osteogenesis imperfecta type 18. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in bone marrow (RPKM 86.6), salivary gland (RPKM 24.3) and 18 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TENT5A in Genome Data Viewer
    Location:
    6q14.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (81745730..81752681, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (82955095..82962045, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (82455447..82462398, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377871 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:82161082-82162281 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:82299236-82299424 Neighboring gene RNA, 5S ribosomal pseudogene 210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:82383043-82383543 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96030 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96031 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:82462059-82462559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24774 Neighboring gene uncharacterized LOC105377873 Neighboring gene small nucleolar RNA SNORA70 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24775 Neighboring gene long intergenic non-protein coding RNA 1526

    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

    Associated conditions

    Description Tests
    Osteogenesis imperfecta, type 18
    MedGen: C4693736 OMIM: 617952 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
    EBI GWAS Catalog
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20037, FLJ31495

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA 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 
    Process Evidence Code Pubs
    involved_in mRNA stabilization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    terminal nucleotidyltransferase 5A
    Names
    HBV X-transactivated gene 11 protein
    HBV XAg-transactivated protein 11
    family with sequence similarity 46 member A
    protein FAM46A
    putative nucleotidyltransferase FAM46A
    retinal expressed gene C6orf37
    NP_060103.2

    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_056210.1 RefSeqGene

      Range
      5031..11982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017633.3NP_060103.2  terminal nucleotidyltransferase 5A

      See identical proteins and their annotated locations for NP_060103.2

      Status: VALIDATED

      Source sequence(s)
      AF350451, AI131001, BC007351, DA981608
      Consensus CDS
      CCDS34489.1
      UniProtKB/Swiss-Prot
      A8K7U4, Q5TF86, Q8NFZ9, Q96IP4, Q9BW32, Q9NXV5
      UniProtKB/TrEMBL
      B6E614
      Related
      ENSP00000318298.6, ENST00000320172.11
      Conserved Domains (1) summary
      pfam07984
      Location:66383
      NTP_transf_7; Nucleotidyltransferase

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      81745730..81752681 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      82955095..82962045 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)