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    TENT5D terminal nucleotidyltransferase 5D [ Homo sapiens (human) ]

    Gene ID: 169966, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TENT5Dprovided by HGNC
    Official Full Name
    terminal nucleotidyltransferase 5Dprovided by HGNC
    Primary source
    HGNC:HGNC:28399
    See related
    Ensembl:ENSG00000174016 MIM:300976; AllianceGenome:HGNC:28399
    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
    CT112; CT1.26; FAM46D
    Summary
    Antibodies against the protein encoded by this gene were found only in plasma from cancer patients. While it may be a target for immunotherapy, the function of this gene is unknown. [provided by RefSeq, Dec 2009]
    Expression
    Restricted expression toward testis (RPKM 2.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See TENT5D in Genome Data Viewer
    Location:
    Xq21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (80335504..80445309)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (78768214..78878855)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (79591003..79700808)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TBX22 P0 promoter Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:79277949-79278449 Neighboring gene T-box transcription factor 22 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:79471575-79472774 Neighboring gene charged multivesicular body protein 1B2, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5203 Neighboring gene heterogeneous nuclear ribonucleoprotein H3 pseudogene 1 Neighboring gene WBP11 pseudogene 3

    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. Identification of FAM46D as a novel cancer/testis antigen using EST data and serological analysis. Bettoni F, et al. Genomics, 2009 Sep. PMID 19540335
    2. 3' RNA Uridylation in Epitranscriptomics, Gene Regulation, and Disease. Menezes MR, et al. Front Mol Biosci, 2018. PMID 30057901, Free PMC Article
    3. Structural and Functional Analyses of the FAM46C/Plk4 Complex. Chen H, et al. Structure, 2020 Aug 4. PMID 32433990, Free PMC Article
    4. The non-canonical poly(A) polymerase FAM46C acts as an onco-suppressor in multiple myeloma. Mroczek S, et al. Nat Commun, 2017 Sep 20. PMID 28931820, Free PMC Article
    5. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Tarpey PS, et al. Nat Genet, 2009 May. PMID 19377476, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of FAM46D is associated with neoplasms.
      Title: Identification of FAM46D as a novel cancer/testis antigen using EST data and serological analysis.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC26999

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 poly(A) RNA polymerase activity IMP
    Inferred from Mutant Phenotype
    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
    		  

    General protein information

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    Preferred Names
    terminal nucleotidyltransferase 5D
    Names
    cancer/testis antigen 112
    family with sequence similarity 46 member D
    non-canonical poly(A) polymerase FAM46D
    protein FAM46D
    putative nucleotidyltransferase FAM46D
    NP_001164045.1
    NP_689843.1

    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.

    Genomic

    1. NG_016384.3 RefSeqGene

      Range
      89945..114807
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001170574.2 → NP_001164045.1  terminal nucleotidyltransferase 5D

      See identical proteins and their annotated locations for NP_001164045.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL591431
      Consensus CDS
      CCDS14446.1
      UniProtKB/Swiss-Prot
      B2R9Q6, Q7Z3F6, Q8NEK8, Q8NHU1
      Related
      ENSP00000443410.1, ENST00000538312.5
      Conserved Domains (1) summary
      pfam07984
      Location:9 → 327
      NTP_transf_7; Nucleotidyltransferase

    2. NM_152630.5 → NP_689843.1  terminal nucleotidyltransferase 5D

      See identical proteins and their annotated locations for NP_689843.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      BC030784, BX506299
      Consensus CDS
      CCDS14446.1
      UniProtKB/Swiss-Prot
      B2R9Q6, Q7Z3F6, Q8NEK8, Q8NHU1
      Related
      ENSP00000308575.5, ENST00000308293.6
      Conserved Domains (1) summary
      pfam07984
      Location:9 → 327
      NTP_transf_7; Nucleotidyltransferase

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      80335504..80445309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      78768214..78878855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEK8.1 GenPept UniProtKB/Swiss-Prot:Q8NEK8

    Gene LinkOut

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

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