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

Gene ID: 169966, updated on 5-Mar-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
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Genomic context

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Location:
Xq21.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (80335504..80445309)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (78768214..78878855)
105.20220307 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
  • 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)

Genotypes

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_2023_10

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

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