TENT5C terminal nucleotidyltransferase 5C [Homo sapiens (human)] - Gene

Summary

Official Symbol: TENT5Cprovided by HGNC
Official Full Name: terminal nucleotidyltransferase 5Cprovided by HGNC
Primary source: HGNC:HGNC:24712
See related: Ensembl:ENSG00000183508 MIM:613952; AllianceGenome:HGNC:24712
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: FAM46C
Summary: Enables poly(A) RNA polymerase activity. Involved in mRNA stabilization and negative regulation of cell differentiation. Located in centrosome; cytoplasm; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in bone marrow (RPKM 37.0), testis (RPKM 24.1) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (117606048..117628389)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (117615263..117637599)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (118148670..118171011)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hsa-miR-1269a up-regulation fosters the malignant progression of esophageal squamous cell carcinoma via targeting FAM46C.
Title: Hsa-miR-1269a up-regulation fosters the malignant progression of esophageal squamous cell carcinoma via targeting FAM46C.
FAM46C-mediated tumor heterogeneity predicts extramedullary metastasis and poorer survival in multiple myeloma.
Title: FAM46C-mediated tumor heterogeneity predicts extramedullary metastasis and poorer survival in multiple myeloma.
Structural and functional characterization of multiple myeloma associated cytoplasmic poly(A) polymerase FAM46C.
Title: Structural and functional characterization of multiple myeloma associated cytoplasmic poly(A) polymerase FAM46C.
FAM46C suppresses gastric cancer by inhibition of Wnt/beta-catenin.
Title: FAM46C suppresses gastric cancer by inhibition of Wnt/beta-catenin.
FAM46C/TENT5C functions as a tumor suppressor through inhibition of Plk4 activity.
Title: FAM46C/TENT5C functions as a tumor suppressor through inhibition of Plk4 activity.
The Interaction of the Tumor Suppressor FAM46C with p62 and FNDC3 Proteins Integrates Protein and Secretory Homeostasis.
Title: The Interaction of the Tumor Suppressor FAM46C with p62 and FNDC3 Proteins Integrates Protein and Secretory Homeostasis.
FAM46C controls antibody production by the polyadenylation of immunoglobulin mRNAs and inhibits cell migration in multiple myeloma.
Title: FAM46C controls antibody production by the polyadenylation of immunoglobulin mRNAs and inhibits cell migration in multiple myeloma.
FAM46C and FNDC3A Are Multiple Myeloma Tumor Suppressors That Act in Concert to Impair Clearing of Protein Aggregates and Autophagy.
Title: FAM46C and FNDC3A Are Multiple Myeloma Tumor Suppressors That Act in Concert to Impair Clearing of Protein Aggregates and Autophagy.
Down-regulation of miR-10b represses cell vitality in osteosarcoma and is inversely associated with prognosis via interacting with FAM46C: Running title: MiR-10b/FAM46C axis modulates OS progression.
Title: Down-regulation of miR-10b represses cell vitality in osteosarcoma and is inversely associated with prognosis via interacting with FAM46C: Running title: MiR-10b/FAM46C axis modulates OS progression.
Disruption of the family with sequence similarity 46, member C (FAM46C) gene promotes tumorigenicity of myeloma cells. Levels of phosphorylated Akt and its substrates increase both in vitro and in vivo in the FAM46C(-/-) cells compared to WT cells. Loss of FAM46C significantly activated serum-responsive genes while inactivating phosphatase and tensin homolog (PTEN)-related genes.
Title: Biallelic loss of FAM46C triggers tumor growth with concomitant activation of Akt signaling in multiple myeloma cells.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

RH119117 (e-PCR)
- UniSTS:139009

AL033901 (e-PCR)
- UniSTS:93777

SGC34840 (e-PCR)
- UniSTS:13415

FAM46C_9835 (e-PCR)
- UniSTS:471432

D1S453 (e-PCR), detects polymorphism
- UniSTS:67484

SHGC-75377 (e-PCR)
- UniSTS:63917

SHGC-75381 (e-PCR)
- UniSTS:6854

D1S453 (e-PCR), detects polymorphism
- UniSTS:24306

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
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 in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in mRNA stabilization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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 5C

Names: family with sequence similarity 46 member C; non-canonical poly(A) polymerase FAM46C; protein FAM46C; putative nucleotidyltransferase FAM46C

NP_060179.2

EC 2.7.7.19

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.