TENT5C
Terminal Nucleotidyltransferase 5C, a non-canonical poly(A) polymerase involved in mRNA regulation and cancer
Gene Information Card
| Symbol | TENT5C |
|---|---|
| Full Name | Terminal Nucleotidyltransferase 5C |
| Gene Type | Protein coding |
| Chromosomal Location | 1p12 |
| NCBI Gene ID | 54855 ncbi.nlm.nih.gov/gene/54855 |
| Ensembl ID | ENSG00000173409 |
| UniProt ID | Q5VWQ8 |
| OMIM ID | 611338 |
| HGNC ID | 13212 |
| Aliases | FAM46C, C1orf79 |
Description
TENT5C (FAM46C) encodes a non-canonical poly(A) polymerase that adds poly(A) tails to specific mRNAs, enhancing their stability and translation. It is frequently mutated and downregulated in multiple myeloma, acting as a tumor suppressor. TENT5C belongs to the terminal nucleotidyltransferase family and is involved in post-transcriptional regulation of genes related to plasma cell differentiation and immune function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Myeloma | Loss-of-function mutations and deletions of TENT5C impair polyadenylation of target mRNAs, promoting oncogenic transformation and disease progression. | COSMIC, ClinVar, NCBI |
| Plasma Cell Neoplasm | Somatic mutations in TENT5C are recurrent in multiple myeloma, with evidence of biallelic inactivation. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymphoid tissue | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.7 | Low |
| Testis | 6.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RPMI-8226 (myeloma) | 15.3 | Moderate expression |
| U266 (myeloma) | 11.8 | Moderate expression |
| K562 (leukemia) | 4.5 | Low expression |
| HeLa (cervical) | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.406C>T (p.Arg136*) | Nonsense | 0.5% in multiple myeloma | Loss of function; truncated protein |
| c.632_633del (p.Glu211Glyfs*12) | Frameshift deletion | 0.3% in multiple myeloma | Loss of function; premature stop |
| c.1A>G (p.Met1?) | Start loss | <0.1% | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Recurrent nonsense, frameshift, and missense mutations in multiple myeloma lead to loss of poly(A) polymerase activity and tumor suppression.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • poly(A) RNA polymerase activity |
| • mRNA polyadenylation | • cytoplasm |
| • regulation of mRNA stability |
Pathways
• mRNA polyadenylation
• Post-transcriptional regulation of gene expression
Protein Summary
TENT5C is a 422-amino acid protein with a nucleotidyltransferase domain. It catalyzes the addition of poly(A) tails to specific mRNAs, promoting their stability and translation. The protein is predominantly cytoplasmic and highly expressed in lymphoid tissues. Loss of TENT5C function is a hallmark of multiple myeloma, where it acts as a tumor suppressor by regulating genes involved in plasma cell differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TENT5C Knockout HEK293 Cell Line | EDJ-KQ16973 | Human | 54855 | Details Get a Quote |
| TENT5C Knockout HeLa Cell Line | EDJ-KQ56489 | Human | 54855 | Details Get a Quote |
| TENT5C Knockout A-549 Cell Line | EDJ-KQ64979 | Human | 54855 | Details Get a Quote |
| TENT5C Knockout HCT 116 Cell Line | EDJ-KQ73424 | Human | 54855 | Details Get a Quote |
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