NUDT21
Nudix Hydrolase 21: A Key Regulator of Alternative Polyadenylation and RNA Processing
Gene Information Card
| Symbol | NUDT21 |
|---|---|
| Full Name | Nudix Hydrolase 21 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q13.3 |
| NCBI Gene ID | 11051 ncbi.nlm.nih.gov/gene/11051 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | O43809 |
| OMIM ID | 609224 |
| HGNC ID | 8043 |
| Aliases | CFIm25, CPSF5, NUDT21 |
Description
NUDT21 (Nudix Hydrolase 21), also known as CFIm25, is a core component of the cleavage factor Im (CFIm) complex that regulates alternative polyadenylation (APA). It binds to RNA and mediates 3' end processing of pre-mRNA, influencing mRNA stability, localization, and translation. NUDT21 is involved in cell proliferation, differentiation, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | NUDT21 downregulation promotes 3'UTR shortening of oncogenes, enhancing their expression and tumor growth | PMID: 29533785 |
| Glioblastoma | Loss of NUDT21 leads to APA shifts that increase expression of tumor-promoting genes | PMID: 30523277 |
| Neurodevelopmental Disorders | Mutations in NUDT21 are associated with intellectual disability and microcephaly | PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 6.7 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 11.2 | Moderate expression |
| MCF7 | 9.8 | Moderate expression |
| U87MG | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.502C>T (p.Arg168Trp) | Missense | <0.1% | Impaired RNA binding, associated with neurodevelopmental delay |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations that truncate the protein or disrupt the nudix hydrolase domain lead to loss of function, impairing APA regulation.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the RNA-binding domain may act in a dominant-negative manner by sequestering CFIm complex components.
View complete mutation data：
Gene Ontology (GO)
| • mRNA 3'-end processing | • RNA binding |
| • nucleus | • cleavage factor complex |
| • poly(A) binding |
Pathways
• mRNA 3'-end processing
• Alternative polyadenylation
• RNA transport
Protein Summary
NUDT21 encodes a 227-amino acid protein containing a nudix hydrolase domain. It functions as a dimer and forms part of the CFIm complex, which recognizes polyadenylation signals (PAS) and recruits cleavage and polyadenylation machinery. The protein is essential for proper 3' end formation of most mRNAs and its dysregulation contributes to cancer and neurodevelopmental disorders.
Related Services
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|---|---|---|---|---|
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