ZFP36L1: A Key Regulator of mRNA Stability and Immune Response
Comprehensive gene overview of ZFP36L1, including function, expression, mutations, and disease associations.
Gene Information Card
| Symbol | ZFP36L1 |
|---|---|
| Full Name | ZFP36 ring finger protein like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 677 ncbi.nlm.nih.gov/gene/677 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q07352 |
| OMIM ID | 601064 |
| HGNC ID | 12866 |
| Aliases | BRF1, ERF-1, ERF1, TIS11B, cMG1 |
Description
ZFP36L1 (ZFP36 ring finger protein like 1) encodes a member of the tristetraprolin (TTP) family of CCCH-type zinc finger proteins. This protein binds to AU-rich elements (AREs) in the 3' untranslated regions of target mRNAs, promoting their deadenylation and decay. ZFP36L1 plays a critical role in post-transcriptional regulation of cytokines, growth factors, and proto-oncogenes, thereby influencing immune responses, hematopoiesis, and cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | Loss of ZFP36L1 leads to increased stability of oncogenic mRNAs (e.g., MYC, BCL2), promoting leukemogenesis. | PMID: 27746112; COSMIC |
| B-cell acute lymphoblastic leukemia (B-ALL) | Deletion or reduced expression of ZFP36L1 disrupts mRNA decay of pro-survival factors, contributing to B-cell transformation. | PMID: 27746112; ClinVar |
| Inflammatory diseases | Dysregulation of ZFP36L1 alters cytokine mRNA stability (e.g., TNF, IL-6), exacerbating inflammation. | PMID: 21930773; NCBI Gene |
| Colorectal cancer | ZFP36L1 downregulation correlates with poor prognosis and increased MYC expression. | PMID: 25605248; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lymph node | 9.2 | Medium |
| Lung | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HeLa (cervical) | 8.7 | Medium expression |
| HEK293 (embryonic kidney) | 6.4 | Low expression |
| HepG2 (liver) | 3.9 | 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.487C>T (p.Arg163*) | Nonsense | <0.1% | Premature stop, loss of function |
| c.614_615del (p.Gln205Argfs*12) | Frameshift | <0.1% | Frameshift, loss of function |
| c.1003G>A (p.Ala335Thr) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations in ZFP36L1 are predicted to result in loss of mRNA decay activity, leading to increased stability of oncogenic and pro-inflammatory transcripts.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ZFP36L1.
Dominant Negative (DN)
No dominant-negative mutations have been described for ZFP36L1.
View complete mutation data：
Gene Ontology (GO)
| • mRNA binding (GO:0003729) | • zinc ion binding (GO:0008270) |
| • mRNA catabolic process (GO:0006402) | • regulation of mRNA stability (GO:0043488) |
| • negative regulation of cell proliferation (GO:0008285) | • inflammatory response (GO:0006954) |
Pathways
• mRNA surveillance pathway (KEGG: hsa03015)
• Tristetraprolin (TTP) family mediated mRNA decay (Reactome: R-HSA-450408)
Protein Summary
ZFP36L1 is a 338-amino acid protein containing two CCCH-type zinc finger domains that mediate sequence-specific binding to AU-rich elements (AREs) in target mRNAs. It recruits the CCR4-NOT deadenylase complex to promote poly(A) tail removal and subsequent mRNA degradation. The protein is predominantly cytoplasmic and shuttles between nucleus and cytoplasm. ZFP36L1 is essential for regulating the stability of mRNAs encoding cytokines (e.g., TNF, GM-CSF), cell cycle regulators (e.g., cyclin D1), and proto-oncogenes (e.g., MYC).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZFP36L1 Knockout HEK293 Cell Line | EDJ-KQ4146 | Human | 677 | Details Get a Quote |
| ZFP36L1 Knockout A-549 Cell Line | EDJ-KQ26579 | Human | 677 | Details Get a Quote |
| ZFP36L1 Knockout HCT 116 Cell Line | EDJ-KQ26580 | Human | 677 | Details Get a Quote |
| ZFP36L1 Knockout HeLa Cell Line | EDJ-KQ26581 | Human | 677 | Details Get a Quote |
| ZFP36L1 Knockout MAC-T Cell Line | EDC07931 | Bovine | 7538 | Details Get a Quote |
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