PATL1 Gene - PATL1 RNA Binding Protein
Gene encoding a protein involved in mRNA deadenylation and translational repression
Gene Information Card
| Symbol | PATL1 |
|---|---|
| Full Name | PAT1 homolog 1, processing body mRNA decay factor |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 219988 ncbi.nlm.nih.gov/gene/219988 |
| Ensembl ID | ENSG00000149380 |
| UniProt ID | Q86TB9 |
| OMIM ID | 614769 |
| HGNC ID | 28279 |
| Aliases | PAT1B, PAT1L1, MRT51 |
Description
PATL1 (PAT1 homolog 1, processing body mRNA decay factor) encodes a protein that localizes to cytoplasmic processing bodies (P-bodies) and functions in mRNA deadenylation and translational repression. It interacts with the CCR4-NOT complex and LSM1-7 complex to promote mRNA decay. Mutations in PATL1 are associated with autosomal recessive intellectual developmental disorder 51 (MRT51).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder 51 (MRT51) | Loss-of-function mutations impair mRNA decay and translational regulation, leading to neurodevelopmental defects | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Embryonic kidney cells |
| HeLa | 8.9 | Cervical carcinoma cells |
| K562 | 7.2 | Leukemia cells |
| HepG2 | 5.8 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function; associated with MRT51 |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Likely damaging; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; associated with MRT51
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • mRNA binding | • mRNA deadenylation |
| • cytoplasmic processing body | • translational repression |
| • regulation of mRNA stability |
Pathways
• mRNA decay by 3' to 5' exoribonuclease
• CCR4-NOT complex pathway
• LSM1-7 complex pathway
Protein Summary
PATL1 is a 509-amino acid protein (UniProt Q86TB9) that contains a PAT1 domain and localizes to P-bodies. It binds mRNA and interacts with the CCR4-NOT deadenylase complex and LSM1-7 complex to promote deadenylation and subsequent mRNA decay. It also represses translation independently of deadenylation. The protein is widely expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PATL1 Knockout HEK293 Cell Line | EDJ-KQ8478 | Human | 219988 | Details Get a Quote |
| PATL1 Knockout A-549 Cell Line | EDJ-KQ34594 | Human | 219988 | Details Get a Quote |
| PATL1 Knockout HCT 116 Cell Line | EDJ-KQ34595 | Human | 219988 | Details Get a Quote |
| PATL1 Knockout HeLa Cell Line | EDJ-KQ34596 | Human | 219988 | Details Get a Quote |
