PYM1: Partner of Y14 and MAGOH
A key regulator of nonsense-mediated mRNA decay and RNA splicing
Gene Information Card
| Symbol | PYM1 |
|---|---|
| Full Name | Partner of Y14 and MAGOH |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 84305 ncbi.nlm.nih.gov/gene/84305 |
| Ensembl ID | ENSG00000110931 |
| UniProt ID | Q9BRP8 |
| OMIM ID | 617874 |
| HGNC ID | 30258 |
| Aliases | PYM, WIBG, WIBG1 |
Description
PYM1 encodes a protein that is a component of the exon junction complex (EJC) and plays a critical role in nonsense-mediated mRNA decay (NMD). It interacts with Y14 and MAGOH to regulate RNA splicing and mRNA surveillance, ensuring the degradation of transcripts containing premature termination codons.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of NMD leads to aberrant mRNA transcripts affecting neuronal development | ClinVar |
| Autism spectrum disorder | PYM1 variants may impair synaptic mRNA regulation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | High expression |
| HeLa | 7.8 | Moderate expression |
| K562 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Potential loss of function |
| c.200C>T | Nonsense | Very rare | Truncated protein, likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that disrupt EJC binding and NMD activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • nonsense-mediated mRNA decay |
| • exon junction complex | • mRNA splicing |
| • via spliceosome |
Pathways
• Nonsense-mediated decay (NMD)
• mRNA surveillance pathway
Protein Summary
The PYM1 protein (UniProt Q9BRP8) is 227 amino acids long and contains a conserved domain that mediates interaction with the Y14-MAGOH heterodimer. It is localized in the nucleus and cytoplasm, facilitating the removal of EJC components during translation and promoting NMD.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PYM1 Knockout HEK293 Cell Line | EDJ-KQ3410 | Human | 84305 | Details Get a Quote |
| PYM1 Knockout A-549 Cell Line | EDJ-KQ25123 | Human | 84305 | Details Get a Quote |
| PYM1 Knockout HCT 116 Cell Line | EDJ-KQ25124 | Human | 84305 | Details Get a Quote |
| PYM1 Knockout HeLa Cell Line | EDJ-KQ25125 | Human | 84305 | Details Get a Quote |
