| Gene Information | |
|---|---|
| Gene Name | KIAA0221 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1129 |
| Protein Names | Regulator of nonsense transcripts 1 (EC 3.6.4.12) (EC 3.6.4.13) (ATP-dependent helicase RENT1) (Nonsense mRNA reducing factor 1) (NORF1) (Up-frameshift suppressor 1 homolog) (hUpf1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q92900 |
| Gene Card | UPF1 |
| Uniprot ID | Q92900 |
| Pfam | PF13086; PF13087; PF04851; PF18141; PF09416 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Ubiquitous. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 2GJK (X-ray 2.60A ) 2GK6 (X-ray 2.40A ) 2GK7 (X-ray 2.80A ) 2IYK (X-ray 2.95A ) 2WJV (X-ray 2.85A ) 2WJY (X-ray 2.50A ) 2XZO (X-ray 2.40A ) 2XZP (X-ray 2.72A ) 6EJ5 (X-ray 3.34A ) 6Z3R (EM 2.97A ) |
| DBSNP | rs17339451 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:11163187}. Cytoplasm, P-body. Nucleus {ECO:0000269|PubMed:11163187, ECO:0000269|PubMed:18362360}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q9EPU0}. Note=Hyperphosphorylated form is targeted to the P-body, while unphosphorylated protein is distributed throughout the cytoplasm. Localized in the chromatoid bodies of round spermatids (By similarity). {ECO:0000250|UniProtKB:Q9EPU0}. |
| Mouse PG classification | NA |
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