UPF3B
Summary: This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| UPF3B, regulator of nonsense mediated mRNA decay | MIM:300298 | Ensembl:ENSG00000125351 | HGNC:HGNC:20439 | PA128394708 | Xq24 |
Gene Categories:
TRANSPORTERGO terms in UPF3B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IBA | GO:0003729 | mRNA binding |
| MF | IDA | GO:0003729 | mRNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | NAS | GO:0017056 | structural constituent of nuclear pore |
| CC | IDA | GO:0005634 | nucleus |
| CC | NAS | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | NAS | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005815 | microtubule organizing center |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0035145 | exon-exon junction complex |
| CC | IDA | GO:0035145 | exon-exon junction complex |
| BP | IBA | GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
| BP | IDA | GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
| BP | IMP | GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
| BP | NAS | GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
| BP | TAS | GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
| BP | TAS | GO:0000398 | mRNA splicing, via spliceosome |
| BP | TAS | GO:0006405 | RNA export from nucleus |
| BP | TAS | GO:0006406 | mRNA export from nucleus |
| BP | TAS | GO:0031124 | mRNA 3'-end processing |
| BP | IBA | GO:0045727 | positive regulation of translation |
| BP | IDA | GO:0045727 | positive regulation of translation |
Gene expression in normal tissue: UPF3B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in UPF3B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109688 | Cleavage of Growing Transcript in the Termination Region |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-159236 | Transport of Mature mRNA derived from an Intron-Containing Transcript |
| reactome | R-HSA-376176 | Signaling by ROBO receptors |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-72163 | mRNA Splicing - Major Pathway |
| reactome | R-HSA-72172 | mRNA Splicing |
| reactome | R-HSA-72187 | mRNA 3'-end processing |
| reactome | R-HSA-72202 | Transport of Mature Transcript to Cytoplasm |
| reactome | R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| reactome | R-HSA-73856 | RNA Polymerase II Transcription Termination |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8953854 | Metabolism of RNA |
| reactome | R-HSA-9010553 | Regulation of expression of SLITs and ROBOs |
| reactome | R-HSA-927802 | Nonsense-Mediated Decay (NMD) |
| reactome | R-HSA-975957 | Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
| kegg | hsa03013 | RNA transport - Homo sapiens (human) |
| kegg | hsa03015 | mRNA surveillance pathway - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in UPF3B
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