Protein Summary
Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons (PubMed:19417104). Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8 (PubMed:19417104). Plays a role in brain, heart, and eye development (By similarity). This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]
- ENST00000270066
- ENSP00000270066
- ENSG00000105771
- ENST00000601170
- ENSP00000471398
- C19orf61
- HBMS
- C19orf61
- F17127_1
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
transcription factor binding site profile | 0.79 | ||
histone modification site profile | 0.76 | ||
disease perturbation | 0.68 | ||
transcription factor | 0.66 | ||
tissue sample | 0.64 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 34.04 (req: < 5)
Gene RIFs: 11 (req: <= 3)
Antibodies: 53 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 34.04 (req: >= 5)
Gene RIFs: 11 (req: > 3)
Antibodies: 53 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 5
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0