| Tbio | Survival of motor neuron-related-splicing factor 30 |
Necessary for spliceosome assembly. Overexpression causes apoptosis.
This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]
This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| dermatomyositis | 967 | 8.05950703481662E-4 |
| diabetes mellitus | 1663 | 0.00172887003472696 |
| Multiple myeloma | 1328 | 0.00782872690238778 |
| pancreatic cancer | 2300 | 0.0157962709368955 |
| mucosa-associated lymphoid tissue lymphoma | 480 | 0.0222689577849581 |
| Disease | log2 FC | p |
|---|---|---|
| Multiple myeloma | 1.452 | 0.008 |
| diabetes mellitus | -1.600 | 0.002 |
| mucosa-associated lymphoid tissue lympho... | -1.343 | 0.022 |
| pancreatic cancer | 1.100 | 0.016 |
| dermatomyositis | 1.200 | 0.001 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA EggNOG Inparanoid |
| Opossum | EggNOG Inparanoid |
| Platypus | OMA EggNOG Inparanoid |
| Chicken | OMA EggNOG Inparanoid |
| Anole lizard | OMA EggNOG Inparanoid |
| Zebrafish | OMA EggNOG Inparanoid |
| C. elegans | OMA Inparanoid |
| PMID | Text |
|---|---|
| 22363433 | The binding specificity and affinity of the Tudor domains of TDRD3, SMN and SPF30 proteins were characterized quantitatively. |
| 22101937 | The structures of SMN and SPF30 Tudor domains bound to symmetric and asymmetric dimethylated arginine (DMA) are presented. |
| 18211889 | U2AF35 and hPrp3 interactions with SPF30 can occur simultaneously, thereby potentially linking 3' splice site recognition with tri-small nuclear ribonucleoprotein addition |
| 16385451 | Observational study of gene-disease association. (HuGE Navigator) |
| PMID | Year | Title |
|---|---|---|
| 23850713 | 2014 | Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. |
| 23186163 | 2013 | Toward a comprehensive characterization of a human cancer cell phosphoproteome. |
| 22658674 | 2012 | Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. |
| 22365833 | 2012 | Dynamic protein-protein interaction wiring of the human spliceosome. |
| 22363433 | 2012 | Crystal structure of TDRD3 and methyl-arginine binding characterization of TDRD3, SMN and SPF30. |
| 22101937 | 2011 | Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins. |
| 21269460 | 2011 | Initial characterization of the human central proteome. |
| 20068231 | 2010 | Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. |
| 19690332 | 2009 | Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. |
| 19608861 | 2009 | Lysine acetylation targets protein complexes and co-regulates major cellular functions. |
| More... |
