| Tbio | TAR DNA-binding protein 43 |
DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3' UTR.
HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Amyotrophic lateral sclerosis | 451 | 8.09 | 4.0 |
| Amyotrophic Lateral Sclerosis 10 | 1 | 0.0 | 0.0 |
| Frontotemporal Lobar Degeneration | 6 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| lung carcinoma | 2843 | 3.1e-11 |
| juvenile dermatomyositis | 1187 | 1.1e-10 |
| osteosarcoma | 7950 | 2.8e-07 |
| dermatomyositis | 966 | 5.6e-04 |
| ovarian cancer | 8520 | 7.9e-04 |
| Multiple myeloma | 1332 | 4.6e-03 |
| astrocytoma | 1146 | 6.3e-03 |
| diabetes mellitus | 1728 | 1.4e-02 |
| acute myeloid leukemia | 783 | 4.1e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Alopecia universalis | 16 | 0.0 | 3.0 |
| Bone cancer | 16 | 0.0 | 3.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neurodegenerative disease | 414 | 0.0 | 4.0 |
| Disease | Target Count |
|---|---|
| Amyotrophic Lateral Sclerosis 10 With or Without Frontotemporal Dementia | 1 |
| Disease | log2 FC | p |
|---|---|---|
| acute myeloid leukemia | 2.400 | 4.1e-02 |
| astrocytoma | 1.300 | 6.3e-03 |
| dermatomyositis | 1.800 | 5.6e-04 |
| diabetes mellitus | -1.200 | 1.4e-02 |
| juvenile dermatomyositis | 1.048 | 1.1e-10 |
| lung carcinoma | 1.300 | 3.1e-11 |
| Multiple myeloma | 1.238 | 4.6e-03 |
| osteosarcoma | -1.046 | 1.3e-04 |
| ovarian cancer | 1.500 | 7.9e-04 |
MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGN 1 - 70 LVYVVNYPKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKEYFSTFGEVLMVQVKKDLK 71 - 140 TGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSQDEPLRSRKVFVGRCTEDMTEDELREF 141 - 210 FSQYGDVMDVFIPKPFRAFAFVTFADDQIAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNP 211 - 280 GGFGNQGGFGNSRGGGAGLGNNQGSNMGGGMNFGAFSINPAMMAAAQAALQSSWGMMGMLASQQNQSGPS 281 - 350 GNNQNQGNMQREPNQAFGSGNNSYSGSNSGAAIGWGSASNAGSGSGFNGGFGSSMDSKSSGWGM 351 - 414 //
