| Full protein name | TAR DNA-binding protein 43 |
| Gene name | TARDBP;TDP43 |
| Species | Homo sapiens |
| Localization | Nucleus. |
| Description | 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. TDP-43 is a primarily nuclear protein that shuttles between the nucleus and the cytoplasm, and plays a role in mRNA transport, transcriptional repression, splicing regulation, miRNA biogenesis, stress granule formation, and the stabilization of long intron-containing RNA and long noncoding RNA. Secondary structure prediction for the TDP-43 CTD is disordered except for an a-helical segment (321–330). |
| GO term | GO:0003690; double-stranded DNA binding; IDA:BHF-UCL. GO:0042802; identical protein binding; IPI:IntAct. GO:0003730; mRNA 3'-UTR binding; IDA:BHF-UCL. GO:0097157; pre-mRNA intronic binding; IEA:Ensembl. GO:0003723; RNA binding; IDA:BHF-UCL. GO:0000978; RNA polymerase II cis-regulatory region sequence-specific DNA binding; IEA:Ensembl. |
| Full sequence length | 414 |
| Database linked | MobiDB :Q13148 DisProt :DP01108 AmyPro :AP00077 OMIM :605078 |
| IDR Region | 1 414 |
| LCR Region | 1 414 |