TDP-43 / TARDBP Antibody – Mouse Monoclonal

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]

TARDBP: 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. Homodimer. Binds specifically to pyrimidine-rich motifs of TAR DNA and to single stranded TG repeated sequences. Binds to RNA, specifically to UG repeated sequences with a minimun of six contiguous repeats. Interacts with ATNX2; the interaction is RNA-dependent. Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: RNA-binding

Chromosomal Location of Human Ortholog: 1p36.22

Cellular Component: cytoplasm; nuclear speck; nucleoplasm; nucleus; perichromatin fibrils

Molecular Function: double-stranded DNA binding; identical protein binding; mRNA 3'-UTR binding; nucleotide binding; protein binding; RNA binding; transcription factor activity

Biological Process: mRNA processing; negative regulation of protein amino acid phosphorylation; nuclear fragmentation during apoptosis; positive regulation of insulin secretion; positive regulation of transcription from RNA polymerase II promoter; regulation of cell cycle; RNA splicing; transcription from RNA polymerase II promoter

Disease: Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia