Aliases for TARDBP Gene
External Ids for TARDBP Gene
Previous GeneCards Identifiers for TARDBP Gene
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]
GeneCards Summary for TARDBP Gene
TARDBP (TAR DNA Binding Protein) is a Protein Coding gene. Diseases associated with TARDBP include Amyotrophic Lateral Sclerosis 10, With Or Without Ftd and Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1. Among its related pathways are Neuroscience. GO annotations related to this gene include nucleic acid binding and transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is ENSG00000277726.
UniProtKB/Swiss-Prot for TARDBP Gene
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.