TARDBP Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
TARDBP
Official Name
TAR DNA binding protein [Source:HGNC Symbol;Acc:HGNC:11571]
Ensembl ID
ENSG00000120948
Bio databases IDs NCBI: 23435 Ensembl: ENSG00000120948
Aliases TAR DNA binding protein
Synonyms 1190002A23Rik, AF311304, ALS10, Tadbp, TAR DNA binding protein, TAR DNA-binding protein-43, TDP-43
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TARDBP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • glycine rich domain
  • RNA recognition motif (RRM) superfamily
  • transcription regulator
  • lipid binding
  • RNA recognition motif
  • nucleic acid binding
  • protein binding activity, bridging
  • caspase cleavage site
  • nuclear localization sequence
  • protein binding
  • ubiquitin-like domain
  • sequence-specific DNA binding
  • identical protein binding
  • DNA binding
  • RNA binding
  • beta strand or sheet
  • mRNA 3' UTR binding
  • N-terminal domain of transactive response DNA-binding protein 43
  • double-stranded DNA binding

Pathways

Biological processes and signaling networks where the TARDBP gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • cognitive impairment
  • paralysis
  • weight loss
  • gait disturbance
  • motor dysfunction
  • amyotrophic lateral sclerosis 10
  • familial amyotrophic lateral sclerosis
  • TARDBP -related frontotemporal dementia with TDP43 inclusions
  • mild cognitive impairment
  • Alexander disease
regulated by
role in cell
  • activation
  • production in
  • proliferation
  • loss
  • cytotoxicity
  • number
  • expression in
  • upregulation in
  • quantity
  • apoptosis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • interchromatin granule cluster fractions
  • nuclear chromatin
  • organelle
  • Cytoplasm
  • vesicles
  • Mitochondria
  • granules
  • cytosol
  • interchromatin granules
  • nucleoplasm
  • nucleoli
  • nuclear rim
  • nuclear speckles
  • detergent-soluble fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TARDBP gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation by host of viral transcription
  • 3'-UTR-mediated mRNA stabilization
  • positive regulation of protein import into nucleus
  • RNA splicing
  • 3'-UTR-mediated mRNA destabilization
  • regulation of apoptotic process
  • mRNA processing
  • regulation of circadian rhythm
  • negative regulation of gene expression
  • regulation of protein stability
  • rhythmic process
  • negative regulation of protein phosphorylation
  • nuclear inner membrane organization
  • regulation of gene expression
  • positive regulation of insulin secretion
  • regulation of cell cycle
  • response to endoplasmic reticulum stress

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • cytoplasmic stress granule
  • perichromatin fibrils
  • nuclear speck
  • mitochondrion
  • intracellular non-membrane-bounded organelle
  • interchromatin granule
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • DNA binding
  • pre-mRNA intronic binding
  • identical protein binding
  • protein binding
  • RNA binding
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • double-stranded DNA binding
  • lipid binding
  • mRNA 3'-UTR binding

Gene-Specific Assays for Results You Can Trust

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