InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TARDBP

Summary

InnateDB Protein

IDBP-89125.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TARDBP

Protein Name

TAR DNA binding protein

Synonyms

ALS10; TDP-43;

Species

Homo sapiens

Ensembl Protein

ENSP00000240185

InnateDB Gene

IDBG-89123 (TARDBP)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:11285240, ECO:0000269PubMed:17481916}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:17023659, ECO:0000269PubMed:17481916}. Note=In patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis, it is absent from the nucleus of affected neurons but it is the primary component of cytoplasmic ubiquitin-positive inclusion bodies.

Disease Associations

Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269PubMed:18288693, ECO:0000269PubMed:18309045, ECO:0000269PubMed:18372902, ECO:0000269PubMed:18396105, ECO:0000269PubMed:18438952, ECO:0000269PubMed:19224587, ECO:0000269PubMed:19695877, ECO:0000269PubMed:21220647, ECO:0000269PubMed:21418058, ECO:0000269PubMed:22456481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 311 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	311 [view]
Protein-Protein	311 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0001205	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003676	nucleic acid binding
GO:0003690	double-stranded DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003723	RNA binding
GO:0003730	mRNA 3'-UTR binding
GO:0005515	protein binding
GO:0042802	identical protein binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0006397	mRNA processing
GO:0008219	cell death
GO:0008380	RNA splicing
GO:0043922	negative regulation by host of viral transcription
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0070935	3'-UTR-mediated mRNA stabilization