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- Table of Contents
1 Citations 6 Q&As
1 Citations
1 Citations
Facts about TAR DNA-binding protein 43.
It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of the exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis.
Human | |
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Gene Name: | TARDBP |
Uniprot: | Q13148 |
Entrez: | 23435 |
Belongs to: |
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No superfamily |
ALS10; ALS10TAR DNA-binding protein-43; TAR DNA binding protein; TARDBP; TDP43; TDP-43; TDP-43TAR DNA-binding protein 43
Mass (kDA):
44.74 kDA
Human | |
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Location: | 1p36.22 |
Sequence: | 1; NC_000001.11 (11012654..11030528) |
Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.
Nucleus. Cytoplasm. Cytoplasm, Stress granule. Continuously travels in and out of the nucleus (PubMed:18957508). Localizes to stress granules in response to oxidative stress (PubMed:19765185).
PMID: 7745706 by Ou S.-H.I., et al. Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs.
PMID: 17481916 by Strong M.J., et al. TDP43 is a human low molecular weight neurofilament (hNFL) mRNA- binding protein.
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