DISEASES

Disease-gene associations mined from literature

Literature associating TARDBP and amyotrophic lateral sclerosis

TARDBP [ENSP00000240185]

TAR DNA-binding protein 43; RNA-binding protein that is involved in various steps of RNA biogenesis and processing . Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs . In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases . Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondrial transcripts . Regulates also mRNA stability by recruiting CNOT7/CAF1 deadenylase on mRNA 3'UTR leading to poly(A) tail deadenylation and thus shortening . In response to oxidative insult, associates with stalled ribosomes localized to stress granules (SGs) and contributes to cell survival (PubMed:23398327, PubMed:19765185). Participates also in the normal skeletal muscle formation and regeneration, forming cytoplasmic myo-granules and binding mRNAs that encode sarcomeric proteins . Plays a role in the maintenance of the circadian clock periodicity via stabilization of the CRY1 and CRY2 proteins in a FBXL3-dependent manner . ECO:0000269|PubMed:17481916, ECO:0000269|PubMed:19765185, ECO:0000269|PubMed:21358640, ECO:0000269|PubMed:23398327, ECO:0000269|PubMed:23519609, ECO:0000269|PubMed:24240615, ECO:0000269|PubMed:24464995, ECO:0000269|PubMed:27123980, ECO:0000269|PubMed:28794432, ECO:0000269|PubMed:29438978,

Synonyms:  TARDBP,  A0A024R4E2,  A0A087WTG4,  A0A087WV68,  A0A087WVX6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM