功能： disease:Defects in TARDBP are a cause of amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of ALS is likely to be multifactorial, involving both genetic and environmental factors. TARDBP is the primary component of ubiquitin-positive inclusion bodies found in ALS and in frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLDU).,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.,PTM:Cleaved to generate C-terminal fragments in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.,PTM:Hyperphosphorylated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.,PTM:Ubiquitinated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.,similarity:Contains 2 RRM (RNA recognition motif) domains.,subcellular location:Eliminated from nuclei of ubiquitinated inclusion-bearing neurons in FTLDU.,subunit:Binds specifically to pyrimidine-rich motifs of TAR DNA and to single stranded TG repeated sequences. Binds to RNA, specifically to UG repeated sequences with a minimun of six contiguous repeats.,tissue specificity:Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus . Cytoplasm . Cytoplasm, Stress granule . Mitochondrion . Continuously travels in and out of the nucleus (PubMed:18957508). Localizes to stress granules in response to oxidative stress (PubMed:19765185). A small subset localizes in mitochondria (PubMed:28794432). .
组织表达： Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.
功能： disease:Defects in TARDBP are a cause of amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of ALS is likely to be multifactorial, involving both genetic and environmental factors. TARDBP is the primary component of ubiquitin-positive inclusion bodies found in ALS and in frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLDU).,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.,PTM:Cleaved to generate C-terminal fragments in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.,PTM:Hyperphosphorylated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.,PTM:Ubiquitinated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.,similarity:Contains 2 RRM (RNA recognition motif) domains.,subcellular location:Eliminated from nuclei of ubiquitinated inclusion-bearing neurons in FTLDU.,subunit:Binds specifically to pyrimidine-rich motifs of TAR DNA and to single stranded TG repeated sequences. Binds to RNA, specifically to UG repeated sequences with a minimun of six contiguous repeats.,tissue specificity:Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus . Cytoplasm . Cytoplasm, Stress granule . Mitochondrion . Continuously travels in and out of the nucleus (PubMed:18957508). Localizes to stress granules in response to oxidative stress (PubMed:19765185). A small subset localizes in mitochondria (PubMed:28794432). .
组织表达： Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.
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