| Name | SETBP1 divergent transcript |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe curated collection of studies highlights critical roles for neuronal intermediate filament proteins—such as neurofilament light (NF‐L), medium, and heavy subunits, along with related proteins like α‐internexin—in maintaining cytoskeletal integrity, regulating axonal transport, and modulating synaptic stability in both normal development and neurodegenerative conditions. For example, several investigations demonstrate that intricate interdependencies among neurofilament subunits are essential for proper polymer assembly and axonal distribution, while disruptions (by genetic deletion or mutation) lead to compromised filament transport, altered organelle dynamics, and ultimately neuronal degeneration."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional studies extend these findings by linking neurofilament dysregulation to axonal and synaptic pathologies observed in models of motor neuron disease, Charcot‐Marie‐Tooth disease, amyotrophic lateral sclerosis, and Huntington’s disease. These reports detail mechanisms by which mutant proteins (including aberrant NF‐L variants) and oxidative modifications lead to protein aggregation, disruption of microtubule dynamics, and defective synaptic remodeling; moreover, they underscore how cytoskeletal disturbances can cascade to affect mitochondrial function and intracellular trafficking."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nNotably, while these abstracts provide extensive insight into neurofilament-associated mechanisms in neuronal function and disease, none of them explicitly mention or characterize the function of SETBP1-DT. There is no direct evidence in the provided literature linking SETBP1-DT to the regulation of neurofilament expression, assembly, or turnover. Thus, despite the complex interplay of cytoskeletal regulation detailed across these studies"}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "11", "end_ref": "13"}]}, {"type": "t", "text": ", the specific role of SETBP1-DT remains unaddressed. Given the emerging recognition of long noncoding RNAs as modulators of gene expression in neuronal contexts, future focused studies will be required to ascertain whether SETBP1-DT plays a role—direct or indirect—in these neurofilament-dependent processes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "14", "end_ref": "16"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Zhenying Nie, Junhua Wu, Jinbin Zhai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Untranslated element in neurofilament mRNA has neuropathic effect on motor neurons of transgenic mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2002)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12196589"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12196589"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Hong Lin, Jinbin Zhai, Rafaela Cañete-Soler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "3' untranslated region in a light neurofilament (NF-L) mRNA triggers aggregation of NF-L and mutant superoxide dismutase 1 proteins in neuronal cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.5689-03.2004"}], "href": "https://doi.org/10.1523/JNEUROSCI.5689-03.2004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15028764"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15028764"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Hong Lin, Jinbin Zhai, William W Schlaepfer "}, {"type": "b", "children": [{"type": "t", "text": "RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddi392"}], "href": "https://doi.org/10.1093/hmg/ddi392"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16236762"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16236762"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Aidong Yuan, Mala V Rao, Takahiro Sasaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alpha-internexin is structurally and functionally associated with the neurofilament triplet proteins in the mature CNS."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.2580-06.2006"}], "href": "https://doi.org/10.1523/JNEUROSCI.2580-06.2006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17005864"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17005864"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jinbin Zhai, Hong Lin, Jean-Pierre Julien, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddm272"}], "href": "https://doi.org/10.1093/hmg/ddm272"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17881652"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17881652"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "T Fiordelisio, N Jiménez, S Baba, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Neuronal differentiation is regulated by leucine-rich acidic nuclear protein (LANP), a member of the inhibitor of histone acetyltransferase complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M806150200"}], "href": "https://doi.org/10.1074/jbc.M806150200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19136565"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19136565"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Katie Moisse, Jennifer Mepham, Kathryn Volkening, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cytosolic TDP-43 expression following axotomy is associated with caspase 3 activation in NFL-/- mice: support for a role for TDP-43 in the physiological response to neuronal injury."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Res (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.brainres.2009.07.023"}], "href": "https://doi.org/10.1016/j.brainres.2009.07.023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19619516"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19619516"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Mala V Rao, Panaiyur S Mohan, Asok Kumar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The myosin Va head domain binds to the neurofilament-L rod and modulates endoplasmic reticulum (ER) content and distribution within axons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0017087"}], "href": "https://doi.org/10.1371/journal.pone.0017087"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21359212"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21359212"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Benoit J Gentil, Sandra Minotti, Madeleine Beange, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Oxidative modification of neurofilament-L and neuronal cell death induced by the catechol neurotoxin, tetrahydropapaveroline."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Toxicol Lett (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.toxlet.2012.11.029"}], "href": "https://doi.org/10.1016/j.toxlet.2012.11.029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23228886"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23228886"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Sarah L Roche, Diane L Sherman, Kosala Dissanayake, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of glial neurofascin155 delays developmental synapse elimination at the neuromuscular junction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.1725-14.2014"}], "href": "https://doi.org/10.1523/JNEUROSCI.1725-14.2014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25232125"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25232125"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Adijat A Adebola, Theo Di Castri, Chui-Zhen He, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Neurofilament light gene deletion exacerbates amyloid, dystrophic neurite, and synaptic pathology in the APP/PS1 transgenic model of Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Aging (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neurobiolaging.2015.07.003"}], "href": "https://doi.org/10.1016/j.neurobiolaging.2015.07.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26344875"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26344875"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Rana Soylu-Kucharz, Åsa Sandelius, Marie Sjögren, et al. 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| NCBI Gene ID | 101927943 |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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SETBP1-DT has 2 functional associations with biological entities spanning 1 categories (cell line, cell type or tissue) extracted from 1 datasets.
Click the + buttons to view associations for SETBP1-DT from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of SETBP1-DT gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |