ASCL1
ASCL1 (Achaete-scute homolog 1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Atypical teratoid/rhabdoid tumour.
Overview
Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro.
CIViC holds 1 clinical evidence item and 0 assertions across 1 variant.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · ASCL1 (Achaete-scute homolog 1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Atypical teratoid/rhabdoid tumour.
- 1 · What it is
ASCL1 (Achaete-scute homolog 1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Atypical teratoid/rhabdoid tumour.
- 2 · What goes wrong in cancer
Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways.
- 3 · How drugs use it
No product in this corpus aims at ASCL1 yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
External identifiers
Sources: HGNC HGNC:738 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P50553 (protein name, function text, keywords and locations (REST API)); CIViC gene ASCL1 (1 evidence items, 0 assertions, 1 variants; diseases: Atypical Teratoid Rhabdoid Tumour (GraphQL API, CC0))
Biology
Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic neurons. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signalling activation. Location: Nucleus (UniProt). Locus 12q23.2 (HGNC).
- Atypical teratoid/rhabdoid tumour: CIViC evidence names this disease
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"ASCL1" OR ABSTRACT:"ASCL1" OR TITLE:"achaete-scute family bHLH transcription factor 1" OR ABSTRACT:"achaete-scute family bHLH transcription factor 1" OR TITLE:"Achaete-scute homolog 1" OR ABSTRACT:"Achaete-scute homolog 1" OR TITLE:"ASH1" OR ABSTRACT:"ASH1" OR TITLE:"HASH1" OR ABSTRACT:"HASH1" OR TITLE:"bHLHa46" OR ABSTRACT:"bHLHa46") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about ASCL1, not a curated reading list.
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