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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.
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.
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.
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.
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.
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.
Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ASCL1: RNA tissue enhanced (brain 16 nTPM, liver 10 nTPM, pituitary gland 28 nTPM); high antibody staining in 3 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)
Sources: Human Protein Atlas ASCL1 tissue; Open Targets ENSG00000139352 associations
First described 1993. Earliest sequence paper UniProt cites for the protein: Ball D.W. et al, Proc. Natl. Acad. Sci. U.S.A, 1993, "Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors". Source.
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))
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).
RNA: tissue enhanced (brain 16 nTPM, liver 10 nTPM, pituitary gland 28 nTPM), detected in some normal tissues.
Medium: Caudate.
RNA group enriched: Glioblastoma Multiforme 36 pTPM, Lung Adenocarcinoma 22 pTPM.
No cancer stained high; medium in glioma.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
It offers the first credible explanation for why only a minority of small-cell patients get a durable benefit from checkpoint blockade, and it introduces subtype switching, which would mean retesting at relapse rather than typing once.
It is the reality check on the subtype model and it has a direct consequence for treatment: the DLL3-directed medicines are aimed at the neuroendocrine-high subtypes, and the POU2F3 and double-negative tumours will not express the target.
It gives the field a vocabulary for the states between androgen receptor-driven adenocarcinoma and small cell carcinoma, which matters because those in-between tumours are the ones most likely to be mismanaged as ordinary castration-resistant disease.
The organising framework for every small-cell lung cancer trial designed since. It is also why the slow progress in the disease is now attributed to treating four diseases as one rather than to the biology being intractable.
Query 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.
Shares SCLC subtypes defined by ASCL1, NEUROD1, POU2F3, and YAP1: a comprehensive immunohistochemical and histopathologic characterization, Patterns of transcription factor programs and immune pathway activation define four major subtypes of SCLC with distinct therapeutic vulnerabilities, Molecular subtypes of small cell lung cancer: a synthesis of human and mouse model data, Lineage plasticity & neuroendocrine transformation.
Shares SCLC subtypes defined by ASCL1, NEUROD1, POU2F3, and YAP1: a comprehensive immunohistochemical and histopathologic characterization, Molecular subtypes of small cell lung cancer: a synthesis of human and mouse model data, Small-cell lung cancer.
Shares SCLC subtypes defined by ASCL1, NEUROD1, POU2F3, and YAP1: a comprehensive immunohistochemical and histopathologic characterization, Molecular subtypes of small cell lung cancer: a synthesis of human and mouse model data, Small-cell lung cancer.
Shares SCLC subtypes defined by ASCL1, NEUROD1, POU2F3, and YAP1: a comprehensive immunohistochemical and histopathologic characterization, Patterns of transcription factor programs and immune pathway activation define four major subtypes of SCLC with distinct therapeutic vulnerabilities, Molecular subtypes of small cell lung cancer: a synthesis of human and mouse model data, Transcriptional machinery & addiction.
Shares Molecular subtypes of small cell lung cancer: a synthesis of human and mouse model data, CIViC.
Shares Patterns of transcription factor programs and immune pathway activation define four major subtypes of SCLC with distinct therapeutic vulnerabilities, CIViC.
Shares Transcriptional machinery & addiction, Lineage plasticity & neuroendocrine transformation.