ASCL1

Achaete-scute complex homolog 1 (Drosophila)
Identifiers
Symbols	ASCL1; ASH1; HASH1; MASH1; bHLHa46
External IDs	OMIM: 100790 MGI: 96919 HomoloGene: 31234 GeneCards: ASCL1 Gene
Gene Ontology Molecular function • transcription factor binding transcription factor activity • DNA binding • double-stranded DNA binding • sequence-specific DNA binding transcription factor activity • protein binding • protein homodimerization activity • bHLH transcription factor binding • sequence-specific DNA binding • E-box binding Cellular component • nucleus • neuronal cell body Biological process • neuron migration • noradrenergic neuron fate commitment • transcription, DNA-dependent • Notch signaling pathway • pattern specification process • neuroblast fate determination • neuroblast proliferation • response to lithium ion • oligodendrocyte development • spinal cord association neuron differentiation • spinal cord oligodendrocyte cell fate specification • oligodendrocyte cell fate commitment • forebrain neuron differentiation • cerebral cortex GABAergic interneuron differentiation • central nervous system neuron development • cerebral cortex development • neurogenesis • response to retinoic acid • negative regulation of apoptosis • positive regulation of neuron apoptosis • negative regulation of neuron differentiation • positive regulation of neuron differentiation • positive regulation of Notch signaling pathway • negative regulation of transcription, DNA-dependent • positive regulation of transcription from RNA polymerase II promoter • sympathetic nervous system development • neuron fate specification • positive regulation of neurogenesis • response to folic acid • subpallium neuron fate commitment • regulation of timing of subpallium neuron differentiation • olfactory pit development • lung epithelial cell differentiation • lung neuroendocrine cell differentiation • stomach neuroendocrine cell differentiation • carotid body glomus cell differentiation • adrenal chromaffin cell differentiation • response to epidermal growth factor stimulus • cellular response to magnetism Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	429	17172
Ensembl	ENSG00000139352	ENSMUSG00000020052
UniProt	P50553	Q53WV9
RefSeq (mRNA)	NM_004316	NM_008553.4
RefSeq (protein)	NP_004307	NP_032579.2
Location (UCSC)	Chr 12: 103.35 – 103.35 Mb	Chr 10: 86.95 – 86.96 Mb
PubMed search	[1]	[2]

Achaete-scute homolog 1 is a protein that in humans is encoded by the ASCL1 gene.

This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. It is highly expressed in medullary thyroid cancer and small cell lung cancer and may be a useful marker for these cancers. The presence of a CAG repeat in the gene suggests that it may also play a role in tumor formation.

Interactions

ASCL1 has been shown to interact with Myocyte-specific enhancer factor 2A.

Further reading

• Chen H, Kunnimalaiyaan M, Van Gompel JJ (2006). "Medullary thyroid cancer: the functions of raf-1 and human achaete-scute homologue-1". Thyroid 15 (6): 511–21. doi:10.1089/thy.2005.15.511. PMID 16029117. 
• Renault B, Lieman J, Ward D, et al. (1996). "Localization of the human achaete-scute homolog gene (ASCL1) distal to phenylalanine hydroxylase (PAH) and proximal to tumor rejection antigen (TRA1) on chromosome 12q22-q23". Genomics 30 (1): 81–3. doi:10.1006/geno.1995.0012. PMID 8595908. 
• Mao Z, Nadal-Ginard B (1996). "Functional and physical interactions between mammalian achaete-scute homolog 1 and myocyte enhancer factor 2A". J. Biol. Chem. 271 (24): 14371–5. doi:10.1074/jbc.271.24.14371. PMID 8662987. 
• Borges M, Linnoila RI, van de Velde HJ, et al. (1997). "An achaete-scute homologue essential for neuroendocrine differentiation in the lung". Nature 386 (6627): 852–5. doi:10.1038/386852a0. PMID 9126746. 
• Chen H, Biel MA, Borges MW, et al. (1997). "Tissue-specific expression of human achaete-scute homologue-1 in neuroendocrine tumors: transcriptional regulation by dual inhibitory regions". Cell Growth Differ. 8 (6): 677–86. PMID 9186001. 
• Lo L, Sommer L, Anderson DJ (1997). "MASH1 maintains competence for BMP2-induced neuronal differentiation in post-migratory neural crest cells". Curr. Biol. 7 (6): 440–50. doi:10.1016/S0960-9822(06)00191-6. PMID 9197246. 
• Rozovskaia T, Rozenblatt-Rosen O, Sedkov Y, et al. (2000). "Self-association of the SET domains of human ALL-1 and of Drosophila TRITHORAX and ASH1 proteins". Oncogene 19 (3): 351–7. doi:10.1038/sj.onc.1203307. PMID 10656681. 
• Persson P, Jögi A, Grynfeld A, et al. (2000). "HASH-1 and E2-2 are expressed in human neuroblastoma cells and form a functional complex". Biochem. Biophys. Res. Commun. 274 (1): 22–31. doi:10.1006/bbrc.2000.3090. PMID 10903890. 
• Maxon ME, Herskowitz I (2001). "Ash1p is a site-specific DNA-binding protein that actively represses transcription". Proc. Natl. Acad. Sci. U.S.A. 98 (4): 1495–500. doi:10.1073/pnas.98.4.1495. PMC 29285. PMID 11171979. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=29285. 
• Long RM, Gu W, Meng X, et al. (2001). "An exclusively nuclear RNA-binding protein affects asymmetric localization of ASH1 mRNA and Ash1p in yeast". J. Cell Biol. 153 (2): 307–18. doi:10.1083/jcb.153.2.307. PMC 2169461. PMID 11309412. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2169461. 
• Parras CM, Schuurmans C, Scardigli R, et al. (2002). "Divergent functions of the proneural genes Mash1 and Ngn2 in the specification of neuronal subtype identity". Genes Dev. 16 (3): 324–38. doi:10.1101/gad.940902. PMC 155336. PMID 11825874. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=155336. 
• Sriuranpong V, Borges MW, Strock CL, et al. (2002). "Notch signaling induces rapid degradation of achaete-scute homolog 1". Mol. Cell. Biol. 22 (9): 3129–39. doi:10.1128/MCB.22.9.3129-3139.2002. PMC 133746. PMID 11940670. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=133746. 
• Westerman BA, Neijenhuis S, Poutsma A, et al. (2002). "Quantitative reverse transcription-polymerase chain reaction measurement of HASH1 (ASCL1), a marker for small cell lung carcinomas with neuroendocrine features". Clin. Cancer Res. 8 (4): 1082–6. PMID 11948117. 
• Letinic K, Zoncu R, Rakic P (2002). "Origin of GABAergic neurons in the human neocortex". Nature 417 (6889): 645–9. doi:10.1038/nature00779. PMID 12050665. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• de Pontual L, Népote V, Attié-Bitach T, et al. (2004). "Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)". Hum. Mol. Genet. 12 (23): 3173–80. doi:10.1093/hmg/ddg339. PMID 14532329. 
• Sippel RS, Carpenter JE, Kunnimalaiyaan M, Chen H (2004). "The role of human achaete-scute homolog-1 in medullary thyroid cancer cells". Surgery 134 (6): 866–71; discussion 871–3. doi:10.1016/S0039. PMID 14668716. 
• Ferretti E, Di Stefano D, Zazzeroni F, et al. (2004). "Human pituitary tumours express the bHLH transcription factors NeuroD1 and ASH1". J. Endocrinol. Invest. 26 (10): 957–65. PMID 14759067. 
• Mhawech P, Berczy M, Assaly M, et al. (2004). "Human achaete-scute homologue (hASH1) mRNA level as a diagnostic marker to distinguish esthesioneuroblastoma from poorly differentiated tumors arising in the sinonasal tract". Am. J. Clin. Pathol. 122 (1): 100–5. doi:10.1309/QD0K-9Q1J-BH6B-5GQQ. PMID 15272537. 

External links

• MeSH ASCL1+protein,+human

This article incorporates text from the United States National Library of Medicine, which is in the public domain.