ASCL1

Achaete-scute complex homolog 1 (Drosophila)
Identifiers
Symbols	ASCL1 ; ASH1; HASH1; MASH1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 31234
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Achaete-scute complex homolog 1 (Drosophila), also known as ASCL1, is a human 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.

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.CS1 maint: Multiple names: authors list (link)
• Ball DW, Azzoli CG, Baylin SB; et al. (1993). "Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors". Proc. Natl. Acad. Sci. U.S.A. 90 (12): 5648–52. PMID 8390674.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9197246.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11171979.
• 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. PMID 11309412.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11825874.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11940670.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• ASCL1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

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