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Symbol ASCL1 contributors: mct/npt/pgu - updated : 06-05-2015
HGNC name achaete-scute complex homolog 1 (Drosophila)
HGNC id 738
Corresponding disease
CCHS4 congenital central hypoventilation syndrome 4
Location 12q23.2      Physical location : 103.351.451 - 103.354.287
Synonym name
  • achaete-scute complex-like 1 (Drosophila)
  • achaete-scute complex (Drosophila) homolog-like 1
  • Drosophila discs absent, small, or homeotic-1 homolog
  • achaete-scute homolog 1
  • class A basic helix-loop-helix protein 46
  • Synonym symbol(s) ASH1, HASH1, MASH1, LACS, LACS2, FACL1, FACL2, bHLHa46
    TYPE functioning gene
    STRUCTURE 2.84 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D12S1103 - IGF1 ,D12S318 - D12S1030 - PAH - ASCL1 - D12S1104 - D12S815 - D12S1105 - D12S360 - TRA1 - D12S806 - D12S78 - qter
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2490 25 236 - 2010 20097173
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Digestiveliver   highly
    Respiratorylung   highly
    Visualeyeretina    Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage present in proliferating progenitor cells but these cells are actively differentiating as evidenced by rapid migration out of germinal zones
    cell lines
    at STAGE
    physiological period embryo
    Text embryonic neuronal precursors of both the peripheral and central nervous systems
  • the N terminus
  • one basic helix-loop-helix (HLH) domain
  • two domains similar to those in enzymes of the luciferase family
  • a long gap region between the similar domains and the C terminus
    interspecies homolog to Drosophila achaete-scute 1
    ortholog to murine Mash1 (90 pc)
  • basic helix-loop-helix (BHLH) family of transcription factors
  • long-chain fatty-acid-coenzyme A ligase family
  • ATP-dependent AMP-binding enzyme family
  • CATEGORY enzyme , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • playing a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons
  • converting free long-chain fatty acids into fatty acyl-CoA esters
  • playing a role in lipid brosynthesis and fatty acid degradation
  • using preferentially oleate, arachidonate, eicosapentaenoate and docosahexaenoate as substrates
  • involved in the formation of the neuronal network for autonomous control of ventilation
  • proneural basic helix-loop-helix (bHLH) transcription factors not only initiating neuronal differentiation but also potentiating cell migration
  • promote branchiomotor neuron development but also regulate the subsequent oligodendrocyte development and the cytoarchitecture by maintaining neural progenitors through Notch signaling
  • required for normal development of POMC(+) neurons and both required for the generation of ventral neuroendocrine neurons as well as playing a central role in subtype specification of these neurons
  • controls development of the locus coeruleus
  • proneural basic helix–loop–helix transcriptional factor that plays an essential role during neuronal specification of precursor cells
  • bHLH transcription factor essential for neuronal differentiation and specification in the nervous system
  • required for normal development of the nervous system and has been implicated in the formation of neuroendocrine tumors
  • NEUROG2 and ASCL1 regulate the temporal progression of retinal neurogenesis by directing overlapping waves of neuron formation
  • required for neurogenesis and neuronal subtype specification in the ventral hypothalamus
  • ASCL1 lineage cells contribute to stroke-induced neurogenesis and oligodendrogenesis in the adult ischemic brain
  • its expression defines a competence-restricted progenitor lineage in the retina, providing a new mechanism to explain fate diversification
  • plays a specific role during the time period when Pcs (Purkinje cells) are generated in restricting ventricular zone progenitors from becoming rhombic lip progenitors
  • combined activity of two distinct BHLH factors (ASCL1 and HELT) plays likely a key role in the development of discrete classes of thalamic interneurons
  • ASCL1 and HELT factors cooperate synergistically in midbrain GABAergic neurogenesis
  • CELLULAR PROCESS nucleotide, transcription
    metabolism lipid/lipoprotein
    lipid metabolism
    a component
    small molecule metal binding, cofactor,
  • Mg2+
  • AMP
  • protein
  • interacts with UBQLN1
  • downstream target of FMR1 (improved translation efficiency of ASCL1 mRNA by FMR1 may represent an important regulatory switch in neuronal differentiation)
  • GADD45G is a direct transcriptional target of ASCL1
  • HAND2 can activate the sympathetic nervous system (SNS) differentiation program by induction of SNS-related genes, including PHOX2B, ASCL1, DBH and TH
  • transcriptional complex of LMO3 and NHLH2 may contribute to the genesis and malignant phenotype of neuroblastoma by inhibiting HES1 which suppresses the transactivation of ASCL1
  • overexpression of DMRTA1 induced the expression of the proneural gene Neurogenin2 (NEUROG2) and conversely repressed ASCL1, a proneural gene expressed in the ventral telencephalon
  • inhibits ASCL1-dependent neurogenesis in neural progenitor cells (NPCs) and direct neuronal conversion in fibroblasts
  • GABAergic inducing activity of ASCL1 requires the direct transcriptional regulation of PTF1A, providing therefore a new piece of the network governing neurotransmitter subtype specification during retinogenesis
  • cell & other
    inhibited by NEUROG2 and ASCL1 are inhibited by CBFA2T2 and CBFA2T3, and less efficiently by RUNX1T1
    Other downregulated in differentiating neuroblastoma cells
    corresponding disease(s) CCHS4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in differentiating neuroblastoma cells
    tumoral     --over  
    in a majority of neuroblastoma tumors and cell lines
    tumoral     --over  
    in progressive astrocytoma in 85.71 p100 of grade II diffuse astrocytoma, 90 p100 of grade III anaplastic astrocytoma
    tumoral     --over  
    87.5 p100 of secondary glioblastoma multiforme
    results in hypoplasia of both the arcuate and ventromedial nuclei
    tumoral     --other  
    constitutive expression in lung epithelium promotes remodeling through multiple pathways that are commonly activated during lung carcinogenesis
    Susceptibility to Parkinson disease (in association with PHOX2B)
    Variant & Polymorphism repeat polyglutamine length variant with 13 repeats may exert a protective role for Parkinson disease in a Caucasian population
    Candidate gene for congenital hypoventilation syndrome (CCHS4) or modifier of PHOX2B
    Therapy target
  • In Mash1-deficient mice, defects in thalamocortical axon pathfinding were found to be correlated with altered cell domain
  • mice lacking Ascl1 in the cerebellum have a major decrease in three types of interneurons with a tendency toward a loss of later-born interneurons, as well as an imbalance of oligodendrocytes and astrocytes