NP_004307.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
25,454 Da
NCBI Official Full Name
achaete-scute homolog 1
NCBI Official Synonym Full Names
achaete-scute family bHLH transcription factor 1
NCBI Protein Information
achaete-scute homolog 1
UniProt Protein Name
Achaete-scute homolog 1
UniProt Synonym Protein Names
Class A basic helix-loop-helix protein 46; bHLHa46
UniProt Synonym Gene Names
UniProt Entry Name
ASCL1_HUMAN
NCBI Summary for ASCL1
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. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]
UniProt Comments for ASCL1
ASCL1: Transcriptional regulator. May play 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. Involved in the initiation of neuronal differentiation. Mediates transcription activation by binding to the E box (5'-CANNTG-3').
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 12q23.2
Cellular Component: cell soma; nucleus
Molecular Function: bHLH transcription factor binding; chromatin binding; DNA binding; protein binding; protein homodimerization activity; transcription factor activity
Biological Process: cell maturation; central nervous system neuron development; cerebral cortex development; cerebral cortex GABAergic interneuron differentiation; commitment of a neuronal cell to a specific type of neuron in the forebrain; musculoskeletal movement, spinal reflex action; negative regulation of apoptosis; negative regulation of neuron differentiation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; neuroblast fate determination; neuroblast proliferation; neurogenesis; neuron fate specification; neuron migration; Notch signaling pathway; olfactory pit development; oligodendrocyte development; positive regulation of cell cycle; positive regulation of neuron apoptosis; positive regulation of neuron differentiation; positive regulation of Notch signaling pathway; positive regulation of transcription from RNA polymerase II promoter; regulation of epithelial cell differentiation; regulation of gene expression; regulation of mitotic cell cycle; regulation of timing of subpallium neuron differentiation; response to folic acid; response to lithium ion; response to retinoic acid; spinal cord association neuron differentiation; spinal cord oligodendrocyte cell fate specification; subpallium neuron fate commitment; sympathetic nervous system development; transcription, DNA-dependent; vestibular nucleus development
Disease: Central Hypoventilation Syndrome, Congenital
Research Articles on ASCL1
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Products associated with ASCL1 elisa kit
Pathways associated with ASCL1 elisa kit
Diseases associated with ASCL1 elisa kit
Organs/Tissues associated with ASCL1 elisa kit
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