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    ASCL1 achaete-scute family bHLH transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 429, updated on 9-Dec-2024

    Summary

    Official Symbol
    ASCL1provided by HGNC
    Official Full Name
    achaete-scute family bHLH transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:738
    See related
    Ensembl:ENSG00000139352 MIM:100790; AllianceGenome:HGNC:738
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASH1; HASH1; MASH1; bHLHa46
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 6.3), stomach (RPKM 0.9) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ASCL1 in Genome Data Viewer
    Location:
    12q23.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (102957674..102960513)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (102918498..102921335)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (103351452..103354291)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902999 Neighboring gene uncharacterized LOC112267865 Neighboring gene phenylalanine hydroxylase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:103343731-103344658 Neighboring gene VISTA enhancer hs1122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:103351919-103352450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:103352451-103352982 Neighboring gene VISTA enhancer hs1574 Neighboring gene VISTA enhancer hs1114 Neighboring gene VISTA enhancers hs998, hs1354 and hs1540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4776 Neighboring gene chromosome 12 open reading frame 42 Neighboring gene VISTA enhancer hs967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4777 Neighboring gene U7 small nuclear RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6889 Neighboring gene C12orf42 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adrenal chromaffin cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in carotid body glomus cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to magnetism IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebral cortex GABAergic interneuron differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in commitment of neuronal cell to specific neuron type in forebrain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung epithelial cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in lung neuroendocrine cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in musculoskeletal movement, spinal reflex action IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of neuron differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuroblast fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron fate specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in noradrenergic neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in noradrenergic neuron fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in olfactory pit development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oligodendrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peripheral nervous system neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neural precursor cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of timing of subpallium neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to epidermal growth factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to folic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to retinoic acid IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in sensory organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spinal cord association neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spinal cord oligodendrocyte cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in stomach neuroendocrine cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in subpallium neuron fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sympathetic ganglion development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sympathetic nervous system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in ventral spinal cord interneuron fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vestibular nucleus development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    achaete-scute homolog 1
    Names
    ASH-1
    achaete scute protein
    achaete-scute complex homolog 1
    achaete-scute complex-like 1
    class A basic helix-loop-helix protein 46

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008950.1 RefSeqGene

      Range
      5001..7840
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004316.4NP_004307.2  achaete-scute homolog 1

      See identical proteins and their annotated locations for NP_004307.2

      Status: REVIEWED

      Source sequence(s)
      AC026108, AW071836, BC004425, CF454566, DA005289
      Consensus CDS
      CCDS31886.1
      UniProtKB/Swiss-Prot
      A8K3C4, P50553, Q9BQ30
      Related
      ENSP00000266744.3, ENST00000266744.4
      Conserved Domains (1) summary
      cd19742
      Location:115185
      bHLH_TS_ASCL1_Mash1; basic helix-loop-helix (bHLH) domain found in achaete-scute-like protein 1 (ASCL-1) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      102957674..102960513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      102918498..102921335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)