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Ascl1 Gene Detail
Summary
  • Symbol
    Ascl1
  • Name
    achaete-scute family bHLH transcription factor 1
  • Synonyms
    ASH1, bHLHa46, Mash1
  • Feature Type
    protein coding gene
  • IDs
    MGI:96919
    NCBI Gene: 17172
  • Gene Overview
    MyGene.info: ASCL1
Location & Maps
more
  • Sequence Map
    Chr10:87490819-87493660 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2842 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 43.64 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    ASCL1, achaete-scute family bHLH transcription factor 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ASCL1, achaete-scute family bHLH transcription factor 1
    Orthology source: HomoloGene
  • Synonyms
    ASH1, bHLHa46, HASH1, MASH1
  • Links
    NCBI Gene ID: 429
    neXtProt AC: NX_P50553

  • Chr Location
    12q23.2; chr12:102957674-102960516 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ASCL1 associations

Human Disease Mouse Models
       Central Hypoventilation Syndrome, Congenital; CCHS   OMIM: 209880
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 5 alleles in 7 genetic backgrounds
    26 phenotypes from multigenic genotypes
    133 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    1
  • Targeted
    8
  • Genomic Mutations
    1 involving Ascl1
Homozygous null mutants show impaired development of olfactory, sympathetic, parasympathetic, and enteric ganglia, lung neuroendocrine and adrenal chromaffin cells, and various brain centers, and die at birth with feeding and breathing problems.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024442 VEGA Gene Model | MGI Sequence Detail 2842 C57BL/6J ±  kb
transcript OTTMUST00000059929 VEGA | MGI Sequence Detail 2481 Not Applicable  
polypeptide OTTMUSP00000029198 VEGA | MGI Sequence Detail 231 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    9 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000004362 achaete-scute homolog 1
  • InterPro Domains
    IPR015660 Achaete-scute transcription factor-related
    IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Molecular
Reagents
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  • All nucleic 67
    Genomic 2
    cDNA 46
    Primer pair 3
    Other 16

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-12119, MGI:2143541
References
more
  • Summaries
    All 533
    Developmental Gene Expression 430
    Gene Ontology 48
    Phenotypes 133
  • Earliest
    J:36275 Lo LC, et al., Mammalian achaete-scute homolog 1 is transiently expressed by spatially restricted subsets of early neuroepithelial and neural crest cells. Genes Dev. 1991 Sep;5(9):1524-37
  • Latest
    J:233820 Urban N, et al., Return to quiescence of mouse neural stem cells by degradation of a proactivation protein. Science. 2016 Jul 15;353(6296):292-5

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory