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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
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:87326681-87329522 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 10, 43.64 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    9 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96919
protein coding gene Chr10:87326681-87329522 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017618
protein coding gene Chr10:88513938-88516779 (-)
A/J MGP_AJ_G0017597
protein coding gene Chr10:85557588-85560431 (-)
AKR/J MGP_AKRJ_G0017555
protein coding gene Chr10:87969339-87972182 (-)
BALB/cJ MGP_BALBcJ_G0017560
protein coding gene Chr10:85828092-85830935 (-)
C3H/HeJ MGP_C3HHeJ_G0017383
protein coding gene Chr10:87962284-87965127 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018017
protein coding gene Chr10:91499229-91502070 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015699
protein coding gene Chr10:81334608-81337472 (-)
CAST/EiJ MGP_CASTEiJ_G0016948
protein coding gene Chr10:87851663-87854621 (-)
CBA/J MGP_CBAJ_G0017352
protein coding gene Chr10:95278826-95281669 (-)
DBA/2J MGP_DBA2J_G0017458
protein coding gene Chr10:84673629-84676472 (-)
FVB/NJ MGP_FVBNJ_G0017450
protein coding gene Chr10:83909003-83911867 (-)
LP/J MGP_LPJ_G0017532
protein coding gene Chr10:89198905-89201746 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017481
protein coding gene Chr10:96813900-96816743 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018054
protein coding gene Chr10:87807289-87810133 (-)
PWK/PhJ MGP_PWKPhJ_G0016729
protein coding gene Chr10:84672750-84675718 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016517
protein coding gene Chr10:86523401-86526275 (-)
WSB/EiJ MGP_WSBEiJ_G0017007
protein coding gene Chr10:87773092-87775936 (-)



Homology
more
  • Human Ortholog
    ASCL1, achaete-scute family bHLH transcription factor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASCL1, achaete-scute family bHLH transcription factor 1
  • Synonyms
    ASH1, bHLHa46, HASH1, MASH1
  • Links
    NCBI Gene ID: 429
    neXtProt AC: NX_P50553
    UniProt: P50553

  • Chr Location
    12q23.2; chr12:102957674-102960513 (+)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 4 alleles in 7 genetic backgrounds
    35 phenotypes from multigenic genotypes
    212 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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17172 NCBI Gene Model | MGI Sequence Detail 2842 C57BL/6J ±  kb
    transcript NM_008553 RefSeq | MGI Sequence Detail 2490 C57BL/6  
    polypeptide Q02067 UniProt | EBI | MGI Sequence Detail 231 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 98
      Genomic 2
      cDNA 56
      Primer pair 9
      Other 31

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-12119, MGI:2143541
    References
    more
    • Summaries
      All 783
      Developmental Gene Expression 598
      Gene Ontology 48
      Phenotypes 212
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:345248 Tran HN, et al., Dbx1 is a dorsal midbrain-specific determinant of GABAergic neuron fate and regulates differentiation of the dorsal midbrain into the inferior and superior colliculi. Front Cell Dev Biol. 2024;12:1336308

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory