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

Gene ID: 429, updated on 19-Jul-2014
Official Symbol
ASCL1provided by HGNC
Official Full Name
achaete-scute family bHLH transcription factor 1provided by HGNC
Primary source
HGNC:738
See related
Ensembl:ENSG00000139352; HPRD:00011; MIM:100790; Vega:OTTHUMG00000169967
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]
See ASCL1 in Epigenomics, MapViewer
Location:
12q23.2
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (102957674..102960516)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (103351452..103354294)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene phenylalanine hydroxylase Neighboring gene uncharacterized LOC101929036 Neighboring gene uncharacterized LOC101929058 Neighboring gene chromosome 12 open reading frame 42

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Congenital central hypoventilation Compare labs

NHGRI GWAS Catalog

Description
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
NHGRI GWA Catalog
  • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
    Notch-mediated HES/HEY network, organism-specific biosystem
    Notch-mediated HES/HEY network
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
adrenal chromaffin cell differentiation IEA
Inferred from Electronic Annotation
more info
 
carotid body glomus cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cellular response to magnetism IEA
Inferred from Electronic Annotation
more info
 
central nervous system neuron development IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex GABAergic interneuron differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
lung epithelial cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
lung neuroendocrine cell differentiation IEA
Inferred from Electronic Annotation
more info
 
musculoskeletal movement, spinal reflex action IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neuron differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
neuroblast fate determination IEA
Inferred from Electronic Annotation
more info
 
neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
neurogenesis IDA
Inferred from Direct Assay
more info
PubMed 
neuron fate specification IEA
Inferred from Electronic Annotation
more info
 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
noradrenergic neuron development ISS
Inferred from Sequence or Structural Similarity
more info
 
noradrenergic neuron fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
olfactory pit development IEA
Inferred from Electronic Annotation
more info
 
oligodendrocyte development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neural precursor cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of timing of subpallium neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
response to epidermal growth factor IEA
Inferred from Electronic Annotation
more info
 
response to folic acid IEA
Inferred from Electronic Annotation
more info
 
response to lithium ion IEA
Inferred from Electronic Annotation
more info
 
response to retinoic acid IEP
Inferred from Expression Pattern
more info
PubMed 
spinal cord association neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
spinal cord oligodendrocyte cell fate specification IEA
Inferred from Electronic Annotation
more info
 
stomach neuroendocrine cell differentiation IEA
Inferred from Electronic Annotation
more info
 
subpallium neuron fate commitment IEA
Inferred from Electronic Annotation
more info
 
sympathetic ganglion development ISS
Inferred from Sequence or Structural Similarity
more info
 
sympathetic nervous system development NAS
Non-traceable Author Statement
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
ventral spinal cord interneuron fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
vestibular nucleus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
achaete-scute homolog 1
Names
achaete-scute homolog 1
ASH-1
achaete scute protein
achaete-scute complex-like 1
achaete-scute complex homolog 1
class A basic helix-loop-helix protein 46

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 

    Range
    5001..7843
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004316.3NP_004307.2  achaete-scute homolog 1

    See proteins identical to NP_004307.2

    Status: REVIEWED

    Source sequence(s)
    AC026108, AW071836, BC004425, CF454566, DA005289
    Consensus CDS
    CCDS31886.1
    UniProtKB/Swiss-Prot
    P50553
    Related
    ENSP00000266744, OTTHUMP00000242539, ENST00000266744, OTTHUMT00000406707
    Conserved Domains (1) summary
    cd00083
    Location:134174
    Blast Score: 148
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    102957674..102960516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    100410703..100413544
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    103318246..103321086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)