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

Gene ID: 429, updated on 8-Jul-2018
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; 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]
Expression
Biased expression in brain (RPKM 6.3), stomach (RPKM 0.9) and 1 other tissue See more
Orthologs
See ASCL1 in Genome Data Viewer
Location:
12q23.2
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 LOC112267865 Neighboring gene VISTA enhancer hs1122 Neighboring gene VISTA enhancer hs1574 Neighboring gene VISTA enhancer hs1114

  • 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 Jun 15 11:32:44 2016

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
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
 
CONTRIBUTES_TO DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin 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
 
transcription factor activity, transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
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
 
cell maturation 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
 
commitment of neuronal cell to specific neuron type in forebrain 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 by RNA polymerase II 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 development ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron fate specification ISS
Inferred from Sequence or Structural Similarity
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 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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of timing of subpallium neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
RNA polymerase II transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
ASH-1
achaete scute protein
achaete-scute complex homolog 1
achaete-scute complex-like 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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_004316.3NP_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
    P50553
    Related
    ENSP00000266744.3, OTTHUMP00000242539, ENST00000266744.3, OTTHUMT00000406707
    Conserved Domains (1) summary
    smart00353
    Location:134176
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

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