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

Gene ID: 429, updated on 28-Aug-2021

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
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
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Genomic context

See ASCL1 in Genome Data Viewer
Location:
12q23.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (102957674..102960513)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (103351452..103354291)

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

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

Associated conditions

Description Tests
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 musculoskeletal movement, spinal reflex action IEA
Inferred from Electronic Annotation
more info
 
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 negative regulation of transcription, DNA-templated 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
PubMed 
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 neuron migration IEA
Inferred from Electronic Annotation
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 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
PubMed 
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
PubMed 
involved_in regulation of timing of subpallium neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 lithium ion 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
PubMed 
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
PubMed 
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)

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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
    P50553
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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