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Aliases for ASCL1 Gene

Aliases for ASCL1 Gene

  • Achaete-Scute Family BHLH Transcription Factor 1 2 3 5
  • Class A Basic Helix-Loop-Helix Protein 46 3 4
  • BHLHa46 3 4
  • ASH-1 3 4
  • HASH1 3 4
  • ASH1 3 4
  • Achaete-Scute Complex (Drosophila) Homolog-Like 1 2
  • Achaete-Scute Complex Homolog 1 (Drosophila) 2
  • Achaete-Scute Complex-Like 1 (Drosophila) 2
  • Achaete-Scute Complex Homolog 1 3
  • Achaete-Scute Complex-Like 1 3
  • Achaete-Scute Homolog 1 3
  • Achaete Scute Protein 3
  • MASH1 3

External Ids for ASCL1 Gene

Previous GeneCards Identifiers for ASCL1 Gene

  • GC12P102450
  • GC12P103310
  • GC12P101854
  • GC12P101855
  • GC12P101856
  • GC12P101875
  • GC12P100410
  • GC12P103352

Summaries for ASCL1 Gene

Entrez Gene Summary for ASCL1 Gene

  • 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]

GeneCards Summary for ASCL1 Gene

ASCL1 (Achaete-Scute Family BHLH Transcription Factor 1) is a Protein Coding gene. Diseases associated with ASCL1 include Central Hypoventilation Syndrome, Congenital and Differentiating Neuroblastoma. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is ASCL2.

UniProtKB/Swiss-Prot for ASCL1 Gene

  • Transcription factor that controls transcriptional expression of its target genes by binding to the E box (5-CANNTG-3). Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signaling activation. Essential for the generation of olfactory and autonomic neurons (By similarity).

Gene Wiki entry for ASCL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASCL1 Gene

Genomics for ASCL1 Gene

Regulatory Elements for ASCL1 Gene

Enhancers for ASCL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G102884 1 ENCODE 11.3 -71.7 -71734 2.0 HNRNPUL1 HDGF PKNOX1 FOXA2 ZNF48 CBX5 SP5 NFYC JUNB PPARG ASCL1 PAH GC12P102871 GC12M102927
GH12G102902 0.9 ENCODE 11.2 -53.5 -53464 3.5 ELF3 TBP FOXA2 ATF1 ARID4B RAD21 RARA YY1 RELB IKZF2 ASCL1 ENSG00000212594 STAB2 GC12M102927 GC12P102871
GH12G102879 0.8 ENCODE 11.3 -78.3 -78317 0.2 CTCF PKNOX1 TEAD4 SIN3A RAD21 ARID3A GATA3 SMC3 ZNF143 FOS ASCL1 PAH GC12P102871 GC12M102927
GH12G103548 0.7 ENCODE 11.8 +591.0 591026 0.9 GTF2F1 CTCF TEAD4 MAX RAD21 ZNF101 TEAD3 EED ZNF143 SMC3 C12orf42 ASCL1 LINC02401 GC12P103574
GH12G102977 0.5 VISTA 11.9 +20.5 20528 1.3 ASCL1 GC12M102978 PAH
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASCL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASCL1 Gene

Chromosome:
12
Start:
102,957,674 bp from pter
End:
102,960,516 bp from pter
Size:
2,843 bases
Orientation:
Plus strand

Genomic View for ASCL1 Gene

Genes around ASCL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASCL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASCL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASCL1 Gene

Proteins for ASCL1 Gene

  • Protein details for ASCL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50553-ASCL1_HUMAN
    Recommended name:
    Achaete-scute homolog 1
    Protein Accession:
    P50553
    Secondary Accessions:
    • A8K3C4
    • Q9BQ30

    Protein attributes for ASCL1 Gene

    Size:
    236 amino acids
    Molecular mass:
    25454 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3.

neXtProt entry for ASCL1 Gene

Post-translational modifications for ASCL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASCL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASCL1 Gene

Domains & Families for ASCL1 Gene

Gene Families for ASCL1 Gene

Protein Domains for ASCL1 Gene

Suggested Antigen Peptide Sequences for ASCL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ASCL1: view

No data available for UniProtKB/Swiss-Prot for ASCL1 Gene

Function for ASCL1 Gene

Molecular function for ASCL1 Gene

GENATLAS Biochemistry:
Drosophila achaete-scute homolog 1,downregulated in differentiating neuroblastoma cells
UniProtKB/Swiss-Prot Function:
Transcription factor that controls transcriptional expression of its target genes by binding to the E box (5-CANNTG-3). Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signaling activation. Essential for the generation of olfactory and autonomic neurons (By similarity).

Gene Ontology (GO) - Molecular Function for ASCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 11736660
GO:0000989 transcription factor activity, transcription factor binding ISS,IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 11736660
GO:0003677 DNA binding ISS --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with ASCL1: view
genes like me logo Genes that share phenotypes with ASCL1: view

Human Phenotype Ontology for ASCL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASCL1 Gene

MGI Knock Outs for ASCL1:

Animal Model Products

Targeted motifs for ASCL1 Gene
HOMER Transcription Factor Regulatory Elements motif ASCL1
  • Consensus sequence: NNVVCAGCTGBN Submotif: canonical Cell Type: NeuralTubes GEO ID: GSE55840

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ASCL1

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for ASCL1 Gene

Localization for ASCL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASCL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASCL1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ASCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 12858003
GO:0043025 neuronal cell body IEA --
GO:0090575 RNA polymerase II transcription factor complex IBA --
genes like me logo Genes that share ontologies with ASCL1: view

Pathways & Interactions for ASCL1 Gene

genes like me logo Genes that share pathways with ASCL1: view

SIGNOR curated interactions for ASCL1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ASCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 11736660
GO:0001764 neuron migration IEA --
GO:0003358 noradrenergic neuron development ISS,IEA --
GO:0003359 noradrenergic neuron fate commitment IMP 14532329
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ASCL1: view

Drugs & Compounds for ASCL1 Gene

(4) Drugs for ASCL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ASCL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ASCL1: view

Transcripts for ASCL1 Gene

mRNA/cDNA for ASCL1 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(140) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASCL1 Gene

Achaete-scute complex homolog 1 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ASCL1

Alternative Splicing Database (ASD) splice patterns (SP) for ASCL1 Gene

No ASD Table

Relevant External Links for ASCL1 Gene

GeneLoc Exon Structure for
ASCL1
ECgene alternative splicing isoforms for
ASCL1

Expression for ASCL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASCL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASCL1 Gene

This gene is overexpressed in Pituitary (x10.3) and Brain - Amygdala (x4.7).

NURSA nuclear receptor signaling pathways regulating expression of ASCL1 Gene:

ASCL1

SOURCE GeneReport for Unigene cluster for ASCL1 Gene:

Hs.703025

Evidence on tissue expression from TISSUES for ASCL1 Gene

  • Lung(5)
  • Nervous system(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASCL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • outer ear
Thorax:
  • diaphragm
  • heart
  • lung
Abdomen:
  • intestine
  • large intestine
Pelvis:
  • rectum
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with ASCL1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ASCL1 Gene

Orthologs for ASCL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASCL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASCL1 34
  • 98.55 (n)
oppossum
(Monodelphis domestica)
Mammalia ASCL1 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASCL1 35 34
  • 90.33 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ascl1 34
  • 90.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ASCL1 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ascl1 34 16 35
  • 88.6 (n)
cow
(Bos Taurus)
Mammalia ASCL1 35 34
  • 88.43 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ascl1 34
  • 81.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia ascl1-A 34
zebrafish
(Danio rerio)
Actinopterygii ascl1a 35 34
  • 79.37 (n)
OneToOne
asha 34
worm
(Caenorhabditis elegans)
Secernentea hlh-6 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 14 (a)
OneToMany
Species where no ortholog for ASCL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ASCL1 Gene

ENSEMBL:
Gene Tree for ASCL1 (if available)
TreeFam:
Gene Tree for ASCL1 (if available)

Paralogs for ASCL1 Gene

Paralogs for ASCL1 Gene

(1) SIMAP similar genes for ASCL1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ASCL1: view

Variants for ASCL1 Gene

Sequence variations from dbSNP and Humsavar for ASCL1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs267606667 Pathogenic 102,958,296(+) CCCAG(A/C)CGCAG reference, missense
rs552552603 Likely benign 102,958,382(+) GCGGC(A/T)GCGCA reference, synonymous-codon
rs794726916 Likely benign 102,958,416(+) AGCAG(-/CAGCAGCAGCAGCAG)GCGCC cds-indel
rs876657430 Likely benign 102,958,428(+) AGCAG(-/CAG)GCGCC cds-indel
rs886038540 Likely benign 102,958,419(+) AGCAG(-/CAGCAGCAGCAG)GCGCC cds-indel

Structural Variations from Database of Genomic Variants (DGV) for ASCL1 Gene

Variant ID Type Subtype PubMed ID
esv3581838 CNV gain 25503493
nsv1071051 CNV deletion 25765185

Variation tolerance for ASCL1 Gene

Residual Variation Intolerance Score: 33.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.43; 28.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASCL1 Gene

Human Gene Mutation Database (HGMD)
ASCL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASCL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASCL1 Gene

Disorders for ASCL1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for ASCL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
central hypoventilation syndrome, congenital
  • central hypoventilation syndrome, congenital, with or without hirschsprung disease
differentiating neuroblastoma
neuroendocrine tumor
  • neuroendocrine neoplasm
prostate small cell carcinoma
  • prostate oat cell carcinoma
pulmonary neuroendocrine tumor
  • neuroendocrine neoplasm of lung
- elite association - COSMIC cancer census association via MalaCards
Search ASCL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ASCL1

Genetic Association Database (GAD)
ASCL1
Human Genome Epidemiology (HuGE) Navigator
ASCL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASCL1
genes like me logo Genes that share disorders with ASCL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASCL1 Gene

Publications for ASCL1 Gene

  1. Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors. (PMID: 8390674) Ball D.W. … Nelkin B.D. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 4 22 64
  2. Examination of the MASH1 gene in patients with Parkinson's disease. (PMID: 20097173) Deng H. … Jankovic J. (Biochem. Biophys. Res. Commun. 2010) 3 22 46 64
  3. Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. (PMID: 21300955) Dehghan A. … Chasman D.I. (Circulation 2011) 3 46 64
  4. ASCL1 regulates the expression of the CHRNA5/A3/B4 lung cancer susceptibility locus. (PMID: 20124469) Improgo M.R. … Gardner P.D. (Mol. Cancer Res. 2010) 3 22 64
  5. A candidate gene study of obstructive sleep apnea in European Americans and African Americans. (PMID: 20538960) Larkin E.K. … Redline S. (Am. J. Respir. Crit. Care Med. 2010) 3 46 64

Products for ASCL1 Gene

  • Addgene plasmids for ASCL1

Sources for ASCL1 Gene

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