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Aliases for ASCL3 Gene

Aliases for ASCL3 Gene

  • Achaete-Scute Family BHLH Transcription Factor 3 2 3 5
  • Class A Basic Helix-Loop-Helix Protein 42 3 4
  • BHLH Transcriptional Regulator Sgn-1 3 4
  • BHLHa42 3 4
  • HASH3 3 4
  • SGN1 3 4
  • BHLH Transcription Factor Sgn-1 (Salivary Glands 1) 3
  • Achaete-Scute Complex (Drosophila) Homolog-Like 3 2
  • Achaete-Scute Complex Homolog 3 (Drosophila) 2
  • Achaete-Scute Complex Homolog 3 3
  • Achaete-Scute Homolog 3 3
  • ASH-3 4

External Ids for ASCL3 Gene

Previous GeneCards Identifiers for ASCL3 Gene

  • GC11P009957
  • GC11M009650
  • GC11M008998
  • GC11M008923
  • GC11M008915
  • GC11M008629

Summaries for ASCL3 Gene

Entrez Gene Summary for ASCL3 Gene

  • Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ASCL3 Gene

ASCL3 (Achaete-Scute Family BHLH Transcription Factor 3) is a Protein Coding gene. GO annotations related to this gene include protein dimerization activity. An important paralog of this gene is ASCL5.

UniProtKB/Swiss-Prot for ASCL3 Gene

  • Transcriptional repressor. Inhibits myogenesis (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASCL3 Gene

Genomics for ASCL3 Gene

Regulatory Elements for ASCL3 Gene

Enhancers for ASCL3 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
GH11F008905 1.1 Ensembl ENCODE 10.3 +36.4 36361 3.3 TBP PKNOX1 INSM2 SIN3A BRCA1 RFX5 ZNF121 ZNF366 RCOR1 FOS TMEM9B-AS1 AKIP1 EIF3F SNORA3B WEE1 RPL21P97 ZNF143 ENSG00000223080 ASCL3 RPL27A
GH11F008916 0.9 Ensembl ENCODE 12 +25.6 25552 2.7 SOX5 TFAP4 L3MBTL2 TEAD1 BHLHE40 TEAD4 SIN3A TEAD3 JUND MAFK TMEM9B-AS1 AKIP1 ENSG00000223080 ASCL3 TMEM9B SCUBE2 C11orf16
GH11F009015 1 Ensembl ENCODE 9.7 -72.9 -72868 0.6 CTCF ZNF654 SAP130 WRNIP1 ZNF76 TRIM22 REST ZIC2 RAD21 RFX5 SCUBE2 AKIP1 ST5 ASCL3 ENSG00000223080 LOC105376541 MIR5691
GH11F009016 0.8 Ensembl ENCODE 9.7 -74.4 -74369 1.6 FOSL1 FOS NFE2 ZIC2 SPI1 GABPA SCUBE2 ASCL3 ENSG00000223080 AKIP1 LOC105376541 MIR5691
GH11F008771 1.5 FANTOM5 Ensembl ENCODE 3 +167.4 167411 8.8 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 MXD4 MIER2 REST PPARG AKIP1 SNORA3B SCUBE2 TMEM9B TMEM9B-AS1 ASCL3 ENSG00000255159 LOC102724784 GC11P008791
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASCL3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASCL3 Gene

Chromosome:
11
Start:
8,937,572 bp from pter
End:
8,943,033 bp from pter
Size:
5,462 bases
Orientation:
Minus strand

Genomic View for ASCL3 Gene

Genes around ASCL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASCL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASCL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASCL3 Gene

Proteins for ASCL3 Gene

  • Protein details for ASCL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ33-ASCL3_HUMAN
    Recommended name:
    Achaete-scute homolog 3
    Protein Accession:
    Q9NQ33
    Secondary Accessions:
    • Q8WYQ6

    Protein attributes for ASCL3 Gene

    Size:
    180 amino acids
    Molecular mass:
    20797 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein.
    SequenceCaution:
    • Sequence=CAB92288.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ASCL3 Gene

Post-translational modifications for ASCL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASCL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASCL3 Gene

Domains & Families for ASCL3 Gene

Gene Families for ASCL3 Gene

Protein Domains for ASCL3 Gene

Suggested Antigen Peptide Sequences for ASCL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQ33

UniProtKB/Swiss-Prot:

ASCL3_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with ASCL3: view

Function for ASCL3 Gene

Molecular function for ASCL3 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor. Inhibits myogenesis (By similarity).

Gene Ontology (GO) - Molecular Function for ASCL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA,IBA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding ISS --
GO:0003700 contributes_to transcription factor activity, sequence-specific DNA binding IBA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with ASCL3: view
genes like me logo Genes that share phenotypes with ASCL3: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ASCL3 Gene

Localization for ASCL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASCL3 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 ASCL3 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ASCL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
GO:0090575 RNA polymerase II transcription factor complex IBA --
genes like me logo Genes that share ontologies with ASCL3: view

Pathways & Interactions for ASCL3 Gene

SuperPathways for ASCL3 Gene

No Data Available

Interacting Proteins for ASCL3 Gene

Gene Ontology (GO) - Biological Process for ASCL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated ISS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA,ISS --
genes like me logo Genes that share ontologies with ASCL3: view

No data available for Pathways by source and SIGNOR curated interactions for ASCL3 Gene

Transcripts for ASCL3 Gene

mRNA/cDNA for ASCL3 Gene

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

Unigene Clusters for ASCL3 Gene

Achaete-scute complex homolog 3 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASCL3 Gene

No ASD Table

Relevant External Links for ASCL3 Gene

GeneLoc Exon Structure for
ASCL3
ECgene alternative splicing isoforms for
ASCL3

Expression for ASCL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASCL3 Gene

mRNA differential expression in normal tissues according to GTEx for ASCL3 Gene

This gene is overexpressed in Minor Salivary Gland (x37.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASCL3 Gene



NURSA nuclear receptor signaling pathways regulating expression of ASCL3 Gene:

ASCL3

SOURCE GeneReport for Unigene cluster for ASCL3 Gene:

Hs.501852

mRNA Expression by UniProt/SwissProt for ASCL3 Gene:

Q9NQ33-ASCL3_HUMAN
Tissue specificity: Widely expressed in fetal and adult tissues.
genes like me logo Genes that share expression patterns with ASCL3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Protein tissue co-expression partners for ASCL3 Gene

Orthologs for ASCL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASCL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASCL3 34 35
  • 98.71 (n)
dog
(Canis familiaris)
Mammalia ASCL3 34 35
  • 86.56 (n)
cow
(Bos Taurus)
Mammalia ASCL3 34 35
  • 85.45 (n)
rat
(Rattus norvegicus)
Mammalia Ascl3 34
  • 75.86 (n)
mouse
(Mus musculus)
Mammalia Ascl3 34 16 35
  • 74.52 (n)
oppossum
(Monodelphis domestica)
Mammalia ASCL3 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASCL3 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASCL3 35
  • 51 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hlh-6 35
  • 20 (a)
OneToMany
Species where no ortholog for ASCL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for ASCL3 Gene

ENSEMBL:
Gene Tree for ASCL3 (if available)
TreeFam:
Gene Tree for ASCL3 (if available)

Paralogs for ASCL3 Gene

Paralogs for ASCL3 Gene

(3) SIMAP similar genes for ASCL3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ASCL3: view

Variants for ASCL3 Gene

Sequence variations from dbSNP and Humsavar for ASCL3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs10769976 -- 8,938,710(+) TTATT(C/G)TCCTT intron-variant
rs10840154 -- 8,940,742(+) GGGAA(A/G)AAAGG intron-variant
rs10840155 -- 8,940,864(+) AGTAA(C/T)ACAGA intron-variant
rs11042130 -- 8,938,375(+) CTCCC(A/G)AGTAG intron-variant
rs11042131 -- 8,938,992(+) TAGAG(A/C)CAGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ASCL3 Gene

Variant ID Type Subtype PubMed ID
nsv832062 CNV loss 17160897
nsv7215 OTHER inversion 18451855
nsv553451 CNV loss 21841781
nsv553448 CNV loss 21841781
nsv520248 CNV loss 19592680
nsv499766 OTHER inversion 21111241
nsv435923 CNV deletion 17901297
esv3625324 CNV loss 21293372
esv2759803 CNV gain 17122850
dgv191e199 CNV deletion 23128226
dgv1640n54 CNV loss 21841781

Variation tolerance for ASCL3 Gene

Residual Variation Intolerance Score: 64.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASCL3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASCL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASCL3 Gene

Disorders for ASCL3 Gene

Relevant External Links for ASCL3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASCL3

No disorders were found for ASCL3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASCL3 Gene

Publications for ASCL3 Gene

  1. Hash4, a novel human achaete-scute homologue found in fetal skin. (PMID: 15475265) Jonsson M. … Asp J. (Genomics 2004) 3 4 22 64
  2. Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7. (PMID: 11528127) Amid C. … Schmidt E.R. (Cytogenet. Cell Genet. 2001) 2 3 4 64
  3. Sgn1, a basic helix-loop-helix transcription factor delineates the salivary gland duct cell lineage in mice. (PMID: 11784080) Yoshida S. … Nabeshima Y. (Dev. Biol. 2001) 3 4 64
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3 64
  5. An atlas of combinatorial transcriptional regulation in mouse and man. (PMID: 20211142) Ravasi T. … Hayashizaki Y. (Cell 2010) 3 64

Products for ASCL3 Gene

Sources for ASCL3 Gene

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