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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
  • 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 ASCL4.

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

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

Proteomics data for ASCL3 Gene at MOPED

Post-translational modifications for ASCL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASCL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for ASCL3

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:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ASCL3: view

Phenotypes for ASCL3 Gene

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

Animal Model 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
Jensen Localization Image for ASCL3 Gene 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: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

Selected Interacting proteins: Q9NQ33-ASCL3_HUMAN for ASCL3 Gene via I2D

Gene Ontology (GO) - Biological Process for ASCL3 Gene

None

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

Drugs & Compounds for ASCL3 Gene

No Compound Related Data Available

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:

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 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



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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ASCL3 35
  • 85.45 (n)
  • 81.22 (a)
ASCL3 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASCL3 35
  • 86.56 (n)
  • 82.87 (a)
ASCL3 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ascl3 35
  • 74.52 (n)
  • 68.39 (a)
Ascl3 16
Ascl3 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ASCL3 35
  • 98.71 (n)
  • 98.34 (a)
ASCL3 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ascl3 35
  • 75.86 (n)
  • 68.97 (a)
oppossum
(Monodelphis domestica)
Mammalia ASCL3 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASCL3 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASCL3 36
  • 51 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hlh-6 36
  • 20 (a)
OneToMany
Species with no ortholog for ASCL3:
  • 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:

Pseudogenes.org Pseudogenes for ASCL3 Gene

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
rs4909951 - 8,937,998(+) GCAGC(A/C/T)GTGGC reference, missense
rs2316541 -- 8,943,825(-) aaaac(C/T)gtctc upstream-variant-2KB
rs2455603 -- 8,943,391(-) aatcc(A/G)actgg upstream-variant-2KB
rs2568079 -- 8,942,516(+) AGAGC(A/G)ATTCT intron-variant
rs2568081 -- 8,944,448(+) CAACC(A/G)CTGAT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv7215 OTHER Inversion 18451855
nsv499766 OTHER Inversion 21111241
essv24306 CNV CNV 17122850
nsv435923 CNV Deletion 17901297
nsv832062 CNV Loss 17160897
dgv191e199 CNV Deletion 23128226
nsv520248 CNV Loss 19592680

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

HapMap Linkage Disequilibrium report
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. 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 67
  2. Hash4, a novel human achaete-scute homologue found in fetal skin. (PMID: 15475265) Jonsson M. … Asp J. (Genomics 2004) 3 23
  3. 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
  4. An atlas of combinatorial transcriptional regulation in mouse and man. (PMID: 20211142) Ravasi T. … Hayashizaki Y. (Cell 2010) 3
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3

Products for ASCL3 Gene

Sources for ASCL3 Gene

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