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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASCL1 Gene

protein-coding   GIFtS: 61
GCID: GC12P103352

achaete-scute complex homolog 1 (Drosophila)

(Previous names: achaete-scute complex (Drosophila) homolog-like 1, achaete-scute...)
 Explore 47 diseases affiliated with
ASCL1 via
MalaCards
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 Human Malady Compendium 
Biological research products
for ASCL1    

Aliases
for ASCL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Achaete-Scute Complex Homolog 1 (Drosophila)1 2     Achaete-Scute Complex-Like 1 (Drosophila)1
ASH11 2 3 5     MASH12
HASH11 2 3     Achaete Scute Protein2
BHLHa461     Achaete-Scute Complex-Like 12
Class A Basic Helix-Loop-Helix Protein 462 3     Achaete-Scute Homolog 12
ASH-12 3     BHLHA463
Achaete-Scute Complex (Drosophila) Homolog-Like 11     HASH11 2 3

External Ids:    HGNC: 7381   Entrez Gene: 4292   Ensembl: ENSG000001393527   OMIM: 1007905   UniProtKB: P505533   

Export aliases for ASCL1 gene to outside databases

Previous GC identifers: GC12P102450 GC12P103310 GC12P101854 GC12P101855 GC12P101856 GC12P101875 GC12P100410


Summaries
for ASCL1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ASCL1:
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)

UniProtKB/Swiss-Prot: ASCL1_HUMAN, P50553
Function: Transcriptional regulator. May play a role at early stages of development of specific neural lineages in most
regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic
neurons. Involved in the initiation of neuronal differentiation. Mediates transcription activation by binding to the E
box (5'-CANNTG-3')

Gene Wiki entry for ASCL1


Genomic Views
for ASCL1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASCL1 gene promoter:
         GATA-3   Sp1   NRSF form 1   ZID   NRSF form 2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ASCL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ASCL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASCL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q23.2   Ensembl cytogenetic band:  12q23.2   HGNC cytogenetic band: 12q22-q23

ASCL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASCL1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P103352:  view genomic region     (about GC identifiers)

Start:
 103,351,452 bp from pter      End:
 103,354,294 bp from pter
Size:
 2,843 bases      Orientation:
 plus strand

Proteins
for ASCL1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ASCL1_HUMAN, P50553 (See protein sequence)
Recommended Name: Achaete-scute homolog 1  
Size: 236 amino acids; 25454 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3
Subcellular location: Nucleus (Probable)
Secondary accessions: A8K3C4 Q9BQ30

Explore the universe of human proteins at neXtProt for ASCL1: NX_P50553

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P50553

    • ASCL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004307.2  
    ENSEMBL proteins: 
     ENSP00000266744  

    Human Recombinant Protein Products: 
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    Novus Biologicals ASCL1 Proteins
    Novus Biologicals ASCL1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ASCL1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12858003
    GO:0043025neuronal cell body IEA--


    ASCL1 for ontologies           About GeneDecksing



    ASCL1 Antibody Products: 
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    Uscn ELISAs and CLIAs for ASCL1

    Protein Domains /
    Families
    for ASCL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ASCL1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR015660 ASH
     IPR011598 HLH_dom

    Graphical View of Domain Structure for InterPro Entry P50553

    ProtoNet protein and cluster: P50553

    1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: ASCL1_HUMAN, P50553
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Function
    for ASCL1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ASCL1_HUMAN, P50553
    Function: Transcriptional regulator. May play a role at early stages of development of specific neural lineages in most
    regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic
    neurons. Involved in the initiation of neuronal differentiation. Mediates transcription activation by binding to the E
    box (5'-CANNTG-3')

         Genatlas biochemistry entry for ASCL1:
    Drosophila achaete-scute homolog 1,downregulated in differentiating neuroblastoma cells

    miRNA
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    8/62 QIAGEN miScript miRNA Assays for microRNAs that regulate ASCL1 (see all 62):
    hsa-miR-323-3p hsa-miR-142-5p hsa-miR-548j hsa-miR-3678-3p hsa-miR-582-3p hsa-miR-548k hsa-miR-1258 hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmid: ASCL1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASCL1 (see all 7)
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    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000989transcription factor binding transcription factor activity ISS--
    GO:0003677DNA binding ISS--
    GO:0003690double-stranded DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA10903890
    GO:0005515protein binding IPI10903890


    ASCL1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ASCL1:
     Increased number of cells in m 

    Animal Models:
         Mouse knock-out Ascl1tm1And for ASCL1
         14 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Ascl1):
     behavior/neurological  cellular  craniofacial  endocrine/exocrine gland  growth/size 
     integument  mortality/aging  nervous system  no phenotypic analysis  normal 
     pigmentation  respiratory system  taste/olfaction  vision/eye 

    ASCL1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ASCL1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcription factors in neurogenesis
    		Transcription factors in neurogenesis1.00
    2Neural Crest Differentiation
    		Neural Crest Differentiation1.00
    3Notch-mediated HES/HEY network
    		Notch-mediated HES/HEY network1.00
    4SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways1.00
    5Notch Signaling Pathway
    		Delta-Notch Signaling Pathway0.27

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ASCL1
        Transcription factors in neurogenesis


    4 BioSystems Pathways for ASCL1 
        SIDS Susceptibility Pathways
    Neural Crest Differentiation
    Delta-Notch Signaling Pathway
    Notch-mediated HES/HEY network



    ASCL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ASCL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/13 Interacting proteins for ASCL1 (P505531, 3 ENSP000002667444) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TCF3P159231, 3, ENSP000002629654EBI-957042,EBI-769630 I2D: score=2 STRING: ENSP00000262965
    TCF4P158841, 3, ENSP000003464404EBI-957042,EBI-533224 I2D: score=4 STRING: ENSP00000346440
    HES5Q5TA893, ENSP000003677144I2D: score=1 STRING: ENSP00000367714
    UBQLN1Q9UMX03, ENSP000003655764I2D: score=1 STRING: ENSP00000365576
    NEUROG2Q9H2A33, ENSP000003173334I2D: score=1 STRING: ENSP00000317333
    About this table

    Gene Ontology (GO): 5/54 biological process terms (GO ID links to tree view) (see all 54):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0003359noradrenergic neuron fate commitment IMP14532329
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0007219Notch signaling pathway IDA16160079


    ASCL1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ASCL1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ASCL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASCL1
    6 Novoseek chemical compound relationships for ASCL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lithium chloride 34.7 3 17263970 (1), 17363508 (1)
    retinoic acid 24.5 14 17728141 (4), 11464865 (2), 19885044 (1), 11414696 (1)
    lysine 0 4 10430036 (1), 15031712 (1)
    phenylalanine 0 1 8595908 (1)
    tyrosine 0 1 17034791 (1)
    dopamine 0 9 16723737 (4), 17034791 (2)

    Search CenterWatch for drugs/clinical trials and news about ASCL1 

    Transcripts
    for ASCL1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ASCL1 gene: 
    NM_004316.3  

    Unigene Cluster for ASCL1:

    Achaete-scute complex homolog 1 (Drosophila)
    Hs.703025  [show with all ESTs]
    Unigene Representative Sequence: NM_004316
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000266744(uc001tjr.4)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASCL1
    8/62 QIAGEN miScript miRNA Assays for microRNAs that regulate ASCL1 (see all 62):
    hsa-miR-323-3p hsa-miR-142-5p hsa-miR-548j hsa-miR-3678-3p hsa-miR-582-3p hsa-miR-548k hsa-miR-1258 hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmid: ASCL1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASCL1 (see all 7)
    OriGene shRNA RFP: ASCL1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASCL1
    Clone
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    Primer
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    Additional cDNA sequence: 

    AK290539.1 AK314114.1 BC001638.2 BC002341.2 BC003134.1 BC004425.1 BC031299.1 L08424.1 

    4 DOTS entries:

    DT.450436  DT.95096800  DT.95360797  DT.95078444 

    24/140 AceView cDNA sequences (see all 140):

    BM677526 AW149352 AI279866 AW246655 AI885738 BC003134 BM696219 BC031299 
    BC002341 CR615179 BU742375 AI369271 AW139639 AW249707 AW131522 AW248896 
    BF433583 AI869311 AW005359 AI300010 BE221091 BM715329 AW166088 AW131798 

    GeneLoc Exon Structure


    Expression
    for ASCL1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASCL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCGGCTCGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ASCL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LungStem BronchiNeuroendocrine CellsLung
    EyeGanglion Cell LayerGanglion Precursor CellsGanglion, Retina
    EyeNeuroblastic LayerEarly Retinal Progenitor CellsRetina
    EyeInner Nuclear LayerBipolar Precursor CellsBipolar, Retina
    EyeOuter Nuclear LayerRod Precursor CellsPhotoreceptors, Retina
    LungStem BronchiBronchiolar Progenitor CellsLung
    Neural CrestTrunk Neural CrestSympathetic NeuronsNeural Crest
    Head MesenchymeFrontonasal ProcessHead Mesenchyme
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    Lateral Ganglionic Eminence progenitors (Generation of forebr...)
    Peripheral neuron-like cells (Derivation of neural...)
    N2/LSB/S/F8-induced cells (Generation of midbra...)
    Midbrain dopaminergic-like neurons (Generation of midbra...)

    See ASCL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASCL1

    SOURCE GeneReport for Unigene cluster: Hs.703025
        SABiosciences Expression via Pathway-Focused PCR Array including ASCL1: 
              Neurogenesis in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASCL1

    Orthologs
    for ASCL1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ASCL1 gene from 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    African clawed frog
    (Xenopus laevis)    		 Amphibia ascl1-A2 achaete-scute complex-like 1 83.23(n)    M98272.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii asha2 achaete scute homolog A 80.99(n)   30466  NM_131219.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta l(1)sc6
    ac6
    (see all 4)    		 achaete
    (see all 4)    		 25(a)
    22(a)
    (see all 4)    		 many ↔ many
    many ↔ many
    (see all 4)    		 X(303756-304850)
    X(264064-264980)


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

    Paralogs
    for ASCL1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASCL1 gene
    ASCL32  ASCL22  ASCL42  
    1 SIMAP similar gene for ASCL1 using alignment to 1 protein entry:     ASCL1_HUMAN:
    ASCL2

    ASCL1 for paralogs           About GeneDecksing



    Genomic Variants
    for ASCL1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/105 NCBI SNPs in ASCL1 are shown (see all 105)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs749884711,2
    		F,--100409279(+) TGGATG/CATTGC 1 -- us2k12Minor allele frequency- C:0.08NA EA 240
    rs1116057901,2
    		--100409376(+) TTGCTT/CGGTCT 1 -- us2k12Minor allele frequency- C:0.03CSA WA 120
    rs1130432951,2
    		--100410068(+) GAGGAC/AGCCTT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs38344691,2
    		C,--100410573(-) CCTCTC/-CCCCC 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs10428511,2
    		C--100410947(-) TCTAAG/AAAAAA 1 -- ut51 trp31Minor allele frequency- A:0.00NA 2
    rs95061,2
    		A,H--100411165(+) CTTTTC/TTTTCC 1 -- ut51 trp36Minor allele frequency- T:0.00MN NS EA NA 600
    rs793689391,2
    		C,--100411617(+) GCAGCA/CGCAGC 2 Q P mis10--------
    rs18031571,2
    		C,H--100411746(+) GGTGGA/GGACAC 2 E G mis1 ese36Minor allele frequency- G:0.00NS EA NA 422
    rs111114201,2
    		C,H--100411981(+) TGGTTC/GTGAGG 2 F L mis1 ese34Minor allele frequency- G:0.00NS EA 416
    rs2017822281,2
    		C--100412459(+) GAAAAA/GAAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ASCL1 (103351452 - 103354294 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ASCL1: --
    Human Gene Mutation Database (HGMD): ASCL1

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    Disorders / Diseases
    for ASCL1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ASCL1 for disorders           About GeneDecksing

    OMIM gene information: 100790   
    OMIM disorders: 209880  
    20/47 diseases for ASCL1 (see all 47):    About MalaCards
    central hypoventilation syndrome    congenital central hypoventilation syndrome    sudden infant death syndrome    primitive neuroectodermal tumor
    status epilepticus    idiopathic interstitial pneumonia    haddad syndrome    neuroendocrine tumor
    sleep apnea    neuroectodermal tumors    pulmonary neuroendocrine tumor    merkel cell carcinoma
    esthesioneuroblastoma    neuronitis    differentiating neuroblastoma    pancreatic endocrine tumors
    apnea    teratocarcinoma    small cell carcinoma    carcinoid tumors

    10/17 Novoseek disease relationships for ASCL1 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuroendocrine tumors 70.2 15 14657947 (3), 8751579 (2), 18563491 (1), 17874277 (1) (see all 7)
    thyroid carcinoma medullary 68.8 7 8751579 (1), 20226902 (1), 14668716 (1), 17090547 (1)
    small cell lung cancer 65.1 12 18587322 (4), 11948117 (2), 9144241 (1), 11193209 (1) (see all 5)
    central hypoventilation syndrome, congenital 64 1 14532329 (1)
    carcinoid 54.1 22 15701827 (4), 14657947 (2), 15870121 (2), 19765735 (1) (see all 6)
    carcinoma neuroendocrine 48.3 9 14657947 (3), 18751955 (1)
    lung carcinoma 41.2 6 17507989 (1), 14657947 (1), 15318167 (1)
    teratocarcinoma 34.1 2 8662987 (1)
    cancer lung 32.1 33 16322211 (5), 9144241 (3), 14657947 (3), 18339843 (3) (see all 12)
    pheochromocytoma 31 5 19669229 (2), 9186001 (1)

    Genetic Association Database (GAD): ASCL1
    Human Genome Epidemiology (HuGE) Navigator: ASCL1 (6 documents)

    Export disorders for ASCL1 gene to outside databases

    Publications
    for ASCL1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ASCL1 gene, integrated from 9 sources (see all 168):
    (articles sorted by number of sources associating them with ASCL1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors. (PubMed id 8390674)1, 2, 3, 9 Ball D.W.... Nelkin B.D. (1993)
    2. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PubMed id 15240857)1, 4, 9 Weese-Mayer D.E....Marazita M.L. (2004)
    3. Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence for association of ASCL1 with Parkinson's disease. (PubMed id 16021468)1, 4 Ide M....Yoshikawa T. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Proprotein convertase PACE4 is down-regulated by the basic helix-loop-helix transcription factor hASH-1 and MASH-1. (PubMed id 11736660)1, 9 Yoshida I....Matsuda Y. (2001)
    6. Upregulation of ASCL1 and inhibition of Notch signaling pathway characterize progressive astrocytoma. (PubMed id 16103883)1, 9 Somasundaram K....Rao M.R. (2005)
    7. Notch signaling induces rapid degradation of achaete-scute homolog 1. (PubMed id 11940670)1, 9 Sriuranpong V....Ball D.W. (2002)
    8. Quantitative reverse transcription-polymerase chain reaction measurement of HASH1 (ASCL1), a marker for small cell lung carcinomas with neuroendocrine features. (PubMed id 11948117)1, 9 Westerman B.A....Oudejans C.B. (2002)
    9. Identification of Achaete-scute complex-like 1 (ASCL1 ) target genes and evaluation of DKK1 and TPH1 expression in pancreatic endocri ne tumours. (PubMed id 19744316)1, 9 Johansson T.A....Skogseid B. (2009)
    10. Translational regulation of the human achaete-scute homologue-1 by fragile X mental retardation protein. (PubMed id 19097999)1, 9 FAohling M....Scholz H. (2009)

    External Searches for ASCL1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing ASCL1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 429 HGNC: 738 AceView: ASCL1 Ensembl:ENSG00000139352 euGenes: HUgn429
    ECgene: ASCL1 H-InvDB: ASCL1

    Other Databases showing ASCL1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ASCL1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ASCL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ASCL1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for ASCL1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ASCL1 gene:
    Search GeneIP for patents involving ASCL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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