ASCL1 Gene
protein-coding GIFtS: 63
GC12P101856
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achaete-scute complex homolog 1 (Drosophila) (Previous names: achaete-scute complex (Drosophila) homolog-like 1, achaete-scute complex-like 1 (Drosophila) ) Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases & Descriptions for ASCL1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
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| Aliases |
|---|
| ASH1 1, 2, 3, 5 | | HASH1 1, 2, 3 | | MASH1 2 | | bHLHa46 1, 2 |
| | | Descriptions |
|---|
| achaete scute protein 2 | | achaete-scute complex (Drosophila) homolog-like 1 1 | | achaete-scute complex homolog 1 2 | | achaete-scute complex homolog 1 (Drosophila) 2 | | achaete-scute complex-like 1 2 | | achaete-scute complex-like 1 (Drosophila) 1 |
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| | Search outside databases for aliases for ASCL1 genePrevious GC identifers: GC12P102450 GC12P103310 GC12P101854 GC12P101855 |
Summaries for ASCL1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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] UniProtKB/Swiss-Prot: ASCL1_HUMAN, P50553Function: 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. Activates transcription by binding to the E box (5'-CANNTG-3')Gene Wiki entry for ASCL1 |
Genomic Location for ASCL1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the ASCL1 gene 
Entrez Gene cytogenetic band: 12q23.2 Ensembl cytogenetic band: 12q23.2 HGNC cytogenetic band: 12q22-q23ASCL1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P101856:
(about GC identifiers)
Start:
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101,875,594 bp from pter |
End:
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101,878,421 bp from pter |
Size:
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2,828 bases |
Orientation:
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plus strand |
RefSeq DNA sequence:- NC_000012.10 NT_019546.15
| Proteins for ASCL1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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: Q9BQ30Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_004307.2
ENSEMBL proteins: ENSP00000266744
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for ASCL1: Assays for ASCL1: | Protein
Domains/ Families for ASCL1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P50553Similarity: Contains 1 basic helix-loop-helix (bHLH) domain | Gene Function for ASCL1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004316
Applied Biosystems Silencer® siRNAs for ASCL1
Sigma-Aldrich siRNA for ASCL1  Sigma-Aldrich shRNA for ASCL1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004316                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004316                                  untagged cDNA clones in CMV expression vector (see all 2): NM_004316 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004316
UniProtKB/Swiss-Prot: ASCL1_HUMAN, P50553Function: 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. Activates transcription by binding to the E box (5'-CANNTG-3')Genatlas biochemistry entry for ASCL1:Drosophila achaete-scute homolog 1,downregulated in differentiating neuroblastoma cells10 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Ascl1):
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for ASCL1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
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Gene Network CentralTM Interacting Genes and Proteins Network for ASCL1 
5/53 Interacting proteins for ASCL1 (ENSP000002667443 P505531) via UniProtKB, MINT, and/or STRING (see all 53
)About this table
5/17 Gene Ontology (GO) biological process terms (links to tree view) (see all 17
): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001764 | neuron migration |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- | | GO:0007389 | pattern specification process |
IEA | -- | | GO:0007399 | nervous system development |
IEA | -- | | GO:0007400 | neuroblast fate determination |
IEA | -- | About this table
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Drugs & Compounds for ASCL1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
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Browse Tocris compounds for ASCL1 4 Novoseek chemical compound relationships for ASCL1 gene
About this table
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Transcripts for ASCL1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004316
Sigma-Aldrich siRNA for ASCL1  Sigma-Aldrich shRNA for ASCL1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_004316 REFSEQ mRNAs for ASCL1 gene: NM_004316.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004316               OriGene GFP tagged cDNA clone in CMV expression vector: NM_004316                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004316                                  untagged cDNA clones in CMV expression vector (see all 2): NM_004316  Additional cDNA sequence: AK290539.1 AK314114.1 BC001638.2 BC002341.2 BC003134.1 BC004425.1 BC031299.1 CR615179.1 L08424.1 4 DOTS entries: DT.450436 DT.95096800 DT.95360797 DT.95078444 24/140 AceView cDNA sequences (see all 140
):AI934490 AW248896 BM696219 AW166088 BM715329 AI369271 CR615179 BE221091 BC002341 AW149352 AI885738 BM677526 AW139639 AI279866 BM021413 BU742375 AI300010 BF433583 BC031299 AW249707 AW246655 AI869311 AW131522 AW131798
highest scoring ESTs for ASCL1:AI359957 L08424 AA350158 AA350159 AA442045 AA488142 AA826434 AA908710 AA911550 AI279194 Unigene Cluster for ASCL1: Achaete-scute complex homolog 1 (Drosophila) Hs.704281 [show with all ESTs]Unigene Representative Sequence: NM_004316
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000266744
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Expression for ASCL1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ASCL1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ASCL1
1 / 2 / 3 11 probe-sets matching ASCL1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.704281
Expression variation in blood from EXPOLDB for ASCL1 |
Orthologs for ASCL1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
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Orthologs for ASCL1 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for ASCL1
ENSEMBL Gene Tree for ASCL1 | Paralogs for ASCL1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ASCL1 gene
- ASCL32 ASCL22 ASCL42
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SNPs/Variants for ASCL1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
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HapMap Linkage Disequilibrium images for ASCL1 (up to first 250kb)
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Disorders & Mutations for ASCL1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
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OMIM: 100790 disorders: 209880 209880 10/17 Novoseek disease relationships for ASCL1 gene (see all 17
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| neuroendocrine tumors |
72.70 |
15 |
14657947 (3), 8751579 (2), 18563491 (1), 17874277 (1) (see all 7) |
| central hypoventilation syndrome, congenital |
66.35 |
1 |
14532329 (1) |
| thyroid carcinoma medullary |
64.88 |
3 |
8751579 (1), 14668716 (1), 17090547 (1) |
| small cell lung cancer |
63.15 |
12 |
18587322 (4), 11948117 (2), 9144241 (1), 11193209 (1) (see all 5) |
| carcinoid |
53.88 |
21 |
15701827 (4), 14657947 (2), 15870121 (2), 11193209 (1) (see all 5) |
| carcinoma neuroendocrine |
51.14 |
9 |
14657947 (3), 18751955 (1) |
| lung carcinoma |
38.64 |
6 |
17507989 (1), 14657947 (1), 15318167 (1) |
| teratocarcinoma |
36.36 |
2 |
8662987 (1) |
| cancer lung |
32.79 |
31 |
16322211 (5), 9144241 (3), 14657947 (3), 18339843 (3) (see all 11) |
| pheochromocytoma |
27.13 |
1 |
9186001 (1) |
About this table
Human Gene Mutation Database: ASCL1 Genetic Association Database: ASCL1 Human Genome Epidemiology Navigator: ASCL1 (3 documents)
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Medical News for ASCL1(Possibly Related Articles in
Doctor's Guide)
About This Section
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Publications for ASCL1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/137 PubMed articles for ASCL1 gene (see all 137
):- Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors. (PubMed id 8390674)1, 2, 3, 4 Ball D.W.... Nelkin B.D. (1993)
- Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PubMed id 15240857)1, 3, 6 Weese-Mayer D.E....Marazita M.L. (2004)
- Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence for association of ASCL1 with Parkinson's disease. (PubMed id 16021468)3, 6 Ide M....Yoshikawa T. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Upregulation of ASCL1 and inhibition of Notch signaling pathway characterize progressive astrocytoma. (PubMed id 16103883)1, 3 Somasundaram K....Rao M.R. (2005)
- Notch signaling induces rapid degradation of achaete-scute homolog 1. (PubMed id 11940670)1, 3 Sriuranpong V....Ball D.W. (2002)
- Quantitative reverse transcription-polymerase chain reaction measurement of HASH1 (ASCL1), a marker for small cell lung carcinomas with neuroendocrine features. (PubMed id 11948117)1, 3 Westerman B.A....Oudejans C.B. (2002)
- Translational regulation of the human achaete-scute homologue-1 by fragile X mental retardation protein. (PubMed id 19097999)1, 3 FAohling M....Scholz H. (2009)
- MASH1: a useful marker in differentiating pulmonary small cell carcinoma from Merkel cell carcinoma. (PubMed id 18587322)1, 3 Ralston J....Nonaka D. (2008)
- Aberrant expression of human achaete-scute homologue gene 1 in the gastrointestinal neuroendocrine carcinomas. (PubMed id 15701827)1, 3 Shida T....Ishikura H. (2005)
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Search for ASCL1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing ASCL1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ASCL1
(According to HUGE)
About This Section
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Specialized Databases showing ASCL1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| About This Section
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| Services for ASCL1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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 Products for ASCL1:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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