Version 5.4
Homo sapiens Gene: ASCL1
Summary
InnateDB Gene IDBG-53767.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ASCL1
Gene Name achaete-scute complex homolog 1 (Drosophila)
Synonyms ASH1; bHLHa46; HASH1; MASH1
Species Homo sapiens
Ensembl Gene ENSG00000139352
Encoded Proteins
IDBP-53769
achaete-scute complex homolog 1 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:102957686-102960516
Strand Forward strand
Band q23.2
Transcripts
ENST00000266744 ENSP00000266744
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000989 transcription factor binding transcription factor activity
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003690 double-stranded DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0043425 bHLH transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0046983 protein dimerization activity
GO:0070888 E-box binding
Biological Process
GO:0001764 neuron migration
GO:0003358 noradrenergic neuron development
GO:0003359 noradrenergic neuron fate commitment
GO:0006351 transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007219 Notch signaling pathway
GO:0007346 regulation of mitotic cell cycle
GO:0007389 pattern specification process
GO:0007399 nervous system development
GO:0007400 neuroblast fate determination
GO:0007405 neuroblast proliferation
GO:0008593 regulation of Notch signaling pathway
GO:0010001 glial cell differentiation
GO:0010226 response to lithium ion
GO:0010468 regulation of gene expression
GO:0014003 oligodendrocyte development
GO:0021527 spinal cord association neuron differentiation
GO:0021529 spinal cord oligodendrocyte cell differentiation
GO:0021530 spinal cord oligodendrocyte cell fate specification
GO:0021750 vestibular nucleus development
GO:0021779 oligodendrocyte cell fate commitment
GO:0021879 forebrain neuron differentiation
GO:0021892 cerebral cortex GABAergic interneuron differentiation
GO:0021902 commitment of neuronal cell to specific neuron type in forebrain
GO:0021954 central nervous system neuron development
GO:0021987 cerebral cortex development
GO:0022008 neurogenesis
GO:0030154 cell differentiation
GO:0030182 neuron differentiation
GO:0030856 regulation of epithelial cell differentiation
GO:0032526 response to retinoic acid
GO:0042127 regulation of cell proliferation
GO:0043066 negative regulation of apoptotic process
GO:0043525 positive regulation of neuron apoptotic process
GO:0045665 negative regulation of neuron differentiation
GO:0045666 positive regulation of neuron differentiation
GO:0045747 positive regulation of Notch signaling pathway
GO:0045787 positive regulation of cell cycle
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048469 cell maturation
GO:0048485 sympathetic nervous system development
GO:0048663 neuron fate commitment
GO:0048665 neuron fate specification
GO:0048666 neuron development
GO:0048699 generation of neurons
GO:0048709 oligodendrocyte differentiation
GO:0050767 regulation of neurogenesis
GO:0050769 positive regulation of neurogenesis
GO:0050883 musculoskeletal movement, spinal reflex action
GO:0051593 response to folic acid
GO:0060163 subpallium neuron fate commitment
GO:0060165 regulation of timing of subpallium neuron differentiation
GO:0060166 olfactory pit development
GO:0060487 lung epithelial cell differentiation
GO:0060579 ventral spinal cord interneuron fate commitment
GO:0061100 lung neuroendocrine cell differentiation
GO:0061102 stomach neuroendocrine cell differentiation
GO:0061103 carotid body glomus cell differentiation
GO:0061104 adrenal chromaffin cell differentiation
GO:0061549 sympathetic ganglion development
GO:0070849 response to epidermal growth factor
GO:0071259 cellular response to magnetism
GO:2000179 positive regulation of neural precursor cell proliferation
Cellular Component
GO:0005634 nucleus
GO:0043025 neuronal cell body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000020052
View Gene Order
ENSBTAG00000016227
Not yet available
Pathways
NETPATH
NetPath_3
Notch pathway
REACTOME
KEGG
INOH
PID NCI
hes_heypathway
Notch-mediated HES/HEY network
Cross-References
SwissProt P50553
TrEMBL
UniProt Splice Variant
Entrez Gene 429
UniGene Hs.703025
RefSeq NM_004316
HUGO HGNC:738
OMIM 100790
CCDS CCDS31886
HPRD
IMGT
EMBL AK290539 BC001638 BC002341 BC003134 BC004425 BC031299 CH471054 L08424
GenPept AAA58376 AAH02341 AAH03134 AAH04425 AAH31299 BAF83228 EAW97703
RNA Seq Atlas 429

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca