ASCL1 achaete-scute family bHLH transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASCL1provided by HGNC
Official Full Name: achaete-scute family bHLH transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:738
See related: Ensembl:ENSG00000139352 MIM:100790; AllianceGenome:HGNC:738
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ASH1; HASH1; MASH1; bHLHa46
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]
Expression: Biased expression in brain (RPKM 6.3), stomach (RPKM 0.9) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 12q23.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (102957674..102960513)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (102918498..102921335)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (103351452..103354291)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Title: Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
ASCL1 induces neurogenesis in human Muller glia.
Title: ASCL1 induces neurogenesis in human Müller glia.
ASCL1 Is Involved in the Pathogenesis of Schizophrenia by Regulation of Genes Related to Cell Proliferation, Neuronal Signature Formation, and Neuroplasticity.
Title: ASCL1 Is Involved in the Pathogenesis of Schizophrenia by Regulation of Genes Related to Cell Proliferation, Neuronal Signature Formation, and Neuroplasticity.
Ubiquitination of ASCL1 mediates CD47 transcriptional activation of the AKT signaling pathway, and glycolysis promotes osteogenic differentiation of hBMSCs.
Title: Ubiquitination of ASCL1 mediates CD47 transcriptional activation of the AKT signaling pathway, and glycolysis promotes osteogenic differentiation of hBMSCs.
ASCL1 is activated downstream of the ROR2/CREB signaling pathway to support lineage plasticity in prostate cancer.
Title: ASCL1 is activated downstream of the ROR2/CREB signaling pathway to support lineage plasticity in prostate cancer.
An integrative epigenomic approach identifies ELF3 as an oncogenic regulator in ASCL1-positive neuroendocrine carcinoma.
Title: An integrative epigenomic approach identifies ELF3 as an oncogenic regulator in ASCL1-positive neuroendocrine carcinoma.
Validation of ASCL1 and LHX8 Methylation Analysis as Primary Cervical Cancer Screening Strategy in South African Women with Human Immunodeficiency Virus.
Title: Validation of ASCL1 and LHX8 Methylation Analysis as Primary Cervical Cancer Screening Strategy in South African Women with Human Immunodeficiency Virus.
ASCL1 regulates super-enhancer-associated miRNAs to define molecular subtypes of small cell lung cancer.
Title: ASCL1 regulates super-enhancer-associated miRNAs to define molecular subtypes of small cell lung cancer.
REST Inactivation and Coexpression of ASCL1 and POU3F4 Are Necessary for the Complete Transformation of RB1/TP53-Inactivated Lung Adenocarcinoma into Neuroendocrine Carcinoma.
Title: REST Inactivation and Coexpression of ASCL1 and POU3F4 Are Necessary for the Complete Transformation of RB1/TP53-Inactivated Lung Adenocarcinoma into Neuroendocrine Carcinoma.
Posttreatment monitoring by ASCL1/LHX8 methylation analysis in women with HIV treated for cervical intraepithelial neoplasia grade 2/3.
Title: Posttreatment monitoring by ASCL1/LHX8 methylation analysis in women with HIV treated for cervical intraepithelial neoplasia grade 2/3.

Submit: New GeneRIF Correction See all GeneRIFs (91)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ASCL1_704 (e-PCR)
- UniSTS:277017

ASCL1_V82 (e-PCR)
- UniSTS:277017

WI-9226 (e-PCR)
- UniSTS:45395

G10653 (e-PCR)
- UniSTS:16485

RH92884 (e-PCR)
- UniSTS:87658

GDB:384904 (e-PCR)
- UniSTS:157118

SHGC-146165 (e-PCR)
- UniSTS:175050

STS-L08424 (e-PCR)
- UniSTS:49387

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables bHLH transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adrenal chromaffin cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in carotid body glomus cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell maturation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to magnetism	IEA Inferred from Electronic Annotation more info
involved_in central nervous system neuron development	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex GABAergic interneuron differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
involved_in commitment of neuronal cell to specific neuron type in forebrain	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in lung epithelial cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in lung neuroendocrine cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in motor neuron migration	IEA Inferred from Electronic Annotation more info
involved_in musculoskeletal movement, spinal reflex action	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in neuroblast fate determination	IEA Inferred from Electronic Annotation more info
involved_in neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in neurogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron fate commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron fate specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in noradrenergic neuron development	ISS Inferred from Sequence or Structural Similarity more info
involved_in noradrenergic neuron fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in olfactory pit development	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte development	IEA Inferred from Electronic Annotation more info
involved_in peripheral nervous system neuron development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell cycle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neural precursor cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in regulation of neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of timing of subpallium neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in response to epidermal growth factor	IEA Inferred from Electronic Annotation more info
involved_in response to folic acid	IEA Inferred from Electronic Annotation more info
involved_in response to retinoic acid	IEP Inferred from Expression Pattern more info	PubMed
involved_in sensory organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in spinal cord association neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in spinal cord oligodendrocyte cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in stomach neuroendocrine cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in subpallium neuron fate commitment	IEA Inferred from Electronic Annotation more info
involved_in sympathetic ganglion development	ISS Inferred from Sequence or Structural Similarity more info
involved_in sympathetic nervous system development	NAS Non-traceable Author Statement more info	PubMed
involved_in ventral spinal cord interneuron fate commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in vestibular nucleus development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: achaete-scute homolog 1

Names: ASH-1; achaete scute protein; achaete-scute complex homolog 1; achaete-scute complex-like 1; class A basic helix-loop-helix protein 46

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.