Protein Description

Gene Symbol ASCL1
Entrez ID 429
Uniprot ID P50553
Description achaete-scute family bHLH transcription factor 1
Chromosomal Location chr12: 102,957,686-102,960,516
Ontology GO ID GO Term Definition Evidence

BP

GO:0000122

negative regulation of transcription from RNA polymerase II promoter

Any process that stops, prevents, or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IDA

BP

GO:0001764

neuron migration

The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.

IEA

BP

GO:0003358

noradrenergic neuron development

The process whose specific outcome is the progression of a noradrenergic neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.

ISS

BP

GO:0003359

noradrenergic neuron fate commitment

The process in which the developmental fate of a cell becomes restricted such that it will develop into a noradrenergic neuron.

IMP

BP

GO:0006351

transcription, DNA-templated

The cellular synthesis of RNA on a template of DNA.

IEA

BP

GO:0007219

Notch signaling pathway

A series of molecular signals initiated by the binding of an extracellular ligand to the receptor Notch on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription.

IDA

BP

GO:0007346

regulation of mitotic cell cycle

Any process that modulates the rate or extent of progress through the mitotic cell cycle.

IEA

BP

GO:0007400

neuroblast fate determination

The cell fate determination process in which a cell becomes capable of differentiating autonomously into a neuroblast cell regardless of its environment; upon determination, the cell fate cannot be reversed. An example of this process is found in Mus musculus.

IEA

BP

GO:0007405

neuroblast proliferation

The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron.

IEA

BP

GO:0010226

response to lithium ion

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lithium (Li+) ion stimulus.

IEA

BP

GO:0010468

regulation of gene expression

Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form.

ISS

BP

GO:0014003

oligodendrocyte development

The process aimed at the progression of an oligodendrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An oligodendrocyte is a type of glial cell involved in myelinating the axons in the central nervous system.

IEA

BP

GO:0021527

spinal cord association neuron differentiation

The process in which neuroepithelial cells in the neural tube acquire specialized structural and/or functional features of association neurons. Association neurons are cells located in the dorsal portion of the spinal cord that integrate sensory input. Differentiation includes the processes involved in commitment of a cell to a specific fate.

IEA

BP

GO:0021530

spinal cord oligodendrocyte cell fate specification

The process in which a cell becomes capable of differentiating autonomously into an oligodendrocyte in an environment that is neutral with respect to the developmental pathway.

IEA

BP

GO:0021750

vestibular nucleus development

The process whose specific outcome is the progression of the vestibular nucleus over time, from its formation to the mature structure.

IEA

BP

GO:0021892

cerebral cortex GABAergic interneuron differentiation

The process in which a relatively unspecialized cell acquires specialized features of a GABAergic interneuron residing in the cerebral cortex.

IEP

BP

GO:0021902

commitment of neuronal cell to specific neuron type in forebrain

The commitment of neuronal precursor cells to become specialized types of neurons in the forebrain.

IEA

BP

GO:0021954

central nervous system neuron development

The process whose specific outcome is the progression of a neuron whose cell body is located in the central nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron.

IEA

BP

GO:0021987

cerebral cortex development

The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon.

IEA

BP

GO:0022008

neurogenesis

Generation of cells within the nervous system.

IDA

BP

GO:0030856

regulation of epithelial cell differentiation

Any process that modulates the frequency, rate or extent of epithelial cell differentiation.

IEA

BP

GO:0032526

response to retinoic acid

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus.

IEP

BP

GO:0043066

negative regulation of apoptotic process

Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.

IMP

BP

GO:0043525

positive regulation of neuron apoptotic process

Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process.

IEA

BP

GO:0045665

negative regulation of neuron differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation.

IDA

BP

GO:0045666

positive regulation of neuron differentiation

Any process that activates or increases the frequency, rate or extent of neuron differentiation.

ISS

BP

GO:0045747

positive regulation of Notch signaling pathway

Any process that activates or increases the frequency, rate or extent of the Notch signaling pathway.

IEA

BP

GO:0045787

positive regulation of cell cycle

Any process that activates or increases the rate or extent of progression through the cell cycle.

IEA

BP

GO:0045892

negative regulation of transcription, DNA-templated

Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.

IDA

BP

GO:0045944

positive regulation of transcription from RNA polymerase II promoter

Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IDA

BP

GO:0048469

cell maturation

A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state.

IEA

BP

GO:0048485

sympathetic nervous system development

The process whose specific outcome is the progression of the sympathetic nervous system over time, from its formation to the mature structure. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter.

NAS

BP

GO:0048665

neuron fate specification

The process in which a cell becomes capable of differentiating autonomously into a neuron in an environment that is neutral with respect to the developmental pathway. Upon specification, the cell fate can be reversed.

IEA

BP

GO:0050883

musculoskeletal movement, spinal reflex action

Involuntary movement caused by the application of a stimulus to an organism and a subsequent movement. The signal processing of this movement takes place in the spinal cord.

IEA

BP

GO:0051593

response to folic acid

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a folic acid stimulus.

IEA

BP

GO:0060163

subpallium neuron fate commitment

The process in which in the subpallium, the developmental fate of a cell becomes restricted such that it will develop into a neuron. The subpallium is the base region of the telencephalon.

IEA

BP

GO:0060165

regulation of timing of subpallium neuron differentiation

The process controlling the timing and/or rate at which a relatively unspecialized cell in the subpallium acquires features of a neuron. The subpallium is the base region of the telencephalon.

IEA

BP

GO:0060166

olfactory pit development

The biological process whose specific outcome is the progression of the olfactory pit from an initial condition to its mature state. This process begins with the formation of the olfactory pit, which is an indentation of the olfactory placode, and ends when the pits hollows out to form the nasopharynx.

IEA

BP

GO:0060487

lung epithelial cell differentiation

The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell that contributes to the epithelium of the lung.

NAS

BP

GO:0060579

ventral spinal cord interneuron fate commitment

The process in which the developmental fate of a cell becomes restricted such that it will develop into a ventral spinal cord interneuron. Ventral spinal cord interneurons are cells located in the ventral portion of the spinal cord that transmit signals between sensory and motor neurons and are required for reflexive responses.

ISS

BP

GO:0061100

lung neuroendocrine cell differentiation

The process in which a relatively unspecialized cell acquires specialized features of a neuroendocrine cell of the lung epithelium.

IEA

BP

GO:0061102

stomach neuroendocrine cell differentiation

The process in which a relatively unspecialized cell acquires specialized features of a neuroendocrine cell of the stomach epithelium.

IEA

BP

GO:0061103

carotid body glomus cell differentiation

The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of a glomus cell of the carotid body. The carotid body is a specialized chemosensory organ that helps respond to hypoxia.

IEA

BP

GO:0061104

adrenal chromaffin cell differentiation

The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of an adrenal chromaffin cell. An adrenal chromaffin cell is a neuroendocrine cell that stores epinephrine secretory vesicles.

IEA

BP

GO:0061549

sympathetic ganglion development

The process whose specific outcome is the progression of a sympathetic ganglion over time, from its formation to the mature structure.

ISS

BP

GO:0070849

response to epidermal growth factor

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus.

IEA

BP

GO:0071259

cellular response to magnetism

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a magnetic stimulus.

IEA

BP

GO:2000179

positive regulation of neural precursor cell proliferation

Any process that activates or increases the frequency, rate or extent of neural precursor cell proliferation.

IEA

CC

GO:0005634

nucleus

A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

IDA

CC

GO:0043025

neuronal cell body

The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.

IEA

CC

GO:0090575

RNA polymerase II transcription factor complex

A transcription factor complex that acts at promoters of genes transcribed by RNA polymerase II.

IBA

MF

GO:0000978

RNA polymerase II core promoter proximal region sequence-specific DNA binding

Interacting selectively and non-covalently with a sequence of DNA that is in cis with and relatively close to a core promoter for RNA polymerase II.

IDA

MF

GO:0000989

transcription factor activity, transcription factor binding

Interacting selectively and non-covalently with a specific transcription factor, which may be a single protein or a complex, in order to modulate transcription. A protein binding transcription factor may or may not also interact with the template nucleic acid (either DNA or RNA) as well.

ISS

MF

GO:0001078

transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding

Interacting selectively and non-covalently with a sequence of DNA that is in cis with and relatively close to a core promoter for RNA polymerase II (RNAP II) in order to stop, prevent, or reduce the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IDA

MF

GO:0003677

DNA binding

Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

ISS

MF

GO:0003682

chromatin binding

Interacting selectively and non-covalently with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.

IEA

MF

GO:0003700

transcription factor activity, sequence-specific DNA binding

Interacting selectively and non-covalently with a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex.

IDA

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0042803

protein homodimerization activity

Interacting selectively and non-covalently with an identical protein to form a homodimer.

IEA

MF

GO:0043425

bHLH transcription factor binding

Interacting selectively and non-covalently with any of the basic Helix-Loop-Helix (bHLH) superfamily of transcription factors, important regulatory components in transcriptional networks of many developmental pathways.

IPI

MF

GO:0070888

E-box binding

Interacting selectively and non-covalently with an E-box, a DNA motif with the consensus sequence CANNTG that is found in the promoters of a wide array of genes expressed in neurons, muscle and other tissues.

IDA

Domain ID Description

IPR011598

Myc-type, basic helix-loop-helix (bHLH) domain

IPR015660

Achaete-scute transcription factor-related

Pathway ID Pathway Term Pathway Source

WP706

Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways

WikiPathways

WP2064

Neural Crest Differentiation

WikiPathways

WP2855

Dopaminergic Neurogenesis

WikiPathways

UMLS CUI UMLS Term

C0027765

Nervous System Disorder

C0149925

Small Cell Carcinoma Of Lung

C0242488

Acute Lung Injury

C3714756

Intellectual Disability

Tissue Cell Type

cerebral cortex

glial cells

cerebral cortex

neuropil

hippocampus

glial cells

No databases found.

Pubmed ID Author Year Title

19141577

Kim et al.

2009

Transcriptional Profiling with a Pathway-Oriented Analysis Identifies Dysregulated Molecular Phenotypes in the Endometrium of Patients with Polycystic Ovary Syndrome

Gene Symbol Entrez ID Uniprot ID Score

MEF2C

4208

Q06413

0.63

MEF2D

4209

Q14814

0.63

MTNR1A

4543

P48039

0.63

TCF3

6929

P15923

0.68

EP300

2033

Q09472

0.73

ASCL1

429

P50553

0.75

BMP2

650

P12643

0.52

UBQLN1

29979

Q9UMX0

0.63

NEUROG2

63973

Q9H2A3

0.65

TCF4

6925

P15884

0.78

MEF2A

4205

Q02078

0.89