ASCL1 | ENSG00000139352 | NCBI 429

Details for: ASCL1

Gene ID: 429

Symbol: ASCL1

Ensembl ID: ENSG00000139352

Description: achaete-scute family bHLH transcription factor 1

Associated with

Ngf-stimulated transcription
(R-HSA-9031628)
Nuclear events (kinase and transcription factor activation)
(R-HSA-198725)
Signaling by ntrk1 (trka)
(R-HSA-187037)
Signaling by ntrks
(R-HSA-166520)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signal transduction
(R-HSA-162582)
Adrenal chromaffin cell differentiation
(GO:0061104)
Bhlh transcription factor binding
(GO:0043425)
Carotid body glomus cell differentiation
(GO:0061103)
Cell maturation
(GO:0048469)
Cellular response to magnetism
(GO:0071259)
Central nervous system neuron development
(GO:0021954)
Cerebral cortex development
(GO:0021987)
Cerebral cortex gabaergic interneuron differentiation
(GO:0021892)
Chromatin
(GO:0000785)
Chromatin binding
(GO:0003682)
Commitment of neuronal cell to specific neuron type in forebrain
(GO:0021902)
Dna-binding transcription factor activity
(GO:0003700)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Dna-binding transcription repressor activity, rna polymerase ii-specific
(GO:0001227)
E-box binding
(GO:0070888)
Heart development
(GO:0007507)
Identical protein binding
(GO:0042802)
Lung epithelial cell differentiation
(GO:0060487)
Lung neuroendocrine cell differentiation
(GO:0061100)
Motor neuron migration
(GO:0097475)
Musculoskeletal movement, spinal reflex action
(GO:0050883)
Negative regulation of apoptotic process
(GO:0043066)
Negative regulation of dna-templated transcription
(GO:0045892)
Negative regulation of neuron differentiation
(GO:0045665)
Negative regulation of transcription by rna polymerase ii
(GO:0000122)
Neuroblast fate determination
(GO:0007400)
Neuroblast proliferation
(GO:0007405)
Neurogenesis
(GO:0022008)
Neuronal cell body
(GO:0043025)
Neuron development
(GO:0048666)
Neuron differentiation
(GO:0030182)
Neuron fate commitment
(GO:0048663)
Neuron fate specification
(GO:0048665)
Noradrenergic neuron development
(GO:0003358)
Noradrenergic neuron fate commitment
(GO:0003359)
Notch signaling pathway
(GO:0007219)
Nucleic acid binding
(GO:0003676)
Nucleus
(GO:0005634)
Olfactory pit development
(GO:0060166)
Oligodendrocyte development
(GO:0014003)
Peripheral nervous system neuron development
(GO:0048935)
Positive regulation of cell cycle
(GO:0045787)
Positive regulation of neural precursor cell proliferation
(GO:2000179)
Positive regulation of neurogenesis
(GO:0050769)
Positive regulation of neuron apoptotic process
(GO:0043525)
Positive regulation of neuron differentiation
(GO:0045666)
Positive regulation of notch signaling pathway
(GO:0045747)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Protein binding
(GO:0005515)
Protein dimerization activity
(GO:0046983)
Regulation of epithelial cell differentiation
(GO:0030856)
Regulation of gene expression
(GO:0010468)
Regulation of mitotic cell cycle
(GO:0007346)
Regulation of neurogenesis
(GO:0050767)
Regulation of timing of subpallium neuron differentiation
(GO:0060165)
Response to epidermal growth factor
(GO:0070849)
Response to folic acid
(GO:0051593)
Response to retinoic acid
(GO:0032526)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Rna polymerase ii transcription regulator complex
(GO:0090575)
Rna polymerase ii transcription regulatory region sequence-specific dna binding
(GO:0000977)
Sensory organ development
(GO:0007423)
Sequence-specific double-stranded dna binding
(GO:1990837)
Spinal cord association neuron differentiation
(GO:0021527)
Spinal cord oligodendrocyte cell fate specification
(GO:0021530)
Stomach neuroendocrine cell differentiation
(GO:0061102)
Subpallium neuron fate commitment
(GO:0060163)
Sympathetic ganglion development
(GO:0061549)
Sympathetic nervous system development
(GO:0048485)
Ventral spinal cord interneuron fate commitment
(GO:0060579)
Vestibular nucleus development
(GO:0021750)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: embryonic stem cell (CL0002322)
Fold Change: 47.6517
Cell Significance Index: -19.6300
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 8.0942
Cell Significance Index: 284.4200
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 3.6304
Cell Significance Index: 222.5800
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 3.2084
Cell Significance Index: 66.5600
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 2.1784
Cell Significance Index: 47.2000
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 1.7450
Cell Significance Index: 55.8900
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 1.3620
Cell Significance Index: 61.7400
Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 1.2938
Cell Significance Index: 10.7000
Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: 0.9174
Cell Significance Index: 13.8300
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.6159
Cell Significance Index: 60.9300
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.5641
Cell Significance Index: 509.3700
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 0.3680
Cell Significance Index: 20.6500
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.3210
Cell Significance Index: 52.2000
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.2680
Cell Significance Index: 29.1500
Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: 0.2182
Cell Significance Index: 5.2900
Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
Fold Change: 0.1463
Cell Significance Index: 1.3300
Cell Name: granulosa cell (CL0000501)
Fold Change: 0.1327
Cell Significance Index: 3.4900
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.1093
Cell Significance Index: 20.8000
Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: 0.0892
Cell Significance Index: 0.5800
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0777
Cell Significance Index: 27.8700
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.0760
Cell Significance Index: 4.5700
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.0711
Cell Significance Index: 4.9200
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: 0.0418
Cell Significance Index: 26.0800
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.0040
Cell Significance Index: 0.0800
Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.0030
Cell Significance Index: -0.1300
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0050
Cell Significance Index: -3.6700
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0112
Cell Significance Index: -21.1100
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.0120
Cell Significance Index: -0.3000
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.0135
Cell Significance Index: -0.8300
Cell Name: neural cell (CL0002319)
Fold Change: -0.0189
Cell Significance Index: -0.2200
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.0191
Cell Significance Index: -0.5500
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0200
Cell Significance Index: -11.2800
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.0213
Cell Significance Index: -4.2700
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0280
Cell Significance Index: -21.2000
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0304
Cell Significance Index: -19.3000
Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0353
Cell Significance Index: -19.3000
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: -0.0385
Cell Significance Index: -0.5900
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0423
Cell Significance Index: -19.2200
Cell Name: glioblast (CL0000030)
Fold Change: -0.0430
Cell Significance Index: -0.2700
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0442
Cell Significance Index: -9.3100
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0535
Cell Significance Index: -9.1400
Cell Name: radial glial cell (CL0000681)
Fold Change: -0.0556
Cell Significance Index: -0.3300
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0647
Cell Significance Index: -18.6300
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.0813
Cell Significance Index: -3.7900
Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.0865
Cell Significance Index: -17.1700
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.1023
Cell Significance Index: -10.4600
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.1189
Cell Significance Index: -16.3300
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.1233
Cell Significance Index: -14.3700
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.1326
Cell Significance Index: -19.2700
Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.1424
Cell Significance Index: -16.2600
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.1591
Cell Significance Index: -4.3300
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.1695
Cell Significance Index: -19.9900
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1880
Cell Significance Index: -21.5400
Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.1978
Cell Significance Index: -4.1400
Cell Name: neural progenitor cell (CL0011020)
Fold Change: -0.2567
Cell Significance Index: -2.5400
Cell Name: peripheral nervous system neuron (CL2000032)
Fold Change: -0.2792
Cell Significance Index: -2.1700
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.3013
Cell Significance Index: -20.2600
Cell Name: pulmonary capillary endothelial cell (CL4028001)
Fold Change: -0.3242
Cell Significance Index: -4.4400
Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.3452
Cell Significance Index: -17.9800
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.3533
Cell Significance Index: -22.2700
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.3546
Cell Significance Index: -18.6200
Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: -0.3716
Cell Significance Index: -4.0400
Cell Name: osteoblast (CL0000062)
Fold Change: -0.3762
Cell Significance Index: -3.6500
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: -0.3994
Cell Significance Index: -4.3600
Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.4703
Cell Significance Index: -11.2800
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.4828
Cell Significance Index: -22.6900
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.4892
Cell Significance Index: -21.6400
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.4951
Cell Significance Index: -16.2100
Cell Name: enteric neuron (CL0007011)
Fold Change: -0.5071
Cell Significance Index: -3.6700
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.5130
Cell Significance Index: -17.9700
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.5298
Cell Significance Index: -27.5200
Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.5419
Cell Significance Index: -18.8300
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.5694
Cell Significance Index: -21.5600
Cell Name: blood vessel smooth muscle cell (CL0019018)
Fold Change: -0.5698
Cell Significance Index: -5.3800
Cell Name: photoreceptor cell (CL0000210)
Fold Change: -0.5781
Cell Significance Index: -8.1200
Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
Fold Change: -0.5882
Cell Significance Index: -3.0800
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.6026
Cell Significance Index: -13.0200
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.6035
Cell Significance Index: -19.2200
Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: -0.6043
Cell Significance Index: -3.7400
Cell Name: muscle fibroblast (CL1001609)
Fold Change: -0.6595
Cell Significance Index: -4.0400
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.6607
Cell Significance Index: -19.4600
Cell Name: microcirculation associated smooth muscle cell (CL0008035)
Fold Change: -0.6658
Cell Significance Index: -5.5900
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.6686
Cell Significance Index: -19.6400
Cell Name: chondroblast (CL0000058)
Fold Change: -0.6814
Cell Significance Index: -4.0000
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.6867
Cell Significance Index: -18.3400
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.6883
Cell Significance Index: -19.7300
Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: -0.7106
Cell Significance Index: -17.7200
Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.7156
Cell Significance Index: -20.4200
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.7158
Cell Significance Index: -19.1800
Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: -0.7210
Cell Significance Index: -12.3300
Cell Name: type I muscle cell (CL0002211)
Fold Change: -0.7344
Cell Significance Index: -17.9200
Cell Name: erythrocyte (CL0000232)
Fold Change: -0.7359
Cell Significance Index: -18.7500
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.7510
Cell Significance Index: -20.0900
Cell Name: keratinocyte (CL0000312)
Fold Change: -0.7613
Cell Significance Index: -19.0200
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.7673
Cell Significance Index: -19.1400
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -0.7679
Cell Significance Index: -16.4200
Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.7976
Cell Significance Index: -17.4700
Cell Name: peg cell (CL4033014)
Fold Change: -0.7982
Cell Significance Index: -18.4400
Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.8201
Cell Significance Index: -11.7500
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.8238
Cell Significance Index: -17.4900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics** 1. **Transcription factor**: ASCL1 is a transcription factor that regulates gene expression by binding to specific DNA sequences, thereby modulating the transcription of target genes. 2. **bHLH family member**: ASCL1 belongs to the achaete-scute family of bHLH transcription factors, which are known for their role in neuronal development and differentiation. 3. **Tissue-specific expression**: ASCL1 is highly expressed in specific cell types, including neuroblasts, motor neurons, and neural crest cells, highlighting its role in neuronal development and differentiation. 4. **Regulatory functions**: ASCL1 regulates various cellular processes, including cell differentiation, proliferation, apoptosis, and gene expression, through its transcriptional activity. **Pathways and Functions** 1. **Neuronal development and differentiation**: ASCL1 plays a critical role in the development and differentiation of neurons, including neuroblast and motor neuron development, as well as the specification of neuronal cell fate. 2. **Cell maturation and survival**: ASCL1 regulates cell maturation and survival by modulating the expression of genes involved in neuronal function and survival. 3. **Apoptosis regulation**: ASCL1 acts as a negative regulator of apoptosis, promoting cell survival and preventing excessive cell death. 4. **Gene expression regulation**: ASCL1 regulates gene expression by binding to specific DNA sequences and modulating the transcription of target genes. 5. **Signaling pathways**: ASCL1 interacts with various signaling pathways, including Notch signaling, to regulate cellular processes. **Clinical Significance** 1. **Neurological disorders**: Mutations in the ASCL1 gene have been associated with neurological disorders, such as neuroblastoma and other cancers of the nervous system. 2. **Neurodevelopmental disorders**: ASCL1 dysregulation has been implicated in neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. 3. **Cancer research**: ASCL1 is a potential target for cancer therapy, as its dysregulation has been linked to the development and progression of various cancers. 4. **Neuroprotection**: ASCL1 may play a role in neuroprotection, as its expression is associated with neuronal survival and resistance to apoptosis. In conclusion, ASCL1 is a critical transcription factor that regulates various cellular processes, including neuronal development, differentiation, and survival. Its dysregulation has been implicated in various diseases, including neurological disorders, cancer, and neurodevelopmental disorders. Further research is needed to fully elucidate the functions and clinical significance of ASCL1.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

ASCL1_HUMAN

Genular Protein ID: 3459854380

Symbol: ASCL1_HUMAN

Name: N/A

UniProtKB Accession Codes:

P50553 A8K3C4 Q9BQ30

Database IDs:

Citations:

PubMed ID: 8390674

Title: Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors.

PubMed ID: 8390674

DOI: 10.1073/pnas.90.12.5648

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10903890

Title: HASH-1 and E2-2 are expressed in human neuroblastoma cells and form a functional complex.

PubMed ID: 10903890

DOI: 10.1006/bbrc.2000.3090

PubMed ID: 38287449

Title: Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

PubMed ID: 38287449

DOI: 10.1111/cge.14485

Sequence Information:

Length: 236
Mass: 25454
Checksum: A7D784329305B49A
Sequence:

MESSAKMESG GAGQQPQPQP QQPFLPPAAC FFATAAAAAA AAAAAAAQSA QQQQQQQQQQ 
QQAPQLRPAA DGQPSGGGHK SAPKQVKRQR SSSPELMRCK RRLNFSGFGY SLPQQQPAAV 
ARRNERERNR VKLVNLGFAT LREHVPNGAA NKKMSKVETL RSAVEYIRAL QQLLDEHDAV 
SAAFQAGVLS PTISPNYSND LNSMAGSPVS SYSSDEGSYD PLSPEEQELL DFTNWF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ASCL1

Associated with

Cells (max top 100)

Other Information

Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors. PubMed ID: 8390674

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334