ASCL1 - achaete-scute family bHLH transcription factor 1 Gene

Also Known as ASH1; HASH1; MASH1; bHLHa46

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 429

About ASCL1

Cytogenetic location: 12q23.2 Genomic coordinates (GRCh38): 12:102,957,674-102,960,513 (from NCBI)

This gene has 1 transcript (splice variant), 176 orthologues, 4 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 6.3), stomach (RPKM 0.9) and 1 other tissue.

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]

ASCL1 Products (1)

mRNA	Protein	Name
NM_004316.4	NP_004307.2	achaete-scute homolog 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	10903890	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11736660	GOA
enables E-box binding	IDA IDA: Inferred from direct assay	10903890	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11736660	GOA
enables bHLH transcription factor binding	IPI IPI: Inferred from physical interaction	10903890	GOA
enables nucleic acid binding	EXP EXP: Inferred from Experiment	28402879	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10903890	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Notch signaling pathway	IDA IDA: Inferred from direct assay	16160079	GOA
involved in cerebral cortex GABAergic interneuron differentiation	IEP IEP: Inferred from expression pattern	12050665	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11736660	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	17507989	GOA
involved in negative regulation of neuron differentiation	IDA IDA: Inferred from direct assay	12000752	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11736660	GOA
involved in neurogenesis	IDA IDA: Inferred from direct assay	19008346	GOA
involved in noradrenergic neuron fate commitment	IMP IMP: Inferred from mutant phenotype	14532329	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10903890	GOA
involved in response to retinoic acid	IEP IEP: Inferred from expression pattern	12000752	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	12858003	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ASCL1 Protein Structure

HLH

0
100
200
236 a.a.

Protein Preferred Names	Protein Names
achaete-scute homolog 1	ASH-1

ASCL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ASCL1	P50553	SMARCC1	Homo sapiens	Q92922	Anti Bait CoIP	36931659
Intra	ASCL1	P50553	TCF4	Homo sapiens	P15884	Pull Down	10903890
Intra	ASCL1	P50553	TCF4	Homo sapiens	P15884	Anti Tag CoIP	33961781
Intra	ASCL1	P50553	TCF4	Homo sapiens	P15884	Y2H	10903890
Intra	ASCL1	P50553	TCF4	Homo sapiens	P15884	EMSA	10903890
Intra	ASCL1	P50553	ARID1A	Homo sapiens	O14497	Anti Bait CoIP	36931659
Intra	ASCL1	P50553	UBQLN1	Homo sapiens	Q9UMX0	Validated Y2H	32296183
Intra	ASCL1	P50553	TCF3	Homo sapiens	P15923	Anti Tag CoIP	33961781
Intra	ASCL1	P50553	TCF3	Homo sapiens	P15923	Pull Down	10903890
Intra	ASCL1	P50553	TCF3	Homo sapiens	P15923	Y2H	10903890
Intra	ASCL1	P50553	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

ASCL1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81381	MASH1/Achaete-scute homolog 1 Antibody (YA1126)	IHC-P	Human
HY-P81381A	MASH1/Achaete-scute homolog 1 Antibody (YA1126)(PBS only)	IHC-P	Human

Related Diseases

Diseases	Alias
Congenital Central Hypoventilation Syndrome	Cchs Haddad Syndrome Ondine Curse Ondine Syndrome Congenital Central Hypoventilation Congenital Central Alveolar Hypoventilation Syndrome Congenital Failure Of Autonomic Control Ondine'S Curse Primary Alveolar Hypoventilation Ondine-Hirschsprung Disease Central Congenital Hypoventilation Syndrome Congenital Ondine Curse Idiopathic Congenital Central Alveolar Hypoventilation Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome Ondine-Hirschsprung Syndrome
Central Hypoventilation Syndrome, Congenital, 1	Cchs CCHS1 Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung Disease Central Hypoventilation Syndrome, Congenital Congenital Failure Of Autonomic Control Autonomic Control, Congenital Failure Of Ondine Curse, Congenital Ondine Curse Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung Hypoventilation, Central, Syndrome, Congenital, Type 1 Congenital Central Hypoventilation Sleep Apnea, Central Central Alveolar Hypoventilation Syndrome Cchs With Hirschsprung Disease Congenital Central Alveolar Hypoventilation Syndrome Sleep-Related Respiratory Failure Hypoventilation
Differentiating Neuroblastoma
Neuroendocrine Tumor	Neuroendocrine Neoplasm Neuroendocrine Tumors Carcinoma, Neuroendocrine
Neuroendocrine Carcinoma	Neuroendocrine Cancer Carcinoma Neuroendocrine Carcinoma, Neuroendocrine
Thyroid Carcinoma, Familial Medullary	Medullary Thyroid Carcinoma Familial Medullary Thyroid Carcinoma MTC Medullary Thyroid Cancer Fmtc Mtc1 Thyroid Cancer, Medullary Thyroid Carcinoma, Medullary Familial Mtc Thyroid Carcinoma Medullary Carcinoma, Thyroid, Medullary, Familial Medullary Carcinoma Of Thyroid Medullary Carcinoma With Amyloid Stroma, Unspecified Site Medullary Carcinoma With Amyloid Stroma Of Thyroid
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Pulmonary Neuroendocrine Tumor	Neuroendocrine Neoplasm Of Lung
Merkel Cell Carcinoma	Trabecular Adenocarcinoma Cutaneous Neuroendocrine Carcinoma Trabecular Carcinoma Carcinoma, Merkel Cell Merkel Cell Cancer Merkle Tumors Mcc Carcinoma Merkel Cell
Small Cell Cancer Of The Lung	Small Cell Lung Cancer Small Cell Lung Carcinoma Sclc Small-Cell Cancer Of Lung Lung Small Cell Carcinoma Sclc1 Sccl Cancer, Lung, Small Cell Small Cell Carcinoma Of Lung Carcinoma, Small Cell
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Pulmonary Large Cell Neuroendocrine Carcinoma	Large Cell Lung Neuroendocrine Carcinoma
Microcephaly 6, Primary, Autosomal Recessive	MCPH6 Primary Autosomal Recessive Microcephaly 6 Microcephaly, Primary Autosomal Recessive, 6 Microcephaly, Type 6, Primary, Autosomal Recessive
Large Cell Neuroendocrine Carcinoma
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Lung Large Cell Carcinoma	Large Cell Carcinoma Of Lung Large Cell Lung Carcinoma Large Cell Lung Cancer
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Familial Dysautonomia Riley-Day Syndrome Dysautonomia, Familial HSAN3 Hsan Iii Fd Hereditary Sensory And Autonomic Neuropathy Type Iii Dys Hereditary Sensory And Autonomic Neuropathy 3 Riley Day Syndrome Familial Autonomic Nervous Dysfunction Hereditary Sensory Autonomic Neuropathy Type Iii Hsan 3 Hsn 3 Hereditary Sensory Neuropathy Type 3 Hsan Type Iii Hsn-Iii Hereditary Sensory And Autonomic Neuropathy Type 3 Neuropathy, Hereditary Sensory And Autonomic, 3 Hsn Iii Dysautonomia Familial Neuropathy, Sensory And Autonomic, Hereditary, Type Iii Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]
Pitt-Hopkins Syndrome	PTHS Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea Pitt Hopkins Syndrome Phs Encephalopathy Severe Epileptic With Autonomic Dysfunction
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-155218	TMX-2172	Degrader	99.38%	Unkown
HY-RS01078	ASCL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174778	Human ASCL1 mRNA		/	Unkown
HY-RS21486	Ascl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28004	Ascl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991871	Anti-ASCL1 Antibody		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ASCL1	MGD	MGI:96919
Felis catus	ASCL1	VGNC	VGNC:82446
Canis familiaris	ASCL1	VGNC	VGNC:38173
Macaca mulatta	ASCL1	VGNC	VGNC:70029
Bos taurus	ASCL1	VGNC	VGNC:26206
Rattus norvegicus	ASCL1	RGD	RGD:71010
Others	ASCL1	NCBI