ASCL1 - achaete-scute family bHLH transcription factor 1 Gene

Homo sapiens

Also known as ASH1; HASH1; MASH1; bHLHa46

Gene ID: 429 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01078	ASCL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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