• Gene id: 429

Gene Summary

• Gene Symbol: ASCL1   Gene   UCSC   Ensembl
• Aliases: ASH1, HASH1, MASH1, bHLHa46
• Gene name: achaete-scute family bHLH transcription factor 1
• Alternate names: achaete-scute homolog 1, ASH-1, achaete scute protein, achaete-scute complex homolog 1, achaete-scute complex-like 1, class A basic helix-loop-helix protein 46,
• Gene location: 12q23.2 (102957673: 102960512)     Exons: 2     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 100790

SNPs

rs9852810

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.37027478G>A
NC_000003.11   g.37068969G>A
NG_007109.2   g.39129G>A|SEQ=[G/A]|GENE=MLH1

rs4647269

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.37016100C>T
NC_000003.11   g.37057591C>T
NG_007109.2   g.27751C>T|SEQ=[C/T]|GENE=MLH1

rs1800734

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.36993455G>A
NC_000003.12   g.36993455G>C
NC_000003.11   g.37034946G>A
NC_000003.11   g.37034946G>C
NG_007109.2   g.5106G>A
NG_007109.2   g.5106G>C
NM_000249.3   c.-93G>A
NM_000249.3   c.-93G>C
NM_001258274.2   c.-1188G>A
NM_001258274.2   c.-1188G>C
NM_0  

Protein Summary

• Protein general information: P50553  
  • Name: Achaete scute homolog 1 (ASH 1) (hASH1) (Class A basic helix loop helix protein 46) (bHLHa46)
  • Length: 236  
  • Mass: 25454
• Sequence:

  MESSAKMESGGAGQQPQPQPQQPFLPPAACFFATAAAAAAAAAAAAAQSAQQQQQQQQQQQQAPQLRPAADGQPS
  GGGHKSAPKQVKRQRSSSPELMRCKRRLNFSGFGYSLPQQQPAAVARRNERERNRVKLVNLGFATLREHVPNGAA
  NKKMSKVETLRSAVEYIRALQQLLDEHDAVSAAFQAGVLSPTISPNYSNDLNSMAGSPVSSYSSDEGSYDPLSPE
  EQELLDFTNWF

• Structural information:
  • Protein Domains: (118..17-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR015660  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000266744
• Other Databases: GeneCards:  ASCL1  Malacards:  ASCL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0090575	RNA polymerase II transcription regulator complex	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0050767	regulation of neurogenesis	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030182	neuron differentiation	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0007423	sensory organ development	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0061549	sympathetic ganglion development	ISS	biological process
GO:0045666	positive regulation of neuron differentiation	ISS	biological process
GO:0060579	ventral spinal cord interneuron fate commitment	ISS	biological process
GO:0010468	regulation of gene expression	ISS	biological process
GO:0003358	noradrenergic neuron development	ISS	biological process
GO:0048666	neuron development	ISS	biological process
GO:0048665	neuron fate specification	ISS	biological process
GO:0048663	neuron fate commitment	ISS	biological process
GO:0030182	neuron differentiation	ISS	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071259	cellular response to magnetism	IEA	biological process
GO:0051593	response to folic acid	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0010226	response to lithium ion	IEA	biological process
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:2000179	positive regulation of neural precursor cell proliferation	IEA	biological process
GO:0061549	sympathetic ganglion development	IEA	biological process
GO:0061100	lung neuroendocrine cell differentiation	IEA	biological process
GO:0050769	positive regulation of neurogenesis	IEA	biological process
GO:0048699	generation of neurons	IEA	biological process
GO:0045787	positive regulation of cell cycle	IEA	biological process
GO:0045747	positive regulation of Notch signaling pathway	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0030856	regulation of epithelial cell differentiation	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0021750	vestibular nucleus development	IEA	biological process
GO:0021529	spinal cord oligodendrocyte cell differentiation	IEA	biological process
GO:0021527	spinal cord association neuron differentiation	IEA	biological process
GO:0014003	oligodendrocyte development	IEA	biological process
GO:0007405	neuroblast proliferation	IEA	biological process
GO:0007400	neuroblast fate determination	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0070849	response to epidermal growth factor	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0032526	response to retinoic acid	IEA	biological process
GO:0021879	forebrain neuron differentiation	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0061104	adrenal chromaffin cell differentiation	IEA	biological process
GO:0061103	carotid body glomus cell differentiation	IEA	biological process
GO:0061102	stomach neuroendocrine cell differentiation	IEA	biological process
GO:0060579	ventral spinal cord interneuron fate commitment	IEA	biological process
GO:0060166	olfactory pit development	IEA	biological process
GO:0060165	regulation of timing of subpallium neuron differentiation	IEA	biological process
GO:0060163	subpallium neuron fate commitment	IEA	biological process
GO:0050883	musculoskeletal movement, spinal reflex action	IEA	biological process
GO:0050767	regulation of neurogenesis	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0048665	neuron fate specification	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0030182	neuron differentiation	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0021954	central nervous system neuron development	IEA	biological process
GO:0021902	commitment of neuronal cell to specific neuron type in forebrain	IEA	biological process
GO:0021779	oligodendrocyte cell fate commitment	IEA	biological process
GO:0021530	spinal cord oligodendrocyte cell fate specification	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010001	glial cell differentiation	IEA	biological process
GO:0008593	regulation of Notch signaling pathway	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007346	regulation of mitotic cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003358	noradrenergic neuron development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0022008	neurogenesis	IDA	biological process
GO:0007219	Notch signaling pathway	IDA	biological process
GO:0070888	E-box binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045665	negative regulation of neuron differentiation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0048485	sympathetic nervous system development	NAS	biological process
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0021892	cerebral cortex GABAergic interneuron differentiation	IEP	biological process
GO:0060487	lung epithelial cell differentiation	NAS	biological process
GO:0032526	response to retinoic acid	IEP	biological process
GO:0003359	noradrenergic neuron fate commitment	IMP	biological process

Diseases

Associated diseases	References
Congenital central hypoventilation syndrome	KEGG:H00916
Congenital central hypoventilation syndrome	KEGG:H00916
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)