• Gene id: 56676

Gene Summary

• Gene Symbol: ASCL3   Gene   UCSC   Ensembl
• Aliases: HASH3, SGN1, bHLHa42
• Gene name: achaete-scute family bHLH transcription factor 3
• Alternate names: achaete-scute homolog 3, achaete-scute complex homolog 3, bHLH transcription factor Sgn-1 (Salivary Glands 1), bHLH transcriptional regulator Sgn-1, class A basic helix-loop-helix protein 42,
• Gene location: 11p15.4 (135497770: 135283531)     Exons: 35     NC_000006.12
• Gene summary(Entrez): Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]
• OMIM: 609154

Protein Summary

• Protein general information: Q9NQ33  
  • Name: Achaete scute homolog 3 (ASH 3) (hASH3) (Class A basic helix loop helix protein 42) (bHLHa42) (bHLH transcriptional regulator Sgn 1)
  • Length: 180  
  • Mass: 20797
  • Tissue specificity: Widely expressed in fetal and adult tissues. {ECO
• Sequence:

  MDNRGNSSLPDKLPIFPDSARLPLTRSFYLEPMVTFHVHPEAPVSSPYSEELPRLPFPSDSLILGNYSEPCPFSF
  PMPYPNYRGCEYSYGPAFTRKRNERERQRVKCVNEGYAQLRHHLPEEYLEKRLSKVETLRAAIKYINYLQSLLYP
  DKAETKNNPGKVSSMIATTSHHADPMFRIV

• Structural information:
  • Protein Domains: (92..14-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR015660  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000435770
• Other Databases: GeneCards:  ASCL3  Malacards:  ASCL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
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:0003700	DNA-binding transcription factor activity	IBA	contributes to
GO:0008134	transcription factor binding	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	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:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	ISS	biological process
GO:0003677	DNA binding	ISS	molecular function

Diseases

Associated diseases	References
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)