• Gene id: 4066

Gene Summary

• Gene Symbol: LYL1   Gene   UCSC   Ensembl
• Aliases: bHLHa18
• Gene name: LYL1 basic helix-loop-helix family member
• Alternate names: protein lyl-1, class A basic helix-loop-helix protein 18, lymphoblastic leukemia associated hematopoiesis regulator 1, lymphoblastic leukemia derived sequence 1,
• Gene location: 19p13.13 (70087476: 70089202)     Exons: 1     NC_000002.12
• Gene summary(Entrez): This gene represents a basic helix-loop-helix transcription factor. The encoded protein may play roles in blood vessel maturation and hematopoeisis. A translocation between this locus and the T cell receptor beta locus (GeneID 6957) on chromosome 7 has be
• OMIM: 151440

Protein Summary

• Protein general information: P12980  
  • Name: Protein lyl 1 (Class A basic helix loop helix protein 18) (bHLHa18) (Lymphoblastic leukemia derived sequence 1)
  • Length: 280  
  • Mass: 29938
• Sequence:

  MCPPQAQAEVGPTMTEKAEMVCAPSPAPAPPPKPASPGPPQVEEVGHRGGSSPPRLPPGVPVISLGHSRPPGVAM
  PTTELGTLRPPLLQLSTLGTAPPTLALHYHPHPFLNSVYIGPAGPFSIFPSSRLKRRPSHCELDLAEGHQPQKVA
  RRVFTNSRERWRQQNVNGAFAELRKLLPTHPPDRKLSKNEVLRLAMKYIGFLVRLLRDQAAALAAGPTPPGPRKR
  PVHRVPDDGARRGSGRRAEAAARSQPAPPADPDGSPGGAARPIKMEQTALSPEVR

• Structural information:
  • Protein Domains: (150..20-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR040238  
  • Prosite: PS50888
  • CDD: cd00083
  • DIP: 40885
  • STRING: ENSP00000264824
• Other Databases: GeneCards:  LYL1  Malacards:  LYL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
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:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0060216	definitive hemopoiesis	IEA	biological process
GO:0030183	B cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0030183	B cell differentiation	ISS	biological process
GO:0001955	blood vessel maturation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0060216	definitive hemopoiesis	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
T-cell acute lymphoblastic leukemia	KEGG:H00002
T-cell acute lymphoblastic leukemia	KEGG:H00002
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray