• Gene id: 2019

Gene Summary

• Gene Symbol: EN1   Gene   UCSC   Ensembl
• Gene name: engrailed homeobox 1
• Alternate names: homeobox protein engrailed-1, engrailed homolog 1, homeobox protein en-1, hu-En-1,
• Gene location: 2q14.2 (118847647: 118842170)     Exons: 2     NC_000002.12
• Gene summary(Entrez): Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Differe

Protein Summary

• Protein general information: Q05925  
  • Name: Homeobox protein engrailed 1 (Homeobox protein en 1) (Hu En 1)
  • Length: 392  
  • Mass: 40115
• Sequence:

  MEEQQPEPKSQRDSALGAAAAATPGGLSLSLSPGASGSSGSGSDGDSVPVSPQPAPPSPPAAPCLPPLAHHPHLP
  PHPPPPPPQHLAAPAHQPQPAAQLHRTTNFFIDNILRPDFGCKKEQPPPQLLVAAAARGGAGGGGRVERDRGQTA
  AGRDPVHPLGTRAPGAASLLCAPDANCGPPDGSQPAAAGAGASKAGNPAAAAAAAAAAVAAAAAAAAAKPSDTGG
  GGSGGGAGSPGAQGTKYPEHGNPAILLMGSANGGPVVKTDSQQPLVWPAWVYCTRYSDRPSSGPRTRKLKKKKNE
  KEDKRPRTAFTAEQLQRLKAEFQANRYITEQRRQTLAQELSLNESQIKIWFQNKRAKIKKATGIKNGLALHLMAQ
  GLYNHSTTTVQDKDESE

• Structural information:
  • Interpro: IPR019549  IPR009057  IPR017970  IPR001356  IPR000747   IPR020479  IPR019737  
  • Prosite: PS00033 PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000295206
• Other Databases: GeneCards:  EN1  Malacards:  EN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0071542	dopaminergic neuron differentiation	TAS	biological process
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: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:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030182	neuron differentiation	IBA	biological process
GO:0016586	RSC-type complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030917	midbrain-hindbrain boundary development	IEA	biological process
GO:0035176	social behavior	IEA	biological process
GO:0042756	drinking behavior	IEA	biological process
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:1990403	embryonic brain development	IEA	biological process
GO:0009954	proximal/distal pattern formation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0030902	hindbrain development	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0061743	motor learning	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Parkinson's disease	PMID:19345444
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881