EN1 (engrailed homeobox 1)

Gene

• Entrez ID: 2019
• Gene name: Engrailed homeobox 1
• Gene symbol: EN1
• Synonyms (NCBI Gene): ENDOVESLB
• Chromosome: 2
• Chromosome location: 2q14.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT493975	hsa-miR-6746-5p	PAR-CLIP	20371350
MIRT493974	hsa-miR-3960	PAR-CLIP	20371350
MIRT493973	hsa-miR-8072	PAR-CLIP	20371350
MIRT493972	hsa-miR-4746-3p	PAR-CLIP	20371350
MIRT493971	hsa-miR-139-3p	PAR-CLIP	20371350
MIRT493970	hsa-miR-4467	PAR-CLIP	20371350
MIRT493975	hsa-miR-6746-5p	PAR-CLIP	23592263
MIRT493974	hsa-miR-3960	PAR-CLIP	23592263
MIRT493973	hsa-miR-8072	PAR-CLIP	23592263
MIRT493972	hsa-miR-4746-3p	PAR-CLIP	23592263
MIRT493971	hsa-miR-139-3p	PAR-CLIP	23592263
MIRT493970	hsa-miR-4467	PAR-CLIP	23592263
MIRT493968	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT493969	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT493967	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT493969	hsa-miR-128-1-5p	PAR-CLIP	26701625
MIRT493969	hsa-miR-128-1-5p	PAR-CLIP	26701625
MIRT493969	hsa-miR-128-1-5p	PAR-CLIP	26701625
MIRT493969	hsa-miR-128-1-5p	PAR-CLIP	26701625
MIRT493969	hsa-miR-128-1-5p	PAR-CLIP	26701625
MIRT493969	hsa-miR-128-1-5p	PAR-CLIP	26701625
MIRT493967	hsa-miR-128-2-5p	PAR-CLIP	26701625
MIRT493967	hsa-miR-128-2-5p	PAR-CLIP	26701625
MIRT493967	hsa-miR-128-2-5p	PAR-CLIP	26701625
MIRT493967	hsa-miR-128-2-5p	PAR-CLIP	26701625
MIRT493967	hsa-miR-128-2-5p	PAR-CLIP	26701625
MIRT493967	hsa-miR-128-2-5p	PAR-CLIP	26701625
MIRT493971	hsa-miR-139-3p	PAR-CLIP	26701625
MIRT493971	hsa-miR-139-3p	PAR-CLIP	26701625
MIRT493971	hsa-miR-139-3p	PAR-CLIP	26701625
MIRT493971	hsa-miR-139-3p	PAR-CLIP	26701625
MIRT493971	hsa-miR-139-3p	PAR-CLIP	26701625
MIRT493971	hsa-miR-139-3p	PAR-CLIP	26701625
MIRT493974	hsa-miR-3960	PAR-CLIP	26701625
MIRT493974	hsa-miR-3960	PAR-CLIP	26701625
MIRT493974	hsa-miR-3960	PAR-CLIP	26701625
MIRT493974	hsa-miR-3960	PAR-CLIP	26701625
MIRT493974	hsa-miR-3960	PAR-CLIP	26701625
MIRT493974	hsa-miR-3960	PAR-CLIP	26701625
MIRT493970	hsa-miR-4467	PAR-CLIP	26701625
MIRT493970	hsa-miR-4467	PAR-CLIP	26701625
MIRT493970	hsa-miR-4467	PAR-CLIP	26701625
MIRT493970	hsa-miR-4467	PAR-CLIP	26701625
MIRT493970	hsa-miR-4467	PAR-CLIP	26701625
MIRT493970	hsa-miR-4467	PAR-CLIP	26701625
MIRT493972	hsa-miR-4746-3p	PAR-CLIP	26701625
MIRT493972	hsa-miR-4746-3p	PAR-CLIP	26701625
MIRT493972	hsa-miR-4746-3p	PAR-CLIP	26701625
MIRT493972	hsa-miR-4746-3p	PAR-CLIP	26701625
MIRT493972	hsa-miR-4746-3p	PAR-CLIP	26701625
MIRT493972	hsa-miR-4746-3p	PAR-CLIP	26701625
MIRT493975	hsa-miR-6746-5p	PAR-CLIP	26701625
MIRT493975	hsa-miR-6746-5p	PAR-CLIP	26701625
MIRT493975	hsa-miR-6746-5p	PAR-CLIP	26701625
MIRT493975	hsa-miR-6746-5p	PAR-CLIP	26701625
MIRT493975	hsa-miR-6746-5p	PAR-CLIP	26701625
MIRT493975	hsa-miR-6746-5p	PAR-CLIP	26701625
MIRT493968	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT493968	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT493968	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT493968	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT493968	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT493968	hsa-miR-6781-5p	PAR-CLIP	26701625
MIRT493973	hsa-miR-8072	PAR-CLIP	26701625
MIRT493973	hsa-miR-8072	PAR-CLIP	26701625
MIRT493973	hsa-miR-8072	PAR-CLIP	26701625
MIRT493973	hsa-miR-8072	PAR-CLIP	26701625
MIRT493973	hsa-miR-8072	PAR-CLIP	26701625
MIRT493973	hsa-miR-8072	PAR-CLIP	26701625
MIRT493975	hsa-miR-6746-5p	PAR-CLIP	20371350
MIRT493974	hsa-miR-3960	PAR-CLIP	20371350
MIRT493973	hsa-miR-8072	PAR-CLIP	20371350
MIRT493972	hsa-miR-4746-3p	PAR-CLIP	20371350
MIRT493971	hsa-miR-139-3p	PAR-CLIP	20371350
MIRT493970	hsa-miR-4467	PAR-CLIP	20371350
MIRT493975	hsa-miR-6746-5p	PAR-CLIP	23592263
MIRT493974	hsa-miR-3960	PAR-CLIP	23592263
MIRT493973	hsa-miR-8072	PAR-CLIP	23592263
MIRT493972	hsa-miR-4746-3p	PAR-CLIP	23592263
MIRT493971	hsa-miR-139-3p	PAR-CLIP	23592263
MIRT493970	hsa-miR-4467	PAR-CLIP	23592263
MIRT493968	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT493969	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT493967	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT962765	hsa-miR-1253	CLIP-seq
MIRT962766	hsa-miR-1275	CLIP-seq
MIRT738430	hsa-miR-1470	CLIP-seq
MIRT738432	hsa-miR-1539	CLIP-seq
MIRT962767	hsa-miR-198	CLIP-seq
MIRT962768	hsa-miR-3175	CLIP-seq
MIRT738428	hsa-miR-3189-3p	CLIP-seq
MIRT962769	hsa-miR-338-3p	CLIP-seq
MIRT962770	hsa-miR-3689d	CLIP-seq
MIRT962771	hsa-miR-4434	CLIP-seq
MIRT738435	hsa-miR-4446-5p	CLIP-seq
MIRT962772	hsa-miR-4447	CLIP-seq
MIRT738431	hsa-miR-4469	CLIP-seq
MIRT962773	hsa-miR-4472	CLIP-seq
MIRT962774	hsa-miR-4516	CLIP-seq
MIRT962775	hsa-miR-4525	CLIP-seq
MIRT962776	hsa-miR-4530	CLIP-seq
MIRT962777	hsa-miR-4665-5p	CLIP-seq
MIRT738429	hsa-miR-4667-3p	CLIP-seq
MIRT962778	hsa-miR-4723-5p	CLIP-seq
MIRT738434	hsa-miR-4755-5p	CLIP-seq
MIRT962779	hsa-miR-541	CLIP-seq
MIRT962780	hsa-miR-545	CLIP-seq
MIRT962781	hsa-miR-548c-3p	CLIP-seq
MIRT962782	hsa-miR-625	CLIP-seq
MIRT962783	hsa-miR-654-5p	CLIP-seq
MIRT738433	hsa-miR-670	CLIP-seq
MIRT1985374	hsa-miR-4261	CLIP-seq
MIRT1985375	hsa-miR-4639-3p	CLIP-seq
MIRT1985376	hsa-miR-603	CLIP-seq
MIRT1985377	hsa-miR-607	CLIP-seq
MIRT738431	hsa-miR-4469	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	21672318
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	21672318
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	21672318
GO:0001501	Process	Skeletal system development	TAS	8684466
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	24399192
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	8094370
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030901	Process	Midbrain development	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0030917	Process	Midbrain-hindbrain boundary development	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042756	Process	Drinking behavior	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048666	Process	Neuron development	IEA
GO:0060173	Process	Limb development	IEA
GO:0061743	Process	Motor learning	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	TAS	24431302
GO:1990403	Process	Embryonic brain development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 131290
• HGNC: 3342
• e!Ensembl: ENSG00000163064

Protein

• UniProt ID: Q05925
• Protein name: Homeobox protein engrailed-1 (Homeobox protein en-1) (Hu-En-1)
• Protein function: Required for proper formation of the apical ectodermal ridge and correct dorsal-ventral patterning in the limb.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	304 → 360	Homeodomain	Domain
  PF10525	Engrail_1_C_sig	361 → 391	Engrailed homeobox C-terminal signature domain	Domain

• Sequence:

  MEEQQPEPKSQRDSALGAAAAATPGGLSLSLSPGASGSSGSGSDGDSVPVSPQPAPPSPP
  AAPCLPPLAHHPHLPPHPPPPPPQHLAAPAHQPQPAAQLHRTTNFFIDNILRPDFGCKKE
  QPPPQLLVAAAARGGAGGGGRVERDRGQTAAGRDPVHPLGTRAPGAASLLCAPDANCGPP
  DGSQPAAAGAGASKAGNPAAAAAAAAAAVAAAAAAAAAKPSDTGGGGSGGGAGSPGAQGT
  KYPEHGNPAILLMGSANGGPVVKTDSQQPLVWPAWVYCTRYSDRPSSGPRTRKLKKKKNE
  KEDKRPRTAFTAEQLQRLKAEFQANRYITEQRRQTLAQELSLNESQIKIWFQNKRAKIKK
  ATGIKNGLALHLMAQGLYNHSTTTVQDKDESE

• Sequence length: 392

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
EN1 syndrome	Pathogenic	rs1678284190	RCV001270919	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ENDOVE syndrome, limb-brain type	Pathogenic	rs1678284190	RCV001303207	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EN1-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL INFECTIOUS DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	21800291		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	21800291		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	31239270	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24141779, 29333926, 34287743	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	21692051, 21800291, 26953815	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18403637, 19384295	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	29436004		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21800291		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	24141779	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	CTD_human_DG	21892157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	28430581	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	28430581	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29145611, 33135722	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36618348	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36825022	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	21672318	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	18698228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	18698228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18698228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	24128875	Associate	★☆☆☆☆ Found in Text Mining only
Sweat Gland Neoplasms	Sweat Gland Neoplasms	BEFREE	29436004		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29333926	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31239270	Associate	★☆☆☆☆ Found in Text Mining only