Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
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

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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

Show/Hide all (43)

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

MIM	HGNC	e!Ensembl
131290	3342	ENSG00000163064

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

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
EN1 syndrome	Pathogenic	rs1678284190	RCV001270919
ENDOVE syndrome, limb-brain type	Pathogenic	rs1678284190	RCV001303207

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EN1-related disorder	Likely benign	rs544035952, rs758084818	RCV003911464 RCV003954686

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	19384295
Brain Neoplasms	Stimulate	31239270
Breast Neoplasms	Associate	24141779, 29333926, 34287743
Carcinoma Adenoid Cystic	Associate	21692051, 21800291, 26953815
Colorectal Neoplasms	Associate	18403637, 19384295
Death	Inhibit	24141779
Disease	Associate	19384295
Inflammation	Associate	24141779
Lesch Nyhan Syndrome	Associate	40710358
Neoplasm Metastasis	Associate	31239270
Neoplasms	Associate	19384295, 20233874, 21625944, 24141779, 26510686, 37914932
Nervous System Diseases	Associate	24141779
Osteoarthritis	Associate	28430581
Osteoarthritis Knee	Associate	28430581
Osteoporosis	Associate	29145611, 33135722
Osteosarcoma	Associate	36618348
Parkinson Disease	Associate	36825022
Rhabdomyosarcoma	Associate	21672318
Salivary Gland Diseases	Associate	21692051
Stomach Neoplasms	Associate	24128875
Triple Negative Breast Neoplasms	Stimulate	29333926
Triple Negative Breast Neoplasms	Associate	31239270

EN1 (engrailed homeobox 1)