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EN1 (engrailed homeobox 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2019
Gene nameGene Name - the full gene name approved by the HGNC.
Engrailed homeobox 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EN1
SynonymsGene synonyms aliases
ENDOVESLB
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q14.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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 21873635
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 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 16762588
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 18698228
Unknown
Disease name Disease term dbSNP ID References
Nervous system disorder nervous system disorder 21892157
Salivary gland neoplasm Salivary Gland Neoplasms 16762588
Malignant neoplasm of salivary gland Malignant neoplasm of salivary gland 16762588

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