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EN1 engrailed homeobox 1 [ Homo sapiens (human) ]

Gene ID: 2019, updated on 13-Mar-2020

Summary

Official Symbol
EN1provided by HGNC
Official Full Name
engrailed homeobox 1provided by HGNC
Primary source
HGNC:HGNC:3342
See related
Ensembl:ENSG00000163064 MIM:131290
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See EN1 in Genome Data Viewer
Location:
2q14.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (118842171..118847648, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (119599747..119605759, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927709 Neighboring gene CRISPRi-validated cis-regulatory element chr2.4272 Neighboring gene macrophage receptor with collagenous structure Neighboring gene complement C1q like 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cerebellum development IEA
Inferred from Electronic Annotation
more info
 
dopaminergic neuron differentiation TAS
Traceable Author Statement
more info
PubMed 
dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
drinking behavior IEA
Inferred from Electronic Annotation
more info
 
embryonic brain development IEA
Inferred from Electronic Annotation
more info
 
embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
midbrain development IEA
Inferred from Electronic Annotation
more info
 
midbrain-hindbrain boundary development IEA
Inferred from Electronic Annotation
more info
 
motor learning IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
neuron development IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pigmentation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
social behavior IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
RSC-type complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
homeobox protein engrailed-1
Names
engrailed homolog 1
homeobox protein en-1
hu-En-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007123.1 RefSeqGene

    Range
    5536..11013
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001426.4NP_001417.3  homeobox protein engrailed-1

    See identical proteins and their annotated locations for NP_001417.3

    Status: REVIEWED

    Source sequence(s)
    AC012665
    Consensus CDS
    CCDS2123.1
    UniProtKB/Swiss-Prot
    Q05925
    Related
    ENSP00000295206.5, ENST00000295206.7
    Conserved Domains (2) summary
    pfam00046
    Location:306359
    Homeobox; Homeobox domain
    pfam10525
    Location:361390
    Engrail_1_C_sig; Engrailed homeobox C-terminal signature domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    118842171..118847648 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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