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EN1 engrailed homeobox 1 [ Homo sapiens (human) ]

Gene ID: 2019, updated on 12-Jun-2021

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
Also known as
ENDOVESLB
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
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Genomic context

See EN1 in Genome Data Viewer
Location:
2q14.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (118842171..118847648, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (119599747..119605224, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6388 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

Associated conditions

Description Tests
Endove syndrome, limb-brain type
MedGen: CN295792 OMIM: 619218 GeneReviews: Not available
not available
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
GeneReviews: Not available

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

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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 109.20210514

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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