EN1 engrailed homeobox 1 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:3342
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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 2q14.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (118842171..118847648, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (119275530..119281008, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (119599747..119605224, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Engrailed-1 Promotes Pancreatic Cancer Metastasis.
Title: Engrailed-1 Promotes Pancreatic Cancer Metastasis.
TGFbeta-induced EN1 promotes tumor budding of adenoid cystic carcinoma in patient-derived organoid model.
Title: TGFβ-induced EN1 promotes tumor budding of adenoid cystic carcinoma in patient-derived organoid model.
[En1 promotes cell proliferation and migration via Hedgehog signaling pathway in esophageal squamous cell carcinoma].
Title: [En1 promotes cell proliferation and migration via Hedgehog signaling pathway in esophageal squamous cell carcinoma].
The osteoporosis susceptibility SNP rs188303909 at 2q14.2 regulates EN1 expression by modulating DNA methylation and E2F6 binding.
Title: The osteoporosis susceptibility SNP rs188303909 at 2q14.2 regulates EN1 expression by modulating DNA methylation and E2F6 binding.
EN1 Regulates Cell Growth and Proliferation in Human Glioma Cells via Hedgehog Signaling.
Title: EN1 Regulates Cell Growth and Proliferation in Human Glioma Cells via Hedgehog Signaling.
Converting fibroblastic fates leads to wound healing without scar.
Title: Converting fibroblastic fates leads to wound healing without scar.
Repeated mutation of a developmental enhancer contributed to human thermoregulatory evolution.
Title: Repeated mutation of a developmental enhancer contributed to human thermoregulatory evolution.
Engrailed 1 coordinates cytoskeletal reorganization to induce myofibroblast differentiation.
Title: Engrailed 1 coordinates cytoskeletal reorganization to induce myofibroblast differentiation.
Homeobox transcription factor engrailed homeobox 1 is a possible diagnostic marker for adenoid cystic carcinoma and polymorphous adenocarcinoma.
Title: Homeobox transcription factor engrailed homeobox 1 is a possible diagnostic marker for adenoid cystic carcinoma and polymorphous adenocarcinoma.
Engrailed Homeobox 1 and Cytokeratin 19 Are Independent Diagnostic Markers of Eccrine Porocarcinoma and Distinguish It From Squamous Cell Carcinoma.
Title: Engrailed Homeobox 1 and Cytokeratin 19 Are Independent Diagnostic Markers of Eccrine Porocarcinoma and Distinguish It From Squamous Cell Carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Endove syndrome, limb-brain type MedGen: C5543142 OMIM: 619218 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH104030 (e-PCR)
- UniSTS:98355

NoName (e-PCR)
- UniSTS:483132

NoName (e-PCR)
- UniSTS:480875

D9S2047 (e-PCR)
- UniSTS:49321

EN1_604 (e-PCR)
- UniSTS:277204

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

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
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
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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: homeobox protein engrailed-1

Names: engrailed homolog 1; homeobox protein en-1; hu-En-1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

NG_007123.1 RefSeqGene

Range

5536..11013

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001426.4 → NP_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, Q4ZG44

Related

ENSP00000295206.5, ENST00000295206.7

Conserved Domains (2) summary

pfam00046
Location:306 → 359

Homeobox; Homeobox domain

pfam10525
Location:361 → 390

Engrail_1_C_sig; Engrailed homeobox C-terminal signature domain