Seroatlas · Human Serome Atlas

EN1

Homeobox protein engrailed-1

Also known as: HME1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q05925
Gene
EN1
Ensembl
ENSG00000163064
Chromosome
2
Canonical length
392 aa
Protein class
Disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Nucleoli rim

OverviewNCBI 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. 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]

Canonical amino-acid sequenceUniProt

392 residues, UniProt reviewed canonical sequence.

>Q05925|EN1
     1  MEEQQPEPKS QRDSALGAAA AATPGGLSLS LSPGASGSSG SGSDGDSVPV SPQPAPPSPP
    61  AAPCLPPLAH HPHLPPHPPP PPPQHLAAPA HQPQPAAQLH RTTNFFIDNI LRPDFGCKKE
   121  QPPPQLLVAA AARGGAGGGG RVERDRGQTA AGRDPVHPLG TRAPGAASLL CAPDANCGPP
   181  DGSQPAAAGA GASKAGNPAA AAAAAAAAVA AAAAAAAAKP SDTGGGGSGG GAGSPGAQGT
   241  KYPEHGNPAI LLMGSANGGP VVKTDSQQPL VWPAWVYCTR YSDRPSSGPR TRKLKKKKNE
   301  KEDKRPRTAF TAEQLQRLKA EFQANRYITE QRRQTLAQEL SLNESQIKIW FQNKRAKIKK
   361  ATGIKNGLAL HLMAQGLYNH STTTVQDKDE SE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.66
Highest tissue expression
13 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 13 nTPM
  • skin: 10 nTPM
  • midbrain: 8.5 nTPM
  • adipose tissue: 3.4 nTPM
  • lymph node: 1.7 nTPM
  • breast: 1.6 nTPM

Single-cell type

  • smooth muscle cells: 36 nCPM
  • breast secretory cells: 10 nCPM
  • myonuclei: 9.6 nCPM
  • myosatellite cells: 8.1 nCPM
  • epididymal clear cells: 6.1 nCPM
  • breast myoepithelial cells: 4.3 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • midbrain: 43 nTPM
  • pons: 6.8 nTPM
  • cerebellum: 3.2 nTPM
  • thalamus: 2.8 nTPM
  • medulla oblongata: 1.4 nTPM
  • hypothalamus: 1.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EN1.

Disease | AllUniProt

Conditions EN1 is implicated in, by any mechanism.

  • ENDOVE syndrome, limb-only type (ENDOVESL) MIM:619217
  • ENDOVE syndrome, limb-brain type (ENDOVESLB) MIM:619218

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 79 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • EN1 syndrome
  • ENDOVE syndrome, limb-brain type

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.35
gnomAD pLI
0.93
gnomAD missense Z
1.1
DepMap mean gene effect
-0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EN1 as an antibody target. Whether an autoantibody or antibody against EN1 could matter depends on whether native EN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EN1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EN1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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