Seroatlas · Human Serome Atlas

ESR1

Estrogen receptor

Also known as: ER-alpha, Era, ESR, ESR1_HUMAN, NR3A1

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

Protein identityUniProt · HPA

UniProt accession
P03372
Gene
ESR1
Ensembl
ENSG00000091831
Chromosome
6
Canonical length
595 aa
Protein class
Cancer-related genes, Disease related genes, FDA approved drug targets, Human disease related genes, Nuclear receptors, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Vesicles
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]

Canonical amino-acid sequenceUniProt

595 residues, UniProt reviewed canonical sequence.

>P03372|ESR1
     1  MTMTLHTKAS GMALLHQIQG NELEPLNRPQ LKIPLERPLG EVYLDSSKPA VYNYPEGAAY
    61  EFNAAAAANA QVYGQTGLPY GPGSEAAAFG SNGLGGFPPL NSVSPSPLML LHPPPQLSPF
   121  LQPHGQQVPY YLENEPSGYT VREAGPPAFY RPNSDNRRQG GRERLASTND KGSMAMESAK
   181  ETRYCAVCND YASGYHYGVW SCEGCKAFFK RSIQGHNDYM CPATNQCTID KNRRKSCQAC
   241  RLRKCYEVGM MKGGIRKDRR GGRMLKHKRQ RDDGEGRGEV GSAGDMRAAN LWPSPLMIKR
   301  SKKNSLALSL TADQMVSALL DAEPPILYSE YDPTRPFSEA SMMGLLTNLA DRELVHMINW
   361  AKRVPGFVDL TLHDQVHLLE CAWLEILMIG LVWRSMEHPG KLLFAPNLLL DRNQGKCVEG
   421  MVEIFDMLLA TSSRFRMMNL QGEEFVCLKS IILLNSGVYT FLSSTLKSLE EKDHIHRVLD
   481  KITDTLIHLM AKAGLTLQQQ HQRLAQLLLI LSHIRHMSNK GMEHLYSMKC KNVVPLYDLL
   541  LEMLDAHRLH APTSRGGASV EETDQSHLAT AGSTSSHSLQ KYYITGEAEG FPATV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ESR1 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.49
Highest tissue expression
104 nTPM

Expression across tissuesHPA

Tissue

  • endometrium: 104 nTPM
  • cervix: 81 nTPM
  • fallopian tube: 61 nTPM
  • smooth muscle: 47 nTPM
  • vagina: 46 nTPM
  • breast: 27 nTPM

Single-cell type

  • gonadotrophs: 1,651 nCPM
  • epididymal efferent duct absorptive cells: 947 nCPM
  • retinal horizontal cells: 803 nCPM
  • endometrial stromal cells: 737 nCPM
  • endometrial ciliated cells: 572 nCPM
  • breast hormone-responsive cells: 507 nCPM

Immune cell

  • naive CD4 T-cell: 0.4 nTPM
  • MAIT T-cell: 0.2 nTPM
  • memory CD4 T-cell: 0.2 nTPM
  • classical monocyte: 0.1 nTPM
  • memory B-cell: 0.1 nTPM
  • myeloid DC: 0.1 nTPM

Brain region

  • hypothalamus: 18 nTPM
  • choroid plexus: 9.7 nTPM
  • amygdala: 9.2 nTPM
  • cerebellum: 8.9 nTPM
  • basal ganglia: 6.8 nTPM
  • cerebral cortex: 4.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ESR1.

Disease | AllUniProt

Conditions ESR1 is implicated in, by any mechanism.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 149 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Estrogen resistance syndrome
  • Estrogen receptor mutant, temperature-sensitive

Disease | ImmuneIEDB

Conditions an epitope on ESR1 was assayed in.

ReferencesPubMed · IEDB

Publications for ESR1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

11 publications

Show 6 more

Reference: B cellIEDB

1 publication

Reference: T cellIEDB

2 publications

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)
0.19
gnomAD pLI
1
gnomAD missense Z
1.61
DepMap mean gene effect
0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

InteractionsUniProt · HPA

Protein binding partners of ESR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ESR1 as an antibody target. Whether an autoantibody or antibody against ESR1 could matter depends on whether native ESR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ESR1 is annotated at the cell surface, where native ESR1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ESR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ESR1. 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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