Gene

esr1

ID
ZDB-GENE-020806-5
Name
estrogen receptor 1
Symbol
esr1 Nomenclature History
Previous Names
  • ER[a] (1)
  • ERalpha (1)
  • NR3A1 (1)
  • zfER[a] (1)
Type
protein_coding_gene
Location
Chr: 20 Mapping Details/Browsers
Description
Enables nuclear estrogen receptor activity; nuclear receptor activity; and steroid binding activity. Acts upstream of or within several processes, including cellular response to estrogen stimulus; posterior lateral line neuromast primordium migration; and response to estradiol. Predicted to be located in cytoplasm and nucleus. Is expressed in several structures, including diencephalon; head; liver; male organism; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); bone disease (multiple); breast cancer (multiple); type 2 diabetes mellitus; and vitiligo. Orthologous to human ESR1 (estrogen receptor 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
50 figures from 33 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
12 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
ihb248Allele with one delinsExon 4UnknownCRISPR
sa29373Allele with one point mutationUnknownPremature StopENU
uab118Allele with one deletionUnknownFrameshift, Premature StopCRISPR
uab119Allele with one deletionUnknownUnknownCRISPR
ulg078Allele with one deletionExon 2Frameshift, Premature StopCRISPR
umo10Allele with one deletionExon 2Premature StopCRISPR
zf2164Allele with one deletionExon 3Frameshift, Premature StopTALEN
1 - 7 of 7
Show
Sequence Targeting Reagents
Human Disease
Associated With esr1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
breast cancer Alliance Breast cancer, somatic 114480
migraine Alliance {Migraine, susceptibility to} 157300
Estrogen resistance 615363
{Myocardial infarction, susceptibility to} 608446
1 - 4 of 4
Associated With esr1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000536 Nuclear hormone receptor, ligand-binding domain
Domain IPR001628 Zinc finger, nuclear hormone receptor-type
Domain IPR046944 Estrogen receptor, N-terminal
Family IPR001292 Estrogen receptor
Family IPR001723 Nuclear hormone receptor
1 - 5 of 9 Show all
Domain Details Per Protein
Protein Length Estrogen receptor Estrogen receptor, N-terminal Estrogen receptor/oestrogen-related receptor Nuclear hormone receptor Nuclear hormone receptor family NR3 subfamily Nuclear hormone receptor, ligand-binding domain Nuclear hormone receptor-like domain superfamily Zinc finger, NHR/GATA-type Zinc finger, nuclear hormone receptor-type
UniProtKB:P57717 569
UniProtKB:A0A8M3B0Y2 613
1 - 2 of 2
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 20
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA esr1-201 (1) Ensembl 1,728 nt
mRNA esr1-202 (1) Ensembl 3,449 nt
mRNA esr1-203 (1) Ensembl 212 nt
mRNA esr1-204 (1) Ensembl 1,996 nt
1 - 4 of 4
Interactions and Pathways
Antibodies
No data available
Plasmids
Constructs
No data available
Marker Relationships
1 - 7 of 7
Show
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanESR16
Conserved genome location (synteny) (1)
Phylogenetic tree (1)
Amino acid sequence comparison (8)
Nucleotide sequence comparison (2)
MouseEsr110
Amino acid sequence comparison (4)
Phylogenetic tree (1)
Conserved genome location (synteny) (1)
Nucleotide sequence comparison (1)
Citations
1 - 10 of 348
Show