Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2101
Gene name Gene Name - the full gene name approved by the HGNC.
Estrogen related receptor alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ESRRA
Synonyms (NCBI Gene) Gene synonyms aliases
ERR1, ERRa, ERRalpha, ESRL1, NR3B1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of the PGC-1 family of transcription cofactors to regulate t
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006957 hsa-miR-137 Luciferase reporter assay 22723937
MIRT006957 hsa-miR-137 Luciferase reporter assay 22723937
MIRT016687 hsa-miR-423-3p Sequencing 20371350
MIRT020579 hsa-miR-155-5p Proteomics 18668040
MIRT028410 hsa-miR-30a-5p Proteomics 18668040
Transcription factors
Transcription factor Regulation Reference
ESR1 Unknown 12960079
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001650 Component Fibrillar center IDA
GO:0003700 Function DNA-binding transcription factor activity IDA 21190936
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601998 3471 ENSG00000173153
Protein
UniProt ID P11474
Protein name Steroid hormone receptor ERR1 (Estrogen receptor-like 1) (Estrogen-related receptor alpha) (ERR-alpha) (Nuclear receptor subfamily 3 group B member 1)
Protein function Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5'-TNAAGGTCA-3'. Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promo
PDB 1XB7 , 2PJL , 3D24 , 3K6P , 7E2E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00105 zf-C4 77 146 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 224 404 Ligand-binding domain of nuclear hormone receptor Domain
Sequence
MSSQVVGIEPLYIKAEPASPDSPKGSSETETEPPVALAPGPAPTRCLPGHKEEEDGEGAG
PGEQGGGKLVLSSLPKRLCLVCGDVASGYHYGVASCEACKAFFKRTIQGSIEYSCPASNE
CEITKRRRKACQACRFTKCLRVGMLK
EGVRLDRVRGGRQKYKRRPEVDPLPFPGPFPAGP
LAVAGGPRKTAAPVNALVSHLLVVEPEKLYAMPDPAGPDGHLPAVATLCDLFDREIVVTI
SWAKSIPGFSSLSLSDQMSVLQSVWMEVLVLGVAQRSLPLQDELAFAEDLVLDEEGARAA
GLGELGAALLQLVRRLQALRLEREEYVLLKALALANSDSVHIEDAEAVEQLREALHEALL
EYEAGRAGPGGGAERRRAGRLLLTLPLLRQTAGKVLAHFYGVKL
EGKVPMHKLFLEMLEA
MMD
Sequence length 423
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    PPARA activates gene expression
Transcriptional activation of mitochondrial biogenesis
Nuclear Receptor transcription pathway
Regulation of RUNX2 expression and activity
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
20961995
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
20961995
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
20961995
Unknown
Disease term Disease name Evidence References Source
Metabolic diseases Metabolic Diseases 16515477 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 36430689
Adrenal Cortex Diseases Associate 23123734
Adrenal Gland Neoplasms Associate 23123734
Adrenocortical Carcinoma Stimulate 23123734
Androgen Insensitivity Syndrome Associate 33753865
Arthritis Associate 21506092
Arthritis Rheumatoid Associate 29848990
Bantu siderosis Associate 30920960
Breast Neoplasms Associate 17259347, 17556356, 17631492, 18174157, 18974123, 19462000, 20211987, 20870744, 21546870, 22014575, 22723937, 23725143, 26542058, 27227989, 27456360
View all (9 more)
Carcinogenesis Associate 16681769, 26639757, 33197888