ESRRA - estrogen related receptor alpha Gene

Homo sapiens

Also known as ERR1; ERRa; ESRL1; NR3B1; ERRalpha

Gene ID: 2101 | Gene type: protein coding

About ESRRA

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,305,524-64,316,743 (from NCBI)

This gene has 8 transcripts (splice variants), 168 orthologues and 8 paralogues. Ubiquitous expression in duodenum (RPKM 26.2), kidney (RPKM 21.8) and 24 other tissues.

Summary

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 the expression of most genes involved in cellular energy production as well as in the process of mitochondrial biogenesis. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq, Jun 2019]

ESRRA Products(6)

mRNA	Protein	Name
NM_004451.5	NP_004442.3	steroid hormone receptor ERR1 isoform 1
NM_001282450.2	NP_001269379.1	steroid hormone receptor ERR1 isoform 1
NM_001282451.2	NP_001269380.1	steroid hormone receptor ERR1 isoform 2
XM_047426523.1	XP_047282479.1	steroid hormone receptor ERR1 isoform X2
XM_047426524.1	XP_047282480.1	steroid hormone receptor ERR1 isoform X3
XM_017017313.2	XP_016872802.1	steroid hormone receptor ERR1 isoform X1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	21190936	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12522104	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	11984006	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	23836911	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	23836911	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	21190936	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21190936	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ESRRA Protein Structure

zf-C4

Hormone_recep

0
100
200
300
400
423 a.a.

Protein Preferred Names

Protein Names

steroid hormone receptor ERR1

ERR-alpha	estrogen receptor-like 1
estrogen-related nuclear receptor alpha	nuclear receptor subfamily 3 group B member 1

Related Diseases

Diseases

Alias

Amelogenesis Imperfecta, Type Ig

Enamel-Renal Syndrome	Ers
Amelogenesis Imperfecta Type 1g	AI1G
Enamel-Renal-Gingival Syndrome	Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome
Aigfs	Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis
Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis	Amelogenesis Imperfecta Type Ig
Amelogenesis Imperfecta-Nephrocalcinosis Syndrome	Amelogenesis Imperfecta 1g
Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis	Amelogenesis Imperfecta Nephrocalcinosis

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
BMIQ11	Obesity Bmiq11
Obesity, Early-Onset	Obesity , Susceptibility To
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Breast Cancer

Breast Carcinoma	Breast Cancer, Familial
Malignant Neoplasm Of Breast	Male Breast Cancer
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Teeth Hard Tissue Disease

Endometrial Cancer

Endometrial Carcinoma	Endometrial Neoplasm
Malignant Neoplasm Of Endometrium	Endometrioid Carcinoma
Endometrial Neoplasms	Carcinoma, Endometrioid
Endometrial Cancer, Familial	Endometrial Carcinoma, Somatic
Endometrial Cancer, Susceptibility To	Endometrial Ca
Malignant Endometrial Neoplasm	Neoplasm Of Endometrium
Primary Malignant Neoplasm Of Endometrium	Tumor Of Endometrium
Carcinoma Of The Endometrium	Endometrioid Carcinoma Of Female Reproductive System
ENDMC	Carcinoma Endometrioid
Endometrial Cancers	Cancer, Endometrial
Uterine Corpus Cancer

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Type 2 Diabetes Mellitus

Insulin Resistance	NIDDM
Diabetes Mellitus, Non-Insulin-Dependent	Type 2 Diabetes
T2D	Noninsulin-Dependent Diabetes Mellitus
Diabetes Mellitus, Type Ii	Maturity-Onset Diabetes
Insulin Resistance, Severe, Digenic	Diabetes Mellitus, Type 2
Diabetes Mellitus, Noninsulin-Dependent	Diabetes Mellitus, Noninsulin-Dependent, Association With
Diabetes Mellitus, Noninsulin-Dependent, Late Onset	Hypertension, Insulin Resistance-Related, Susceptibility To
Insulin Resistance, Susceptibility To	Non-Insulin-Dependent Diabetes Mellitus
Type Ii Diabetes Mellitus	Adult-Onset Diabetes Mellitus
Maturity-Onset Diabetes Mellitus	Diabetes Mellitus Type 2
Type Ii Diabetes	Type 2 Diabetes Mellitus, Susceptibility To
Diabetes, Type 2	Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 2, Susceptibility To
Diabetes Mellitus, Noninsulin-Dependent, 2	Diabetes Mellitus, Type Ii, Susceptibility To
Hypertension, Insulin Resistance-Related	Adult-Onset Diabetes
Aodm	Diabetes Mellitus, Adult-Onset
Diabetes Mellitus Type Ii	Diabetes Mellitus Type 2, Susceptibility To
Diabetes, Type Ii, Susceptibility To	Diabetes Type 2
Diabetes Mellitus	Adult Onset Diabetes
Maturity Onset Diabetes	Nonketotic Diabetes
Non-Insulin Dependent Diabetes Mellitus	T2dm - [Type 2 Diabetes Mellitus]
Niddm - [Non Insulin Dependent Diabetes Mellitus]	Dm2
Dm Type Ii	Diabetic Type 2
Insulin Requiring Type 2 Diabetes	Noninsulin Dependent Diabetes
Non-Insulin-Dependent Diabetes Mellitus Without Complications	Diabetes Due To Insulin Secretory Defect
Diabetes Mellitus Due To Insulin Secretory Defect	Non-Insulin-Dependent Diabetes Of The Young
Senile Diabetes	Nonketotic Hyperglycaemia
Stable Diabetes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04537	ESRRA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04538	Esrra Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04539	Esrra Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ESRRA	VGNC	VGNC:61967
Mus musculus	ESRRA	MGD	MGI:1346831
Macaca mulatta	ESRRA	VGNC	VGNC:100926
Rattus norvegicus	ESRRA	RGD	RGD:1583866
Bos taurus	ESRRA	VGNC	VGNC:28608
Canis familiaris	ESRRA	VGNC	VGNC:54270

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