ESRRA - estrogen related receptor alpha Gene

中文名称：雌激素相关受体α

种属: Homo sapiens

同用名: ERR1; ERRa; ESRL1; NR3B1; ERRalpha

基因 ID: 2101 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种与雌激素受体关系最密切的核受体。这种蛋白质充当位点特异性转录因子，并与 PGC-1 转录辅助因子家族的成员相互作用，以调节参与细胞能量产生以及线粒体生物发生过程的大多数基因的表达。 ESRRA 的加工假基因位于染色体 13q12.1。[RefSeq 提供，2019 年 6 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA-binding transcription factor activity	IDA IDA: 通过直接分析推断	21190936	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12522104	GOA
enables protein domain specific binding	IPI IPI: 通过物理相互作用推断	11984006	GOA
enables sequence-specific DNA binding	IDA IDA: 通过直接分析推断	23836911	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in regulation of DNA-templated transcription	IMP IMP: 通过突变表型推断	23836911	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	21190936	GOA
located in nucleus	IDA IDA: 通过直接分析推断	21190936	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ESRRA 蛋白结构

zf-C4

Hormone_recep

0
100
200
300
400
423 a.a.

蛋白主名

其他名称

steroid hormone receptor ERR1

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

ESRRA 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	ESRRA	P11474	REL	Homo sapiens	Q04864-2	Validated Y2H	32296183
Intra	ESRRA	P11474	REL	Homo sapiens	Q04864-2	Y2H Array	32296183
Intra	ESRRA	P11474	REL	Homo sapiens	Q04864-2	Y2H Prey Pooling	32296183
Intra	ESRRA	P11474	ESRRG	Homo sapiens	P62508-3	Y2H Prey Pooling	32296183
Intra	ESRRA	P11474	ESRRG	Homo sapiens	P62508-3	Validated Y2H	32296183
Intra	ESRRA	P11474	ESRRG	Homo sapiens	P62508-3	Y2H Array	32296183
Intra	ESRRA	P11474	RNF4	Homo sapiens	P78317	Y2H Array	32296183
Intra	ESRRA	P11474	RNF4	Homo sapiens	P78317	Validated Y2H	32296183
Intra	ESRRA	P11474	RNF4	Homo sapiens	P78317	Y2H Prey Pooling	32296183
Intra	ESRRA	P11474	HIF1A	Homo sapiens	Q16665	Pull Down	18509053
Intra	ESRRA	P11474	HIF1A	Homo sapiens	Q16665	Anti Bait CoIP	18509053
Intra	ESRRA	P11474	PIAS4	Homo sapiens	Q8N2W9	Anti Tag CoIP	18063693
Intra	ESRRA	P11474	PPARGC1A	Homo sapiens	Q9UBK2	DSC	15337744
Intra	ESRRA	P11474	PPARGC1A	Homo sapiens	Q9UBK2	Y2H Prey Pooling	32296183
Intra	ESRRA	P11474	PPARGC1A	Homo sapiens	Q9UBK2	FPS	15337744
Intra	ESRRA	P11474	PPARGC1A	Homo sapiens	Q9UBK2	X-Ray Diffraction	18441008
Intra	ESRRA	P11474	PPARGC1A	Homo sapiens	Q9UBK2	Pull Down	18063693
Intra	ESRRA	P11474	PPARGC1A	Homo sapiens	Q9UBK2	X-Ray Diffraction	15337744
Intra	ESRRA	P11474	PPARGC1A	Homo sapiens	Q9UBK2	Gal4 VP16 Complement	18441008
Intra	ESRRA	P11474	PPARGC1A	Homo sapiens	Q9UBK2	Y2H	12522104
Intra	ESRRA	P11474	PPARGC1A	Homo sapiens	Q9UBK2	Validated Y2H	32296183
Intra	ESRRA	P11474	PPARGC1A	Homo sapiens	Q9UBK2	Y2H Array	32296183
Intra	ESRRA	P11474	TNNI2	Homo sapiens	P48788	Validated Y2H	32296183
Intra	ESRRA	P11474	TNNI2	Homo sapiens	P48788	Y2H Array	32296183
Intra	ESRRA	P11474	TNNI2	Homo sapiens	P48788	Y2H Prey Pooling	32296183
Intra	ESRRA	P11474	FAM9A	Homo sapiens	Q8IZU1	Validated Y2H	32296183
Intra	ESRRA	P11474	FAM9A	Homo sapiens	Q8IZU1	Y2H Prey Pooling	32296183
Intra	ESRRA	P11474	FAM9A	Homo sapiens	Q8IZU1	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04537	ESRRA Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS04538	Esrra Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS04539	Esrra Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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