• Gene id: 2101

Gene Summary

• Gene Symbol: ESRRA   Gene   UCSC   Ensembl
• Aliases: ERR1, ERRa, ERRalpha, ESRL1, NR3B1
• Gene name: estrogen related receptor alpha
• Alternate names: steroid hormone receptor ERR1, ERR-alpha, estrogen receptor-like 1, estrogen-related nuclear receptor alpha, nuclear receptor subfamily 3 group B member 1,
• Gene location: 11q13.1 (64305523: 64316742)     Exons: 8     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 604865

Protein Summary

• Protein general information: P11474  
  • Name: Steroid hormone receptor ERR1 (Estrogen receptor like 1) (Estrogen related receptor alpha) (ERR alpha) (Nuclear receptor subfamily 3 group B member 1)
  • Length: 423  
  • Mass: 45510
• Sequence:

  MSSQVVGIEPLYIKAEPASPDSPKGSSETETEPPVALAPGPAPTRCLPGHKEEEDGEGAGPGEQGGGKLVLSSLP
  KRLCLVCGDVASGYHYGVASCEACKAFFKRTIQGSIEYSCPASNECEITKRRRKACQACRFTKCLRVGMLKEGVR
  LDRVRGGRQKYKRRPEVDPLPFPGPFPAGPLAVAGGPRKTAAPVNALVSHLLVVEPEKLYAMPDPAGPDGHLPAV
  ATLCDLFDREIVVTISWAKSIPGFSSLSLSDQMSVLQSVWMEVLVLGVAQRSLPLQDELAFAEDLVLDEEGARAA
  GLGELGAALLQLVRRLQALRLEREEYVLLKALALANSDSVHIEDAEAVEQLREALHEALLEYEAGRAGPGGGAER
  RRAGRLLLTLPLLRQTAGKVLAHFYGVKLEGKVPMHKLFLEMLEAMMD

• Structural information:
  • Protein Domains: (193..42-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR027289  IPR024178   IPR001628  IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1XB7 2PJL 3D24 3K6P
  • PDBsum: 1XB7 2PJL 3D24 3K6P
  • DIP: 35053
  • STRING: ENSP00000384851
• Other Databases: GeneCards:  ESRRA  Malacards:  ESRRA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005496	steroid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007005	mitochondrion organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:1900078	positive regulation of cellular response to insulin stimulus	IEA	biological process
GO:0045670	regulation of osteoclast differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0051216	cartilage development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045667	regulation of osteoblast differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0030278	regulation of ossification	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005496	steroid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007005	mitochondrion organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:1900078	positive regulation of cellular response to insulin stimulus	IEA	biological process
GO:0045670	regulation of osteoclast differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0051216	cartilage development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045667	regulation of osteoblast differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0030278	regulation of ossification	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
congestive heart failure	PMID:21825219
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq