Homo sapiens Protein: NR2E1
Summary
InnateDB Protein IDBP-94993.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NR2E1
Protein Name nuclear receptor subfamily 2, group E, member 1
Synonyms TLL; TLX; XTLL;
Species Homo sapiens
Ensembl Protein ENSP00000357982
InnateDB Gene IDBG-94991 (NR2E1)
Protein Structure
UniProt Annotation
Function Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended core motif half- site sequence 5'-AAGGTCA-3' in which the 5' flanking nucleotides participate in determining receptor specificity (By similarity). May be required to pattern anterior brain differentiation. Involved in the regulation of retinal development and essential for vision. During retinogenesis, regulates PTEN-Cyclin D expression via binding to the promoter region of PTEN and suppressing its activity (By similarity). May be involved in retinoic acic receptor (RAR) regulation in retinal cells. {ECO:0000250}.
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00407}.
Disease Associations
Tissue Specificity Brain specific. Present in all brain sections tested, highest levels in the caudate nucleus and hippocampus, weakest levels in the thalamus. {ECO:0000269PubMed:9628820}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 18 [view]
Protein-Protein 18 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003707 steroid hormone receptor activity
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0007399 nervous system development
GO:0010467 gene expression
GO:0043401 steroid hormone mediated signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
Protein Structure and Domains
PDB ID
InterPro IPR000536 Nuclear hormone receptor, ligand-binding, core
IPR001628 Zinc finger, nuclear hormone receptor-type
IPR001723 Steroid hormone receptor
IPR008946 Nuclear hormone receptor, ligand-binding
PFAM PF00104
PF00105
PRINTS PR00047
PR00398
PIRSF
SMART SM00430
SM00399
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y466
PhosphoSite PhosphoSite-Q9Y466
TrEMBL B6ZGT9
UniProt Splice Variant
Entrez Gene 7101
UniGene Hs.157688
RefSeq NP_003260
HUGO HGNC:7973
OMIM 603849
CCDS CCDS5063
HPRD 07230
IMGT
EMBL AB307709 AF220532 AF411525 AK131541 AL078596 BC028031 CH471051 HQ692846 Y13276
GenPept AAG31945 AAH28031 AAL05871 ADZ17357 BAD18677 BAH02300 CAA73725 CAB75626 EAW48385 EAW48386