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Q64104

- NR2E1_MOUSE

UniProt

Q64104 - NR2E1_MOUSE

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Protein

Nuclear receptor subfamily 2 group E member 1

Gene

Nr2e1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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). Regulates cell cycle progression in neural stem cells of rhe developing brain. 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. May be involved in retinoic acid receptor (RAR) regulation in retinal cells.By similarity3 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi13 – 9078Nuclear receptorPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri16 – 3621NR C4-typePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri52 – 7827NR C4-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: MGI
  2. enzyme binding Source: BHF-UCL
  3. histone deacetylase binding Source: BHF-UCL
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: MGI
  5. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: MGI
  6. sequence-specific DNA binding Source: InterPro
  7. steroid hormone receptor activity Source: InterPro
  8. zinc ion binding Source: InterPro

GO - Biological processi

  1. aggressive behavior Source: MGI
  2. amygdala development Source: MGI
  3. anterior commissure morphogenesis Source: MGI
  4. behavioral fear response Source: MGI
  5. brain development Source: MGI
  6. camera-type eye development Source: MGI
  7. cell fate commitment Source: MGI
  8. cerebral cortex development Source: MGI
  9. cerebral cortex neuron differentiation Source: MGI
  10. dentate gyrus development Source: MGI
  11. extracellular matrix organization Source: MGI
  12. forebrain generation of neurons Source: MGI
  13. glial cell migration Source: MGI
  14. layer formation in cerebral cortex Source: MGI
  15. long-term synaptic potentiation Source: MGI
  16. negative regulation of apoptotic process Source: MGI
  17. negative regulation of astrocyte differentiation Source: MGI
  18. negative regulation of neural precursor cell proliferation Source: MGI
  19. negative regulation of neuron differentiation Source: MGI
  20. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  21. olfactory bulb development Source: MGI
  22. positive regulation of angiogenesis Source: MGI
  23. positive regulation of cell cycle Source: MGI
  24. positive regulation of cell proliferation Source: MGI
  25. positive regulation of neural precursor cell proliferation Source: BHF-UCL
  26. positive regulation of stem cell proliferation Source: BHF-UCL
  27. positive regulation of transcription from RNA polymerase II promoter Source: GOC
  28. regulation of cell migration involved in sprouting angiogenesis Source: MGI
  29. regulation of cellular component organization Source: MGI
  30. regulation of dendrite morphogenesis Source: MGI
  31. regulation of timing of neuron differentiation Source: MGI
  32. retina development in camera-type eye Source: MGI
  33. social behavior Source: MGI
  34. somatic stem cell maintenance Source: MGI
  35. visual perception Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein, Receptor, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear receptor subfamily 2 group E member 1
Alternative name(s):
Nuclear receptor TLX
Protein tailless homolog
Short name:
Tll
Short name:
mTll
Gene namesi
Name:Nr2e1
Synonyms:Tll, Tlx
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 10

Organism-specific databases

MGIiMGI:1100526. Nr2e1.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Disruption phenotypei

Mice show exhibit hyperaggressivity, decreased body fat and have ocular defects. Female mice lack maternal instincts. In developing brain, there are reduced areas of the ventricular zone and enlarged ventricles. Neuron progenitor cell divide more slowly. There is complete loss of visual acuity, with mice not being able to distinguish the cliff nor light and dark transition. There is a dramatic reduction in retina thickness and enhanced generation of S-cones with more differentiated neurons, fewer proliferation retinal progenitor cells (RPCs) and more cells undergoing apoptosis leading to progressive retinal dystrophy, optic nerve degradation and blindness.4 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 385385Nuclear receptor subfamily 2 group E member 1PRO_0000053593Add
BLAST

Proteomic databases

PRIDEiQ64104.

PTM databases

PhosphoSiteiQ64104.

Expressioni

Tissue specificityi

Expressed in embryonic developing forebrain and in dorsal midbrain. Outside the neural epithelium only found in the surface ectoderm at the site of nasal placode formation, where subsequently the nasal and olfactory epithelium is formed. Also expressed in adult brain.1 Publication

Developmental stagei

Expression is first detected on 8 dpc and increases until 13.5 dpc, then sharply decreases from day 13 dpc until 18 dpc. Expression is barely detected in newborn brains but increases again after birth. Highly expressed in the retinal neuroblastic layer during the early stages of retinogenesis. Down-regulated during neuronal development. At E14.5, expressed in the periventricular neural stem cells of the brain.2 Publications

Gene expression databases

BgeeiQ64104.
CleanExiMM_NR2E1.
ExpressionAtlasiQ64104. baseline and differential.
GenevestigatoriQ64104.

Interactioni

Subunit structurei

Monomer (By similarity). Interacts with ATN1; the interaction represses the transcription.By similarity1 Publication

Protein-protein interaction databases

BioGridi204227. 2 interactions.
DIPiDIP-46432N.
STRINGi10090.ENSMUSP00000019938.

Structurei

3D structure databases

ProteinModelPortaliQ64104.
SMRiQ64104. Positions 16-382.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni187 – 354168Ligand-bindingBy similarityAdd
BLAST
Regioni341 – 38545Required for transcriptional repressionAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi343 – 3475Poly-Leu

Sequence similaritiesi

Contains 1 nuclear receptor DNA-binding domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri16 – 3621NR C4-typePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri52 – 7827NR C4-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG277339.
HOGENOMiHOG000260820.
HOVERGENiHBG005606.
InParanoidiQ64104.
KOiK08545.
OMAiILLEDAW.
OrthoDBiEOG7WT41C.
PhylomeDBiQ64104.
TreeFamiTF315716.

Family and domain databases

Gene3Di1.10.565.10. 2 hits.
3.30.50.10. 1 hit.
InterProiIPR008946. Nucl_hormone_rcpt_ligand-bd.
IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
IPR001723. Str_hrmn_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PfamiPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PRINTSiPR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTiSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMiSSF48508. SSF48508. 1 hit.
PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q64104-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSKPAGSTSR ILDIPCKVCG DRSSGKHYGV YACDGCSGFF KRSIRRNRTY
60 70 80 90 100
VCKSGNQGGC PVDKTHRNQC RACRLKKCLE VNMNKDAVQH ERGPRTSTIR
110 120 130 140 150
KQVALYFRGH KEDNGAAAHF PSTALPAPAF FTAVTQLEPH GLELAAVSAT
160 170 180 190 200
PERQTLVSLA QPTPKYPHEV NGTPMYLYEV ATESVCESAA RLLFMSIKWA
210 220 230 240 250
KSVPAFSTLS LQDQLMLLED AWRELFVLGI AQWAIPVDAN TLLAVSGMNT
260 270 280 290 300
DNTDSQKLNK IISEIQALQE VVARFRQLRL DATEFACLKC IVTFKAVPTH
310 320 330 340 350
SGSELRSFRN AAAIAALQDE AQLTLNSYIH TRYPTQPCRF GKLLLLLPAL
360 370 380
RSISPSTIEE VFFKKTIGNV PITRLLSDMY KSSDI
Length:385
Mass (Da):42,619
Last modified:November 1, 1996 - v1
Checksum:iBCEFE4F2163691AC
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S77482 mRNA. Translation: AAB34090.1.
BC057104 mRNA. Translation: AAH57104.1.
CCDSiCCDS23813.1.
RefSeqiNP_689415.1. NM_152229.2.
UniGeneiMm.287100.

Genome annotation databases

EnsembliENSMUST00000019938; ENSMUSP00000019938; ENSMUSG00000019803.
GeneIDi21907.
KEGGimmu:21907.
UCSCiuc007eyt.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S77482 mRNA. Translation: AAB34090.1 .
BC057104 mRNA. Translation: AAH57104.1 .
CCDSi CCDS23813.1.
RefSeqi NP_689415.1. NM_152229.2.
UniGenei Mm.287100.

3D structure databases

ProteinModelPortali Q64104.
SMRi Q64104. Positions 16-382.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 204227. 2 interactions.
DIPi DIP-46432N.
STRINGi 10090.ENSMUSP00000019938.

PTM databases

PhosphoSitei Q64104.

Proteomic databases

PRIDEi Q64104.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000019938 ; ENSMUSP00000019938 ; ENSMUSG00000019803 .
GeneIDi 21907.
KEGGi mmu:21907.
UCSCi uc007eyt.1. mouse.

Organism-specific databases

CTDi 7101.
MGIi MGI:1100526. Nr2e1.

Phylogenomic databases

eggNOGi NOG277339.
HOGENOMi HOG000260820.
HOVERGENi HBG005606.
InParanoidi Q64104.
KOi K08545.
OMAi ILLEDAW.
OrthoDBi EOG7WT41C.
PhylomeDBi Q64104.
TreeFami TF315716.

Miscellaneous databases

NextBioi 301450.
PROi Q64104.
SOURCEi Search...

Gene expression databases

Bgeei Q64104.
CleanExi MM_NR2E1.
ExpressionAtlasi Q64104. baseline and differential.
Genevestigatori Q64104.

Family and domain databases

Gene3Di 1.10.565.10. 2 hits.
3.30.50.10. 1 hit.
InterProi IPR008946. Nucl_hormone_rcpt_ligand-bd.
IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
IPR001723. Str_hrmn_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view ]
Pfami PF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view ]
PRINTSi PR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTi SM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view ]
SUPFAMi SSF48508. SSF48508. 1 hit.
PROSITEi PS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The mouse homolog of the orphan nuclear receptor tailless is expressed in the developing forebrain."
    Monaghan A.P., Grau E., Bock D., Schuetz G.
    Development 121:839-853(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    Tissue: Embryo.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: C57BL/6.
    Tissue: Brain.
  3. "The orphan nuclear receptor Tlx regulates Pax2 and is essential for vision."
    Yu R.T., Chiang M.-Y., Tanabe T., Kobayashi M., Yasuda K., Evans R.M., Umesono K.
    Proc. Natl. Acad. Sci. U.S.A. 97:2621-2625(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, DISRUPTION PHENOTYPE.
  4. "Fierce: a new mouse deletion of Nr2e1; violent behaviour and ocular abnormalities are background-dependent."
    Young K.A., Berry M.L., Mahaffey C.L., Saionz J.R., Hawes N.L., Chang B., Zheng Q.Y., Smith R.S., Bronson R.T., Nelson R.J., Simpson E.M.
    Behav. Brain Res. 132:145-158(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISRUPTION PHENOTYPE.
  5. "Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1."
    Zhang C.L., Zou Y., Yu R.T., Gage F.H., Evans R.M.
    Genes Dev. 20:1308-1320(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH ATN1, DISRUPTION PHENOTYPE.
  6. "Nuclear receptor TLX regulates cell cycle progression in neural stem cells of the developing brain."
    Li W., Sun G., Yang S., Qu Q., Nakashima K., Shi Y.
    Mol. Endocrinol. 22:56-64(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISRUPTION PHENOTYPE, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, FUNCTION.

Entry informationi

Entry nameiNR2E1_MOUSE
AccessioniPrimary (citable) accession number: Q64104
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1996
Last modified: October 29, 2014
This is version 131 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3