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Q64104

- NR2E1_MOUSE

UniProt

Q64104 - NR2E1_MOUSE

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
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    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. protein binding Source: MGI
    5. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: MGI
    6. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: MGI
    7. sequence-specific DNA binding Source: InterPro
    8. steroid hormone receptor activity Source: InterPro
    9. 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

    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

    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.
    GenevestigatoriQ64104.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi204227. 1 interaction.
    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

    MSKPAGSTSR ILDIPCKVCG DRSSGKHYGV YACDGCSGFF KRSIRRNRTY    50
    VCKSGNQGGC PVDKTHRNQC RACRLKKCLE VNMNKDAVQH ERGPRTSTIR 100
    KQVALYFRGH KEDNGAAAHF PSTALPAPAF FTAVTQLEPH GLELAAVSAT 150
    PERQTLVSLA QPTPKYPHEV NGTPMYLYEV ATESVCESAA RLLFMSIKWA 200
    KSVPAFSTLS LQDQLMLLED AWRELFVLGI AQWAIPVDAN TLLAVSGMNT 250
    DNTDSQKLNK IISEIQALQE VVARFRQLRL DATEFACLKC IVTFKAVPTH 300
    SGSELRSFRN AAAIAALQDE AQLTLNSYIH TRYPTQPCRF GKLLLLLPAL 350
    RSISPSTIEE VFFKKTIGNV PITRLLSDMY KSSDI 385
    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. 1 interaction.
    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.
    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

    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 1, 2014
    This is version 130 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