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Q9Y466

- NR2E1_HUMAN

UniProt

Q9Y466 - NR2E1_HUMAN

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Protein

Nuclear receptor subfamily 2 group E member 1

Gene

NR2E1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript 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). 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.By similarity

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. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: Ensembl
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  3. sequence-specific DNA binding Source: InterPro
  4. steroid hormone receptor activity Source: ProtInc
  5. zinc ion binding Source: InterPro

GO - Biological processi

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

Keywords - Molecular functioni

Activator, Developmental protein, Receptor, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_15525. Nuclear Receptor transcription pathway.
SignaLinkiQ9Y466.

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:
hTll
Gene namesi
Name:NR2E1
Synonyms:TLX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:7973. NR2E1.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleoplasm Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31756.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 385385Nuclear receptor subfamily 2 group E member 1PRO_0000053592Add
BLAST

Proteomic databases

PaxDbiQ9Y466.
PRIDEiQ9Y466.

PTM databases

PhosphoSiteiQ9Y466.

Expressioni

Tissue specificityi

Brain specific. Present in all brain sections tested, highest levels in the caudate nucleus and hippocampus, weakest levels in the thalamus.1 Publication

Gene expression databases

BgeeiQ9Y466.
CleanExiHS_NR2E1.
ExpressionAtlasiQ9Y466. baseline and differential.
GenevestigatoriQ9Y466.

Organism-specific databases

HPAiHPA036954.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi112956. 31 interactions.
STRINGi9606.ENSP00000357982.

Structurei

3D structure databases

ProteinModelPortaliQ9Y466.
SMRiQ9Y466. Positions 16-382.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni187 – 354168Ligand-bindingBy similarityAdd
BLAST
Regioni341 – 38545Required for transcriptional repressionBy similarityAdd
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.
GeneTreeiENSGT00760000118948.
HOGENOMiHOG000260820.
HOVERGENiHBG005606.
InParanoidiQ9Y466.
KOiK08545.
OrthoDBiEOG7WT41C.
PhylomeDBiQ9Y466.
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]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y466-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« 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 KEENGAAAHF PSAALPAPAF FTAVTQLEPH GLELAAVSTT
160 170 180 190 200
PERQTLVSLA QPTPKYPHEV NGTPMYLYEV ATESVCESAA RLLFMSIKWA
210 220 230 240 250
KSVPAFSTLS LQDQLMLLED AWRELFVLGI AQWAIPVDAN TLLAVSGMNG
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):42,589
Last modified:November 1, 1999 - v1
Checksum:i39181A42A2FB79C2
GO
Isoform 2 (identifier: Q9Y466-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MSKPAGSTS → MFRAGAEGAEKEPSPRPECRADPGPGLGFPLGSGLPWPSLLESPGG

Note: No experimental confirmation available.

Show »
Length:422
Mass (Da):46,400
Checksum:iA79AF556F5FB0840
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 99MSKPAGSTS → MFRAGAEGAEKEPSPRPECR ADPGPGLGFPLGSGLPWPSL LESPGG in isoform 2. 1 PublicationVSP_054639

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y13276 mRNA. Translation: CAA73725.1.
AF220532 mRNA. Translation: AAG31945.1.
AF411525 mRNA. Translation: AAL05871.1.
AK131541 mRNA. Translation: BAD18677.1.
AL078596 Genomic DNA. Translation: CAB75626.1.
CH471051 Genomic DNA. Translation: EAW48386.1.
BC028031 mRNA. Translation: AAH28031.1.
CCDSiCCDS5063.1. [Q9Y466-1]
CCDS69165.1. [Q9Y466-2]
RefSeqiNP_001273031.1. NM_001286102.1. [Q9Y466-2]
NP_003260.1. NM_003269.4. [Q9Y466-1]
UniGeneiHs.157688.

Genome annotation databases

EnsembliENST00000368983; ENSP00000357979; ENSG00000112333. [Q9Y466-2]
ENST00000368986; ENSP00000357982; ENSG00000112333. [Q9Y466-1]
GeneIDi7101.
KEGGihsa:7101.
UCSCiuc003psg.3. human. [Q9Y466-1]

Polymorphism databases

DMDMi9910804.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y13276 mRNA. Translation: CAA73725.1 .
AF220532 mRNA. Translation: AAG31945.1 .
AF411525 mRNA. Translation: AAL05871.1 .
AK131541 mRNA. Translation: BAD18677.1 .
AL078596 Genomic DNA. Translation: CAB75626.1 .
CH471051 Genomic DNA. Translation: EAW48386.1 .
BC028031 mRNA. Translation: AAH28031.1 .
CCDSi CCDS5063.1. [Q9Y466-1 ]
CCDS69165.1. [Q9Y466-2 ]
RefSeqi NP_001273031.1. NM_001286102.1. [Q9Y466-2 ]
NP_003260.1. NM_003269.4. [Q9Y466-1 ]
UniGenei Hs.157688.

3D structure databases

ProteinModelPortali Q9Y466.
SMRi Q9Y466. Positions 16-382.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112956. 31 interactions.
STRINGi 9606.ENSP00000357982.

Chemistry

ChEMBLi CHEMBL1961788.

PTM databases

PhosphoSitei Q9Y466.

Polymorphism databases

DMDMi 9910804.

Proteomic databases

PaxDbi Q9Y466.
PRIDEi Q9Y466.

Protocols and materials databases

DNASUi 7101.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000368983 ; ENSP00000357979 ; ENSG00000112333 . [Q9Y466-2 ]
ENST00000368986 ; ENSP00000357982 ; ENSG00000112333 . [Q9Y466-1 ]
GeneIDi 7101.
KEGGi hsa:7101.
UCSCi uc003psg.3. human. [Q9Y466-1 ]

Organism-specific databases

CTDi 7101.
GeneCardsi GC06P108487.
HGNCi HGNC:7973. NR2E1.
HPAi HPA036954.
MIMi 603849. gene.
neXtProti NX_Q9Y466.
PharmGKBi PA31756.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG277339.
GeneTreei ENSGT00760000118948.
HOGENOMi HOG000260820.
HOVERGENi HBG005606.
InParanoidi Q9Y466.
KOi K08545.
OrthoDBi EOG7WT41C.
PhylomeDBi Q9Y466.
TreeFami TF315716.

Enzyme and pathway databases

Reactomei REACT_15525. Nuclear Receptor transcription pathway.
SignaLinki Q9Y466.

Miscellaneous databases

GeneWikii TLX.
GenomeRNAii 7101.
NextBioi 27781.
PROi Q9Y466.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y466.
CleanExi HS_NR2E1.
ExpressionAtlasi Q9Y466. baseline and differential.
Genevestigatori Q9Y466.

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 human homologue of the Drosophila tailless gene (TLX): characterization and mapping to a region of common deletion in human lymphoid leukemia on chromosome 6q21."
    Jackson A., Panayiotidis P., Foroni L.
    Genomics 50:34-43(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Fetal brain.
  2. "Cell-type-specific regulation of the retinoic acid receptor mediated by the orphan nuclear receptor TLX."
    Kobayashi M., Yu R.T., Yasuda K., Umesono K.
    Mol. Cell. Biol. 20:8731-8739(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), POSSIBLE FUNCTION.
    Tissue: Brain.
  3. Hua F., Wu J., Zhang B., Peng X., Yuan J., Qiang B.
    Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Caudate nucleus.
  5. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] (ISOFORM 1).
    Tissue: Brain.

Entry informationi

Entry nameiNR2E1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y466
Secondary accession number(s): Q6ZMP8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: October 29, 2014
This is version 138 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3