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Protein

Nuclear receptor subfamily 2 group E member 1

Gene

NR2E1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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). 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

GO - Biological processi

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 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:7973. NR2E1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31756.

Polymorphism and mutation databases

DMDMi9910804.

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.
GenevisibleiQ9Y466. HS.

Organism-specific databases

HPAiHPA036954.
HPA055642.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi112956. 27 interactions.
STRINGi9606.ENSP00000357982.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4XAJX-ray3.55A/B/C/D182-383[»]
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.
OMAiGPPFFTT.
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. AlignAdd to basket

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.
GeneIDi7101.
KEGGihsa:7101.
UCSCiuc003psg.3. human. [Q9Y466-1]

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.
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4XAJX-ray3.55A/B/C/D182-383[»]
ProteinModelPortaliQ9Y466.
SMRiQ9Y466. Positions 16-382.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112956. 27 interactions.
STRINGi9606.ENSP00000357982.

Chemistry

ChEMBLiCHEMBL1961788.

PTM databases

PhosphoSiteiQ9Y466.

Polymorphism and mutation databases

DMDMi9910804.

Proteomic databases

PaxDbiQ9Y466.
PRIDEiQ9Y466.

Protocols and materials databases

DNASUi7101.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi7101.
GeneCardsiGC06P108487.
HGNCiHGNC:7973. NR2E1.
HPAiHPA036954.
HPA055642.
MIMi603849. gene.
neXtProtiNX_Q9Y466.
PharmGKBiPA31756.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG277339.
GeneTreeiENSGT00760000118948.
HOGENOMiHOG000260820.
HOVERGENiHBG005606.
InParanoidiQ9Y466.
KOiK08545.
OMAiGPPFFTT.
OrthoDBiEOG7WT41C.
PhylomeDBiQ9Y466.
TreeFamiTF315716.

Enzyme and pathway databases

ReactomeiREACT_15525. Nuclear Receptor transcription pathway.
SignaLinkiQ9Y466.

Miscellaneous databases

GeneWikiiTLX.
GenomeRNAii7101.
NextBioi27781.
PROiQ9Y466.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y466.
CleanExiHS_NR2E1.
ExpressionAtlasiQ9Y466. baseline and differential.
GenevisibleiQ9Y466. HS.

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]
ProtoNetiSearch...

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: July 22, 2015
This is version 144 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.