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Protein

Nuclear receptor subfamily 2 group E member 1

Gene

NR2E1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 acid receptor (RAR) regulation in retinal cells.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi13 – 90Nuclear receptorPROSITE-ProRule annotationAdd BLAST78
Zinc fingeri16 – 36NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri52 – 78NR C4-typePROSITE-ProRule annotationAdd BLAST27

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding, Receptor, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-8943724 Regulation of PTEN gene transcription
SignaLinkiQ9Y466
SIGNORiQ9Y466

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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112333.11
HGNCiHGNC:7973 NR2E1
MIMi603849 gene
neXtProtiNX_Q9Y466

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi7101
OpenTargetsiENSG00000112333
PharmGKBiPA31756

Chemistry databases

ChEMBLiCHEMBL1961788

Polymorphism and mutation databases

DMDMi9910804

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000535921 – 385Nuclear receptor subfamily 2 group E member 1Add BLAST385

Proteomic databases

PaxDbiQ9Y466
PRIDEiQ9Y466
ProteomicsDBi86113

PTM databases

iPTMnetiQ9Y466
PhosphoSitePlusiQ9Y466

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

BgeeiENSG00000112333 Expressed in 68 organ(s), highest expression level in secondary oocyte
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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112956, 35 interactors
IntActiQ9Y466, 5 interactors
MINTiQ9Y466
STRINGi9606.ENSP00000357982

Structurei

3D structure databases

ProteinModelPortaliQ9Y466
SMRiQ9Y466
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini155 – 383NR LBDPROSITE-ProRule annotationAdd BLAST229

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni341 – 385Required for transcriptional repressionBy similarityAdd BLAST45

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi343 – 347Poly-Leu5

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri16 – 36NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri52 – 78NR C4-typePROSITE-ProRule annotationAdd BLAST27

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00760000118948
HOGENOMiHOG000260820
HOVERGENiHBG005606
InParanoidiQ9Y466
KOiK08545
OMAiFPGVPMP
OrthoDBiEOG091G0AV3
PhylomeDBiQ9Y466
TreeFamiTF315716

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6PVF6A6PVF6_HUMAN
Nuclear receptor subfamily 2 group ...
NR2E1
45Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0546391 – 9MSKPAGSTS → MFRAGAEGAEKEPSPRPECR ADPGPGLGFPLGSGLPWPSL LESPGG in isoform 2. 1 Publication9

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 No translation available.
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.4 human [Q9Y466-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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 No translation available.
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
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4XAJX-ray3.55A/B/C/D180-383[»]
ProteinModelPortaliQ9Y466
SMRiQ9Y466
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112956, 35 interactors
IntActiQ9Y466, 5 interactors
MINTiQ9Y466
STRINGi9606.ENSP00000357982

Chemistry databases

ChEMBLiCHEMBL1961788

PTM databases

iPTMnetiQ9Y466
PhosphoSitePlusiQ9Y466

Polymorphism and mutation databases

DMDMi9910804

Proteomic databases

PaxDbiQ9Y466
PRIDEiQ9Y466
ProteomicsDBi86113

Protocols and materials databases

DNASUi7101
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368983; ENSP00000357979; ENSG00000112333 [Q9Y466-2]
ENST00000368986; ENSP00000357982; ENSG00000112333 [Q9Y466-1]
GeneIDi7101
KEGGihsa:7101
UCSCiuc003psg.4 human [Q9Y466-1]

Organism-specific databases

CTDi7101
DisGeNETi7101
EuPathDBiHostDB:ENSG00000112333.11
GeneCardsiNR2E1
HGNCiHGNC:7973 NR2E1
HPAiHPA036954
HPA055642
MIMi603849 gene
neXtProtiNX_Q9Y466
OpenTargetsiENSG00000112333
PharmGKBiPA31756
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00760000118948
HOGENOMiHOG000260820
HOVERGENiHBG005606
InParanoidiQ9Y466
KOiK08545
OMAiFPGVPMP
OrthoDBiEOG091G0AV3
PhylomeDBiQ9Y466
TreeFamiTF315716

Enzyme and pathway databases

ReactomeiR-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-8943724 Regulation of PTEN gene transcription
SignaLinkiQ9Y466
SIGNORiQ9Y466

Miscellaneous databases

GeneWikiiTLX
GenomeRNAii7101
PROiPR:Q9Y466
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112333 Expressed in 68 organ(s), highest expression level in secondary oocyte
CleanExiHS_NR2E1
ExpressionAtlasiQ9Y466 baseline and differential
GenevisibleiQ9Y466 HS

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNR2E1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y466
Secondary accession number(s): Q6ZMP8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: November 7, 2018
This is version 171 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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