Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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 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

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

BioCyciZFISH:ENSG00000112333-MONOMER.
ReactomeiR-HSA-383280. Nuclear Receptor transcription pathway.
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

HGNCiHGNC:7973. NR2E1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

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.
PeptideAtlasiQ9Y466.
PRIDEiQ9Y466.

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.
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. 32 interactors.
STRINGi9606.ENSP00000357982.

Structurei

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...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni187 – 354Ligand-bindingBy similarityAdd BLAST168
Regioni341 – 385Required for transcriptional repressionBy similarityAdd BLAST45

Compositional bias

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

Sequence similaritiesi

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

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.
OMAiGPPFFTT.
OrthoDBiEOG091G0AV3.
PhylomeDBiQ9Y466.
TreeFamiTF315716.

Family and domain databases

Gene3Di1.10.565.10. 2 hits.
3.30.50.10. 1 hit.
InterProiIPR000536. Nucl_hrmn_rcpt_lig-bd.
IPR001723. Nuclear_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)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. 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.4. 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
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4XAJX-ray3.55A/B/C/D180-383[»]
ProteinModelPortaliQ9Y466.
SMRiQ9Y466.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112956. 32 interactors.
STRINGi9606.ENSP00000357982.

Chemistry databases

ChEMBLiCHEMBL1961788.

PTM databases

iPTMnetiQ9Y466.
PhosphoSitePlusiQ9Y466.

Polymorphism and mutation databases

DMDMi9910804.

Proteomic databases

PaxDbiQ9Y466.
PeptideAtlasiQ9Y466.
PRIDEiQ9Y466.

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.
GeneCardsiNR2E1.
HGNCiHGNC:7973. NR2E1.
HPAiHPA036954.
HPA055642.
MIMi603849. gene.
neXtProtiNX_Q9Y466.
OpenTargetsiENSG00000112333.
PharmGKBiPA31756.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112333-MONOMER.
ReactomeiR-HSA-383280. Nuclear Receptor transcription pathway.
SignaLinkiQ9Y466.
SIGNORiQ9Y466.

Miscellaneous databases

GeneWikiiTLX.
GenomeRNAii7101.
PROiQ9Y466.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112333.
CleanExiHS_NR2E1.
ExpressionAtlasiQ9Y466. baseline and differential.
GenevisibleiQ9Y466. HS.

Family and domain databases

Gene3Di1.10.565.10. 2 hits.
3.30.50.10. 1 hit.
InterProiIPR000536. Nucl_hrmn_rcpt_lig-bd.
IPR001723. Nuclear_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...

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: November 2, 2016
This is version 155 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

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 one 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.