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Protein

Target of EGR1 protein 1

Gene

TOE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Inhibits cell growth rate and cell cycle. Induces CDKN1A expression as well as TGF-beta expression. Mediates the inhibitory growth effect of EGR1. Involved in the maturation of snRNAs and snRNA 3'-tail processing (PubMed:28092684).2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri294 – 322C3H1-typePROSITE-ProRule annotationAdd BLAST29

GO - Molecular functioni

  • 3'-5'-exoribonuclease activity Source: HGNC
  • metal ion binding Source: UniProtKB-KW
  • poly(A)-specific ribonuclease activity Source: HGNC
  • snRNA binding Source: UniProtKB

GO - Biological processi

  • RNA phosphodiester bond hydrolysis, exonucleolytic Source: HGNC
  • snRNA 3'-end processing Source: UniProtKB

Keywordsi

LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Target of EGR1 protein 1
Gene namesi
Name:TOE1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:15954. TOE1.

Subcellular locationi

GO - Cellular componenti

  • Cajal body Source: HGNC
  • cytoplasm Source: HGNC
  • nuclear body Source: HPA
  • nuclear speck Source: UniProtKB-SubCell
  • nucleolus Source: UniProtKB-SubCell
  • nucleoplasm Source: HPA

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Pontocerebellar hypoplasia 7 (PCH7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of pontocerebellar hypoplasia, a group of related disorders characterized by underdevelopment of the pons and the cerebellum. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size. PCH7 patients manifest delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities.
See also OMIM:614969
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07885073R → S in PCH7. 1 Publication1
Natural variantiVAR_078851103A → T in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 Publication1
Natural variantiVAR_078852148F → Y in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 Publication1
Natural variantiVAR_078853173V → G in PCH7; reduced protein levels. 1 Publication1
Natural variantiVAR_078809220E → K in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 Publication1
Natural variantiVAR_078854231 – 510Missing in PCH7. 1 PublicationAdd BLAST280
Natural variantiVAR_078855239F → S in PCH7. 1 Publication1
Natural variantiVAR_078856253R → W in PCH7. 1 Publication1
Natural variantiVAR_078857319H → Q in PCH7. 1 Publication1
Natural variantiVAR_078858319H → Y in PCH7. 1 Publication1
Natural variantiVAR_078859496S → F in PCH7. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

MIMi614969. phenotype.
OpenTargetsiENSG00000132773.
PharmGKBiPA38064.

Polymorphism and mutation databases

BioMutaiTOE1.
DMDMi74751888.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00002708332 – 510Target of EGR1 protein 1Add BLAST509

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei5PhosphoserineCombined sources1
Modified residuei358PhosphoserineCombined sources1
Modified residuei428PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96GM8.
MaxQBiQ96GM8.
PaxDbiQ96GM8.
PeptideAtlasiQ96GM8.
PRIDEiQ96GM8.

PTM databases

iPTMnetiQ96GM8.
PhosphoSitePlusiQ96GM8.

Miscellaneous databases

PMAP-CutDBiQ96GM8.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000132773.
CleanExiHS_TOE1.
GenevisibleiQ96GM8. HS.

Organism-specific databases

HPAiHPA053775.
HPA069119.

Interactioni

Subunit structurei

Interacts with U1, U2, U4, U5 and U6 snRNAs.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TP53P046373EBI-717460,EBI-366083

Protein-protein interaction databases

BioGridi125269. 58 interactors.
IntActiQ96GM8. 41 interactors.
MINTiMINT-1378273.
STRINGi9606.ENSP00000361162.

Structurei

Secondary structure

1510
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi302 – 305Combined sources4
Helixi312 – 314Combined sources3
Beta strandi316 – 318Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2FC6NMR-A285-321[»]
ProteinModelPortaliQ96GM8.
SMRiQ96GM8.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96GM8.

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi335 – 347Nuclear localization signal1 PublicationAdd BLAST13

Sequence similaritiesi

Belongs to the CAF1 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri294 – 322C3H1-typePROSITE-ProRule annotationAdd BLAST29

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IR2Y. Eukaryota.
ENOG410XNUS. LUCA.
GeneTreeiENSGT00390000004077.
HOGENOMiHOG000231417.
HOVERGENiHBG080270.
InParanoidiQ96GM8.
KOiK13202.
OMAiGFNFNRQ.
OrthoDBiEOG091G0L18.
PhylomeDBiQ96GM8.
TreeFamiTF314502.

Family and domain databases

Gene3Di3.30.420.10. 1 hit.
InterProiView protein in InterPro
IPR006941. RNase_CAF1.
IPR012337. RNaseH-like_dom.
IPR000571. Znf_CCCH.
PfamiView protein in Pfam
PF04857. CAF1. 2 hits.
PF00642. zf-CCCH. 1 hit.
SUPFAMiSSF53098. SSF53098. 1 hit.
PROSITEiView protein in PROSITE
PS50103. ZF_C3H1. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q96GM8-1) [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
MAADSDDGAV SAPAASDGGV SKSTTSGEEL VVQVPVVDVQ SNNFKEMWPS
60 70 80 90 100
LLLAIKTANF VAVDTELSGL GDRKSLLNQC IEERYKAVCH AARTRSILSL
110 120 130 140 150
GLACFKRQPD KGEHSYLAQV FNLTLLCMEE YVIEPKSVQF LIQHGFNFNQ
160 170 180 190 200
QYAQGIPYHK GNDKGDESQS QSVRTLFLEL IRARRPLVLH NGLIDLVFLY
210 220 230 240 250
QNFYAHLPES LGTFTADLCE MFPAGIYDTK YAAEFHARFV ASYLEYAFRK
260 270 280 290 300
CERENGKQRA AGSPHLTLEF CNYPSSMRDH IDYRCCLPPA THRPHPTSIC
310 320 330 340 350
DNFSAYGWCP LGPQCPQSHD IDLIIDTDEA AAEDKRRRRR RREKRKRALL
360 370 380 390 400
NLPGTQTSGE AKDGPPKKQV CGDSIKPEET EQEVAADETR NLPHSKQGNK
410 420 430 440 450
NDLEMGIKAA RPEIADRATS EVPGSQASPN PVPGDGLHRA GFDAFMTGYV
460 470 480 490 500
MAYVEVSQGP QPCSSGPWLP ECHNKVYLSG KAVPLTVAKS QFSRSSKAHN
510
QKMKLTWGSS
Length:510
Mass (Da):56,548
Last modified:December 1, 2001 - v1
Checksum:i5E4616F650E12929
GO
Isoform 2 (identifier: Q96GM8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     19-111: GVSKSTTSGE...LACFKRQPDK → AEWAWGQEEFAEP

Note: No experimental confirmation available.
Show »
Length:430
Mass (Da):47,890
Checksum:iFAEDF1B463013B44
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti12A → T in CAG33601 (Ref. 3) Curated1
Sequence conflicti236H → R in BAB14774 (PubMed:14702039).Curated1
Sequence conflicti435D → G in AAN75441 (PubMed:12562764).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07885073R → S in PCH7. 1 Publication1
Natural variantiVAR_078851103A → T in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 Publication1
Natural variantiVAR_078852148F → Y in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 Publication1
Natural variantiVAR_078853173V → G in PCH7; reduced protein levels. 1 Publication1
Natural variantiVAR_078809220E → K in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 Publication1
Natural variantiVAR_078854231 – 510Missing in PCH7. 1 PublicationAdd BLAST280
Natural variantiVAR_078855239F → S in PCH7. 1 Publication1
Natural variantiVAR_078856253R → W in PCH7. 1 Publication1
Natural variantiVAR_078857319H → Q in PCH7. 1 Publication1
Natural variantiVAR_078858319H → Y in PCH7. 1 Publication1
Natural variantiVAR_048752341R → H. Corresponds to variant dbSNP:rs9429157Ensembl.1
Natural variantiVAR_061109381E → K. Corresponds to variant dbSNP:rs61323219Ensembl.1
Natural variantiVAR_078859496S → F in PCH7. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05552919 – 111GVSKS…RQPDK → AEWAWGQEEFAEP in isoform 2. 1 PublicationAdd BLAST93

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY169960 mRNA. Translation: AAN75441.1.
AK024011 mRNA. Translation: BAB14774.1.
AK293704 mRNA. Translation: BAG57137.1.
CR457320 mRNA. Translation: CAG33601.1.
AL359540 Genomic DNA. Translation: CAI21722.1.
BC009364 mRNA. Translation: AAH09364.1.
CCDSiCCDS521.1. [Q96GM8-1]
RefSeqiNP_079353.3. NM_025077.3. [Q96GM8-1]
UniGeneiHs.525091.

Genome annotation databases

EnsembliENST00000372090; ENSP00000361162; ENSG00000132773. [Q96GM8-1]
GeneIDi114034.
KEGGihsa:114034.
UCSCiuc009vxq.4. human. [Q96GM8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTOE1_HUMAN
AccessioniPrimary (citable) accession number: Q96GM8
Secondary accession number(s): B4DEM6
, Q6IA35, Q8IWN5, Q9H846
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: December 1, 2001
Last modified: August 30, 2017
This is version 133 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families