UniProtKB - Q96GM8 (TOE1_HUMAN)
Protein
Target of EGR1 protein 1
Gene
TOE1
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 294 – 322 | C3H1-typePROSITE-ProRule annotationAdd BLAST | 29 |
GO - Molecular functioni
- 3'-5'-exoribonuclease activity Source: HGNC
- metal ion binding Source: UniProtKB-KW
- poly(A)-specific ribonuclease activity Source: HGNC
- RNA binding Source: GO_Central
- snRNA binding Source: UniProtKB
GO - Biological processi
- RNA phosphodiester bond hydrolysis, exonucleolytic Source: HGNC
- snRNA 3'-end processing Source: UniProtKB
Keywordsi
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q96GM8 |
Names & Taxonomyi
Protein namesi | Recommended name: Target of EGR1 protein 1 |
Gene namesi | Name:TOE1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15954, TOE1 |
MIMi | 613931, gene |
neXtProti | NX_Q96GM8 |
VEuPathDBi | HostDB:ENSG00000132773.11 |
Subcellular locationi
Nucleus
- nucleolus 1 Publication
- Nucleus speckle 1 Publication
Note: Localizes to nuclear speckles.
Nucleus
- Cajal body Source: HGNC
- nuclear body Source: HPA
- nuclear speck Source: UniProtKB-SubCell
- nucleolus Source: UniProtKB-SubCell
- nucleoplasm Source: HPA
Other locations
- cytoplasm Source: HGNC
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Pontocerebellar hypoplasia 7 (PCH7)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078850 | 73 | R → S in PCH7. 1 PublicationCorresponds to variant dbSNP:rs774056037EnsemblClinVar. | 1 | |
Natural variantiVAR_078851 | 103 | A → T in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 PublicationCorresponds to variant dbSNP:rs371848318EnsemblClinVar. | 1 | |
Natural variantiVAR_078852 | 148 | F → Y in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 PublicationCorresponds to variant dbSNP:rs148067486EnsemblClinVar. | 1 | |
Natural variantiVAR_078853 | 173 | V → G in PCH7; reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs777030573EnsemblClinVar. | 1 | |
Natural variantiVAR_078809 | 220 | E → K in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 Publication | 1 | |
Natural variantiVAR_078854 | 231 – 510 | Missing in PCH7. 1 PublicationAdd BLAST | 280 | |
Natural variantiVAR_078855 | 239 | F → S in PCH7. 1 PublicationCorresponds to variant dbSNP:rs778263701EnsemblClinVar. | 1 | |
Natural variantiVAR_078856 | 253 | R → W in PCH7. 1 PublicationCorresponds to variant dbSNP:rs368182654EnsemblClinVar. | 1 | |
Natural variantiVAR_078857 | 319 | H → Q in PCH7. 1 PublicationCorresponds to variant dbSNP:rs758153898EnsemblClinVar. | 1 | |
Natural variantiVAR_078858 | 319 | H → Y in PCH7. 1 PublicationCorresponds to variant dbSNP:rs750266350EnsemblClinVar. | 1 | |
Natural variantiVAR_078859 | 496 | S → F in PCH7. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, NeurodegenerationOrganism-specific databases
DisGeNETi | 114034 |
MalaCardsi | TOE1 |
MIMi | 614969, phenotype |
OpenTargetsi | ENSG00000132773 |
Orphaneti | 284339, Pontocerebellar hypoplasia type 7 |
PharmGKBi | PA38064 |
Miscellaneous databases
Pharosi | Q96GM8, Tbio |
Genetic variation databases
BioMutai | TOE1 |
DMDMi | 74751888 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources1 Publication | |||
ChainiPRO_0000270833 | 2 – 510 | Target of EGR1 protein 1Add BLAST | 509 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 5 | PhosphoserineCombined sources | 1 | |
Modified residuei | 358 | PhosphoserineCombined sources | 1 | |
Modified residuei | 428 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q96GM8 |
jPOSTi | Q96GM8 |
MassIVEi | Q96GM8 |
MaxQBi | Q96GM8 |
PaxDbi | Q96GM8 |
PeptideAtlasi | Q96GM8 |
PRIDEi | Q96GM8 |
ProteomicsDBi | 3971 76647 [Q96GM8-1] |
PTM databases
iPTMneti | Q96GM8 |
PhosphoSitePlusi | Q96GM8 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000132773, Expressed in lymph node and 229 other tissues |
Genevisiblei | Q96GM8, HS |
Organism-specific databases
HPAi | ENSG00000132773, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with U1, U2, U4, U5 and U6 snRNAs.
1 PublicationBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 125269, 76 interactors |
CORUMi | Q96GM8 |
IntActi | Q96GM8, 58 interactors |
MINTi | Q96GM8 |
STRINGi | 9606.ENSP00000361162 |
Miscellaneous databases
RNActi | Q96GM8, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q96GM8 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q96GM8 |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 335 – 347 | Nuclear localization signal1 PublicationAdd BLAST | 13 |
Sequence similaritiesi
Belongs to the CAF1 family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 294 – 322 | C3H1-typePROSITE-ProRule annotationAdd BLAST | 29 |
Keywords - Domaini
Zinc-fingerPhylogenomic databases
eggNOGi | KOG1990, Eukaryota |
GeneTreei | ENSGT00940000153167 |
HOGENOMi | CLU_044804_1_0_1 |
InParanoidi | Q96GM8 |
OMAi | FSAFGWC |
OrthoDBi | 1402758at2759 |
PhylomeDBi | Q96GM8 |
TreeFami | TF314502 |
Family and domain databases
Gene3Di | 3.30.420.10, 1 hit |
InterProi | View protein in InterPro IPR006941, RNase_CAF1 IPR012337, RNaseH-like_sf IPR036397, RNaseH_sf IPR000571, Znf_CCCH |
Pfami | View protein in Pfam PF04857, CAF1, 2 hits PF00642, zf-CCCH, 1 hit |
SUPFAMi | SSF53098, SSF53098, 1 hit |
PROSITEi | View protein in PROSITE PS50103, ZF_C3H1, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q96GM8-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 12 | A → T in CAG33601 (Ref. 3) Curated | 1 | |
Sequence conflicti | 236 | H → R in BAB14774 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 435 | D → G in AAN75441 (PubMed:12562764).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078850 | 73 | R → S in PCH7. 1 PublicationCorresponds to variant dbSNP:rs774056037EnsemblClinVar. | 1 | |
Natural variantiVAR_078851 | 103 | A → T in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 PublicationCorresponds to variant dbSNP:rs371848318EnsemblClinVar. | 1 | |
Natural variantiVAR_078852 | 148 | F → Y in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 PublicationCorresponds to variant dbSNP:rs148067486EnsemblClinVar. | 1 | |
Natural variantiVAR_078853 | 173 | V → G in PCH7; reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs777030573EnsemblClinVar. | 1 | |
Natural variantiVAR_078809 | 220 | E → K in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 Publication | 1 | |
Natural variantiVAR_078854 | 231 – 510 | Missing in PCH7. 1 PublicationAdd BLAST | 280 | |
Natural variantiVAR_078855 | 239 | F → S in PCH7. 1 PublicationCorresponds to variant dbSNP:rs778263701EnsemblClinVar. | 1 | |
Natural variantiVAR_078856 | 253 | R → W in PCH7. 1 PublicationCorresponds to variant dbSNP:rs368182654EnsemblClinVar. | 1 | |
Natural variantiVAR_078857 | 319 | H → Q in PCH7. 1 PublicationCorresponds to variant dbSNP:rs758153898EnsemblClinVar. | 1 | |
Natural variantiVAR_078858 | 319 | H → Y in PCH7. 1 PublicationCorresponds to variant dbSNP:rs750266350EnsemblClinVar. | 1 | |
Natural variantiVAR_048752 | 341 | R → H. Corresponds to variant dbSNP:rs9429157Ensembl. | 1 | |
Natural variantiVAR_061109 | 381 | E → K. Corresponds to variant dbSNP:rs61323219EnsemblClinVar. | 1 | |
Natural variantiVAR_078859 | 496 | S → F in PCH7. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055529 | 19 – 111 | GVSKS…RQPDK → AEWAWGQEEFAEP in isoform 2. 1 PublicationAdd BLAST | 93 |
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 No translation available. BC009364 mRNA Translation: AAH09364.1 |
CCDSi | CCDS521.1 [Q96GM8-1] |
RefSeqi | NP_079353.3, NM_025077.3 [Q96GM8-1] |
Genome annotation databases
Ensembli | ENST00000372090; ENSP00000361162; ENSG00000132773 [Q96GM8-1] |
GeneIDi | 114034 |
KEGGi | hsa:114034 |
UCSCi | uc009vxq.4, human [Q96GM8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 No translation available. BC009364 mRNA Translation: AAH09364.1 |
CCDSi | CCDS521.1 [Q96GM8-1] |
RefSeqi | NP_079353.3, NM_025077.3 [Q96GM8-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2FC6 | NMR | - | A | 285-321 | [»] | |
SMRi | Q96GM8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 125269, 76 interactors |
CORUMi | Q96GM8 |
IntActi | Q96GM8, 58 interactors |
MINTi | Q96GM8 |
STRINGi | 9606.ENSP00000361162 |
PTM databases
iPTMneti | Q96GM8 |
PhosphoSitePlusi | Q96GM8 |
Genetic variation databases
BioMutai | TOE1 |
DMDMi | 74751888 |
Proteomic databases
EPDi | Q96GM8 |
jPOSTi | Q96GM8 |
MassIVEi | Q96GM8 |
MaxQBi | Q96GM8 |
PaxDbi | Q96GM8 |
PeptideAtlasi | Q96GM8 |
PRIDEi | Q96GM8 |
ProteomicsDBi | 3971 76647 [Q96GM8-1] |
Protocols and materials databases
Antibodypediai | 18606, 178 antibodies |
DNASUi | 114034 |
Genome annotation databases
Ensembli | ENST00000372090; ENSP00000361162; ENSG00000132773 [Q96GM8-1] |
GeneIDi | 114034 |
KEGGi | hsa:114034 |
UCSCi | uc009vxq.4, human [Q96GM8-1] |
Organism-specific databases
CTDi | 114034 |
DisGeNETi | 114034 |
GeneCardsi | TOE1 |
HGNCi | HGNC:15954, TOE1 |
HPAi | ENSG00000132773, Low tissue specificity |
MalaCardsi | TOE1 |
MIMi | 613931, gene 614969, phenotype |
neXtProti | NX_Q96GM8 |
OpenTargetsi | ENSG00000132773 |
Orphaneti | 284339, Pontocerebellar hypoplasia type 7 |
PharmGKBi | PA38064 |
VEuPathDBi | HostDB:ENSG00000132773.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1990, Eukaryota |
GeneTreei | ENSGT00940000153167 |
HOGENOMi | CLU_044804_1_0_1 |
InParanoidi | Q96GM8 |
OMAi | FSAFGWC |
OrthoDBi | 1402758at2759 |
PhylomeDBi | Q96GM8 |
TreeFami | TF314502 |
Enzyme and pathway databases
PathwayCommonsi | Q96GM8 |
Miscellaneous databases
BioGRID-ORCSi | 114034, 361 hits in 878 CRISPR screens |
ChiTaRSi | TOE1, human |
EvolutionaryTracei | Q96GM8 |
GeneWikii | TOE1 |
GenomeRNAii | 114034 |
Pharosi | Q96GM8, Tbio |
PROi | PR:Q96GM8 |
RNActi | Q96GM8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000132773, Expressed in lymph node and 229 other tissues |
Genevisiblei | Q96GM8, HS |
Family and domain databases
Gene3Di | 3.30.420.10, 1 hit |
InterProi | View protein in InterPro IPR006941, RNase_CAF1 IPR012337, RNaseH-like_sf IPR036397, RNaseH_sf IPR000571, Znf_CCCH |
Pfami | View protein in Pfam PF04857, CAF1, 2 hits PF00642, zf-CCCH, 1 hit |
SUPFAMi | SSF53098, SSF53098, 1 hit |
PROSITEi | View protein in PROSITE PS50103, ZF_C3H1, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TOE1_HUMAN | |
Accessioni | Q96GM8Primary (citable) accession number: Q96GM8 Secondary accession number(s): B4DEM6 Q9H846 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 9, 2007 |
Last sequence update: | December 1, 2001 | |
Last modified: | February 10, 2021 | |
This is version 157 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families