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UniProtKB - Q96GM8 (TOE1_HUMAN)

Entry version 158 (07 Apr 2021)
Sequence version 1 (01 Dec 2001)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri294 – 322C3H1-typePROSITE-ProRule annotationAdd BLAST29

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96GM8

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Target of EGR1 protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TOE1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:15954, TOE1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613931, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96GM8

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000132773.11

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07885073R → S in PCH7. 1 PublicationCorresponds to variant dbSNP:rs774056037EnsemblClinVar.1
Natural variantiVAR_078851103A → T in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 PublicationCorresponds to variant dbSNP:rs371848318EnsemblClinVar.1
Natural variantiVAR_078852148F → Y in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 PublicationCorresponds to variant dbSNP:rs148067486EnsemblClinVar.1
Natural variantiVAR_078853173V → G in PCH7; reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs777030573EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs778263701EnsemblClinVar.1
Natural variantiVAR_078856253R → W in PCH7. 1 PublicationCorresponds to variant dbSNP:rs368182654EnsemblClinVar.1
Natural variantiVAR_078857319H → Q in PCH7. 1 PublicationCorresponds to variant dbSNP:rs758153898EnsemblClinVar.1
Natural variantiVAR_078858319H → Y in PCH7. 1 PublicationCorresponds to variant dbSNP:rs750266350EnsemblClinVar.1
Natural variantiVAR_078859496S → F in PCH7. 1 Publication1

Keywords - Diseasei

Disease variant, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		114034

MalaCards human disease database

More...MalaCardsi		TOE1
MIMi614969, phenotype

Open Targets

More...OpenTargetsi		ENSG00000132773

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		284339, Pontocerebellar hypoplasia type 7

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38064

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96GM8, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TOE1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74751888

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002708332 – 510Target of EGR1 protein 1Add BLAST509

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei5PhosphoserineCombined sources1
Modified residuei358PhosphoserineCombined sources1
Modified residuei428PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96GM8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96GM8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96GM8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96GM8

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q96GM8

PeptideAtlas

More...PeptideAtlasi		Q96GM8

PRoteomics IDEntifications database

More...PRIDEi		Q96GM8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		3971
76647 [Q96GM8-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96GM8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q96GM8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000132773, Expressed in lymph node and 229 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96GM8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000132773, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		125269, 78 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96GM8

Protein interaction database and analysis system

More...IntActi		Q96GM8, 58 interactors

Molecular INTeraction database

More...MINTi		Q96GM8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000361162

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96GM8, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1510
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q96GM8

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q96GM8

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi335 – 347Nuclear localization signal1 PublicationAdd BLAST13

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1990, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153167

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_044804_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96GM8

Identification of Orthologs from Complete Genome Data

More...OMAi		FSAFGWC

Database of Orthologous Groups

More...OrthoDBi		1402758at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96GM8

TreeFam database of animal gene trees

More...TreeFami		TF314502

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.420.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006941, RNase_CAF1
IPR012337, RNaseH-like_sf
IPR036397, RNaseH_sf
IPR000571, Znf_CCCH

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04857, CAF1, 2 hits
PF00642, zf-CCCH, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53098, SSF53098, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50103, ZF_C3H1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q96GM8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

Show »
Length:430
Mass (Da):47,890
Checksum:iFAEDF1B463013B44
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs774056037EnsemblClinVar.1
Natural variantiVAR_078851103A → T in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 PublicationCorresponds to variant dbSNP:rs371848318EnsemblClinVar.1
Natural variantiVAR_078852148F → Y in PCH7; reduced protein levels; decreased function in snRNA 3'-end processing. 1 PublicationCorresponds to variant dbSNP:rs148067486EnsemblClinVar.1
Natural variantiVAR_078853173V → G in PCH7; reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs777030573EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs778263701EnsemblClinVar.1
Natural variantiVAR_078856253R → W in PCH7. 1 PublicationCorresponds to variant dbSNP:rs368182654EnsemblClinVar.1
Natural variantiVAR_078857319H → Q in PCH7. 1 PublicationCorresponds to variant dbSNP:rs758153898EnsemblClinVar.1
Natural variantiVAR_078858319H → Y in PCH7. 1 PublicationCorresponds to variant dbSNP:rs750266350EnsemblClinVar.1
Natural variantiVAR_048752341R → H. Corresponds to variant dbSNP:rs9429157Ensembl.1
Natural variantiVAR_061109381E → K. Corresponds to variant dbSNP:rs61323219EnsemblClinVar.1
Natural variantiVAR_078859496S → F in PCH7. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05552919 – 111GVSKS…RQPDK → AEWAWGQEEFAEP in isoform 2. 1 PublicationAdd BLAST93

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS521.1 [Q96GM8-1]

NCBI Reference Sequences

More...RefSeqi		NP_079353.3, NM_025077.3 [Q96GM8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000372090; ENSP00000361162; ENSG00000132773 [Q96GM8-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		114034

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:114034

UCSC genome browser

More...UCSCi		uc009vxq.4, human [Q96GM8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS521.1 [Q96GM8-1]
RefSeqiNP_079353.3, NM_025077.3 [Q96GM8-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2FC6NMR-A285-321[»]
SMRiQ96GM8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi125269, 78 interactors
CORUMiQ96GM8
IntActiQ96GM8, 58 interactors
MINTiQ96GM8
STRINGi9606.ENSP00000361162

PTM databases

iPTMnetiQ96GM8
PhosphoSitePlusiQ96GM8

Genetic variation databases

BioMutaiTOE1
DMDMi74751888

Proteomic databases

EPDiQ96GM8
jPOSTiQ96GM8
MassIVEiQ96GM8
MaxQBiQ96GM8
PaxDbiQ96GM8
PeptideAtlasiQ96GM8
PRIDEiQ96GM8
ProteomicsDBi3971
76647 [Q96GM8-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		18606, 180 antibodies

The DNASU plasmid repository

More...DNASUi		114034

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		114034
DisGeNETi114034

GeneCards: human genes, protein and diseases

More...GeneCardsi		TOE1
HGNCiHGNC:15954, TOE1
HPAiENSG00000132773, Low tissue specificity
MalaCardsiTOE1
MIMi613931, gene
614969, phenotype
neXtProtiNX_Q96GM8
OpenTargetsiENSG00000132773
Orphaneti284339, Pontocerebellar hypoplasia type 7
PharmGKBiPA38064
VEuPathDBiHostDB:ENSG00000132773.11

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1990, Eukaryota
GeneTreeiENSGT00940000153167
HOGENOMiCLU_044804_1_0_1
InParanoidiQ96GM8
OMAiFSAFGWC
OrthoDBi1402758at2759
PhylomeDBiQ96GM8
TreeFamiTF314502

Enzyme and pathway databases

PathwayCommonsiQ96GM8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		114034, 386 hits in 999 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		TOE1, human
EvolutionaryTraceiQ96GM8

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TOE1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		114034
PharosiQ96GM8, Tbio

Protein Ontology

More...PROi		PR:Q96GM8
RNActiQ96GM8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000132773, Expressed in lymph node and 229 other tissues
GenevisibleiQ96GM8, HS

Family and domain databases

Gene3Di3.30.420.10, 1 hit
InterProiView protein in InterPro
IPR006941, RNase_CAF1
IPR012337, RNaseH-like_sf
IPR036397, RNaseH_sf
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTOE1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96GM8
Secondary accession number(s): B4DEM6
, Q6IA35, Q8IWN5, Q9H846
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: December 1, 2001
Last modified: April 7, 2021
This is version 158 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, 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 genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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