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Entry version 194 (13 Feb 2019)
Sequence version 2 (18 Oct 2001)
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Protein

Regulator of nonsense transcripts 1

Gene

UPF1

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

RNA-dependent helicase and ATPase required for nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited to mRNAs upon translation termination and undergoes a cycle of phosphorylation and dephosphorylation; its phosphorylation appears to be a key step in NMD. Recruited by release factors to stalled ribosomes together with the SMG1C protein kinase complex to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) (located 50-55 or more nucleotides downstream from the termination codon) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Phosphorylated UPF1 is recognized by EST1B/SMG5, SMG6 and SMG7 which are thought to provide a link to the mRNA degradation machinery involving exonucleolytic and endonucleolytic pathways, and to serve as adapters to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation and allowing the recycling of NMD factors. UPF1 can also activate NMD without UPF2 or UPF3, and in the absence of the NMD-enhancing downstream EJC indicative for alternative NMD pathways. Plays a role in replication-dependent histone mRNA degradation at the end of phase S; the function is independent of UPF2. For the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed. The ATPase activity of UPF1 is required for disassembly of mRNPs undergoing NMD. Essential for embryonic viability.6 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei486ATP1
Binding sitei676ATP1
Binding sitei713ATP1
Binding sitei844ATP1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 fingeri121 – 272UPF1-typeAdd BLAST152
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi506 – 510ATP5

<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

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent RNA helicase activity Source: UniProtKB
  • chromatin binding Source: HGNC
  • helicase activity Source: UniProtKB
  • RNA binding Source: UniProtKB
  • telomeric DNA binding Source: BHF-UCL
  • zinc ion binding Source: InterPro

GO - Biological processi

<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

Molecular functionHelicase, Hydrolase, RNA-binding
Biological processHost-virus interaction, Nonsense-mediated mRNA decay
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-975956 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

SIGNOR Signaling Network Open Resource

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SIGNORi
Q92900

<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_and_taxonomy_section">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:
Regulator of nonsense transcripts 1 (EC:3.6.4.-)
Alternative name(s):
ATP-dependent helicase RENT1
Nonsense mRNA reducing factor 1
Short name:
NORF1
Up-frameshift suppressor 1 homolog
Short name:
hUpf1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:UPF1
Synonyms:KIAA0221, RENT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000005007.12

Human Gene Nomenclature Database

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HGNCi
HGNC:9962 UPF1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601430 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q92900

<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

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

Keywords - Cellular componenti

Cytoplasm, 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi126C → S: Abolishes ability to interact with UPF2/RENT2 and copurifies with greater amounts of SMG1, SMG8 and SMG9. 2 Publications1
Mutagenesisi506 – 508GTG → RTE: Prevents dephosphorylation and targets the protein to the P-body. 1 Publication3
Mutagenesisi509K → A: Inhibits histone mRNA degradation, ATPase activity and ATP binding. 3 Publications1
Mutagenesisi610 – 611KR → AA: Impairs RNA binding. 2
Mutagenesisi615R → A: Impairs RNA binding. 1 Publication1
Mutagenesisi647 – 648DE → AA: Loss of ATPase activity and helicase activity. 2 Publications2
Mutagenesisi647 – 648DE → AA: Loss of ATPase activity and helicase activity. Inhibits ZC3H12A-mediated IL6 mRNA degradation. 3 Publications2
Mutagenesisi676Q → A: Impairs ATPase activity, no effect on ATP binding. 1 Publication1
Mutagenesisi714R → A: Impairs ATPase activity and ATP binding. 1 Publication1
Mutagenesisi843R → A: Inhibits histone mRNA degradation. 2 Publications1
Mutagenesisi843R → C: Abolishes NMD. 2 Publications1
Mutagenesisi876R → A: Impairs ATPase activity and ATP binding. 1 Publication1
Mutagenesisi1084S → A: Impairs association with UPF2, SMG1 and SMG7 and impairs phosphorylation; when associated with A-1089, A-1107 and A-1127. 1 Publication1
Mutagenesisi1089S → A: Impairs association with UPF2, SMG1 and SMG7 and impairs phosphorylation; when associated with A-1084, A-1107 and A-1127. 2 Publications1
Mutagenesisi1089S → A: Still phosphorylated but with less efficiency. 2 Publications1
Mutagenesisi1107S → A: Impairs association with UPF2, SMG1 and SMG7 and impairs phosphorylation; when associated with A-1084, A-1089 and A-1127. 2 Publications1
Mutagenesisi1107S → A: Impairs phosphorylation. 2 Publications1
Mutagenesisi1108Q → N: Impairs phosphorylation. 1 Publication1
Mutagenesisi1127S → A: Impairs association with UPF2, SMG1 and SMG7 and impairs phosphorylation; when associated with A-1084, A-1089 and A-1107. 1 Publication1

Organism-specific databases

DisGeNET

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DisGeNETi
5976

Open Targets

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OpenTargetsi
ENSG00000005007

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA34328

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
UPF1

Domain mapping of disease mutations (DMDM)

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DMDMi
17380291

<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 ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000807161 – 1129Regulator of nonsense transcripts 1Add BLAST1129

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 residuei10PhosphoserineCombined sources1
Modified residuei31PhosphoserineCombined sources1
Modified residuei565PhosphoserineCombined sources1
Modified residuei956PhosphoserineCombined sources1
Modified residuei1019Omega-N-methylarginineCombined sources1
Modified residuei1089Phosphoserine2 Publications1
Modified residuei1107PhosphoserineCombined sources2 Publications1
Modified residuei1110PhosphoserineCombined sources1
Modified residuei1127PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by SMG1; required for formation of mRNA surveillance complexes.5 Publications

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q92900

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q92900

MaxQB - The MaxQuant DataBase

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MaxQBi
Q92900

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

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PaxDbi
Q92900

PeptideAtlas

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PeptideAtlasi
Q92900

PRoteomics IDEntifications database

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PRIDEi
Q92900

ProteomicsDB human proteome resource

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ProteomicsDBi
75581
75582 [Q92900-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q92900

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

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PhosphoSitePlusi
Q92900

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q92900

<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

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000005007 Expressed in 210 organ(s), highest expression level in cerebellar hemisphere

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q92900 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92900 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA019587
HPA020857

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Found in a post-splicing messenger ribonucleoprotein (mRNP) complex (PubMed:21419344). Associates with the exon junction complex (EJC) (PubMed:11546874, PubMed:16452507). Associates with the SGM1C complex; is phosphorylated by the complex kinase component SGM1 (PubMed:19417104). Interacts with UPF2 (PubMed:11163187, PubMed:11073994, PubMed:11113196, PubMed:19556969). Interacts with UPF3A and UPF3B (PubMed:11163187). Interacts with EST1A (PubMed:12554878). Interacts with SLBP (PubMed:16086026). Interacts (when hyperphosphorylated) with PNRC2 (PubMed:19150429). Interacts with AGO1 and AGO2 (PubMed:17932509). Interacts with GSPT2 (PubMed:18447585). Interacts with isoform 1 and isoform 5 of ADAR/ADAR1 (PubMed:18362360). Interacts with SMG7 (PubMed:15721257). Interacts with ZC3H12A; this interaction occurs in a mRNA translationally active- and termination-dependent manner and is essential for ZC3H12A-mediated degradation of target mRNAs (PubMed:26000482). Interacts with CPSF6 (PubMed:19864460). Interacts with MOV10; the interaction is direct and RNA-dependent (PubMed:24726324).18 Publications
(Microbial infection) Interacts with human T-cell leukemia virus 1/HTLV-1 protein Tax; this interaction inhibits the host nonsense-mediated mRNA decay (NMD).1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111908, 263 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q92900

Database of interacting proteins

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DIPi
DIP-29875N

Protein interaction database and analysis system

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IntActi
Q92900, 124 interactors

Molecular INTeraction database

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MINTi
Q92900

STRING: functional protein association networks

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STRINGi
9606.ENSP00000262803

<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

11129
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2GJKX-ray2.60A295-925[»]
2GK6X-ray2.40A/B295-925[»]
2GK7X-ray2.80A295-925[»]
2IYKX-ray2.95A/B115-272[»]
2WJVX-ray2.85A/B115-925[»]
2WJYX-ray2.50A115-925[»]
2XZOX-ray2.40A295-925[»]
2XZPX-ray2.72A295-925[»]
6EJ5X-ray3.34A295-925[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q92900

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

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SMRi
Q92900

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q92900

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 415Sufficient for interaction with RENT2Add BLAST415

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>Motifi1089 – 1090[ST]-Q motif 12
Motifi1107 – 1108[ST]-Q motif 22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi47 – 80Ala/Gly/Pro-richAdd BLAST34
Compositional biasi1042 – 1129Gln/Ser-richAdd BLAST88

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The [ST]-Q motif constitutes a recognition sequence for kinases from the PI3/PI4-kinase family.

<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 DNA2/NAM7 helicase family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri121 – 272UPF1-typeAdd BLAST152

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1802 Eukaryota
COG1112 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157413

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000205990

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG061556

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q92900

KEGG Orthology (KO)

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KOi
K14326

Identification of Orthologs from Complete Genome Data

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OMAi
QPCAAQN

Database of Orthologous Groups

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OrthoDBi
62494at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q92900

TreeFam database of animal gene trees

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TreeFami
TF300554

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR040812 DUF5599
IPR006935 Helicase/UvrB_N
IPR027417 P-loop_NTPase
IPR018999 RNA-helicase_UPF1_UPF2-interct

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF18141 DUF5599, 1 hit
PF04851 ResIII, 1 hit
PF09416 UPF1_Zn_bind, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q92900-1) [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
MSVEAYGPSS QTLTFLDTEE AELLGADTQG SEFEFTDFTL PSQTQTPPGG
60 70 80 90 100
PGGPGGGGAG GPGGAGAGAA AGQLDAQVGP EGILQNGAVD DSVAKTSQLL
110 120 130 140 150
AELNFEEDEE DTYYTKDLPI HACSYCGIHD PACVVYCNTS KKWFCNGRGN
160 170 180 190 200
TSGSHIVNHL VRAKCKEVTL HKDGPLGETV LECYNCGCRN VFLLGFIPAK
210 220 230 240 250
ADSVVVLLCR QPCASQSSLK DINWDSSQWQ PLIQDRCFLS WLVKIPSEQE
260 270 280 290 300
QLRARQITAQ QINKLEELWK ENPSATLEDL EKPGVDEEPQ HVLLRYEDAY
310 320 330 340 350
QYQNIFGPLV KLEADYDKKL KESQTQDNIT VRWDLGLNKK RIAYFTLPKT
360 370 380 390 400
DSGNEDLVII WLRDMRLMQG DEICLRYKGD LAPLWKGIGH VIKVPDNYGD
410 420 430 440 450
EIAIELRSSV GAPVEVTHNF QVDFVWKSTS FDRMQSALKT FAVDETSVSG
460 470 480 490 500
YIYHKLLGHE VEDVIIKCQL PKRFTAQGLP DLNHSQVYAV KTVLQRPLSL
510 520 530 540 550
IQGPPGTGKT VTSATIVYHL ARQGNGPVLV CAPSNIAVDQ LTEKIHQTGL
560 570 580 590 600
KVVRLCAKSR EAIDSPVSFL ALHNQIRNMD SMPELQKLQQ LKDETGELSS
610 620 630 640 650
ADEKRYRALK RTAERELLMN ADVICCTCVG AGDPRLAKMQ FRSILIDEST
660 670 680 690 700
QATEPECMVP VVLGAKQLIL VGDHCQLGPV VMCKKAAKAG LSQSLFERLV
710 720 730 740 750
VLGIRPIRLQ VQYRMHPALS AFPSNIFYEG SLQNGVTAAD RVKKGFDFQW
760 770 780 790 800
PQPDKPMFFY VTQGQEEIAS SGTSYLNRTE AANVEKITTK LLKAGAKPDQ
810 820 830 840 850
IGIITPYEGQ RSYLVQYMQF SGSLHTKLYQ EVEIASVDAF QGREKDFIIL
860 870 880 890 900
SCVRANEHQG IGFLNDPRRL NVALTRARYG VIIVGNPKAL SKQPLWNHLL
910 920 930 940 950
NYYKEQKVLV EGPLNNLRES LMQFSKPRKL VNTINPGARF MTTAMYDARE
960 970 980 990 1000
AIIPGSVYDR SSQGRPSSMY FQTHDQIGMI SAGPSHVAAM NIPIPFNLVM
1010 1020 1030 1040 1050
PPMPPPGYFG QANGPAAGRG TPKGKTGRGG RQKNRFGLPG PSQTNLPNSQ
1060 1070 1080 1090 1100
ASQDVASQPF SQGALTQGYI SMSQPSQMSQ PGLSQPELSQ DSYLGDEFKS
1110 1120
QIDVALSQDS TYQGERAYQH GGVTGLSQY
Length:1,129
Mass (Da):124,345
Last modified:October 18, 2001 - v2
<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:i6CCA6FE42B15BA28
GO
Isoform 2 (identifier: Q92900-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     353-363: Missing.

Show »
Length:1,118
Mass (Da):123,036
Checksum:iA485D3ED52C39D06
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA19664 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

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 conflicti61G → S in AAC51140 (PubMed:9064659).Curated1
Sequence conflicti466I → T in AAC51140 (PubMed:9064659).Curated1
Sequence conflicti478G → A in AAC50771 (PubMed:8855285).Curated1
Sequence conflicti524G → D in AAC50771 (PubMed:8855285).Curated1
Sequence conflicti557A → P in AAC50771 (PubMed:8855285).Curated1
Sequence conflicti901 – 902NY → IF in AAC50771 (PubMed:8855285).Curated2

Natural variant

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_05620769A → S1 PublicationCorresponds to variant dbSNP:rs17339451Ensembl.1

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_003393353 – 363Missing in isoform 2. 4 PublicationsAdd BLAST11

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U65533 mRNA Translation: AAC50771.1
U59323 mRNA Translation: AAC51140.1
D86988 mRNA Translation: BAA19664.2 Different initiation.
AF074016 mRNA Translation: AAC26788.1
AC003972 Genomic DNA Translation: AAB94785.1
BC039817 mRNA Translation: AAH39817.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12386.1 [Q92900-2]
CCDS74315.1 [Q92900-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001284478.1, NM_001297549.1 [Q92900-1]
NP_002902.2, NM_002911.3 [Q92900-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.515266

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000262803; ENSP00000262803; ENSG00000005007 [Q92900-2]
ENST00000599848; ENSP00000470142; ENSG00000005007 [Q92900-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5976

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5976

UCSC genome browser

More...
UCSCi
uc002nkf.4 human [Q92900-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
U65533 mRNA Translation: AAC50771.1
U59323 mRNA Translation: AAC51140.1
D86988 mRNA Translation: BAA19664.2 Different initiation.
AF074016 mRNA Translation: AAC26788.1
AC003972 Genomic DNA Translation: AAB94785.1
BC039817 mRNA Translation: AAH39817.1
CCDSiCCDS12386.1 [Q92900-2]
CCDS74315.1 [Q92900-1]
RefSeqiNP_001284478.1, NM_001297549.1 [Q92900-1]
NP_002902.2, NM_002911.3 [Q92900-2]
UniGeneiHs.515266

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2GJKX-ray2.60A295-925[»]
2GK6X-ray2.40A/B295-925[»]
2GK7X-ray2.80A295-925[»]
2IYKX-ray2.95A/B115-272[»]
2WJVX-ray2.85A/B115-925[»]
2WJYX-ray2.50A115-925[»]
2XZOX-ray2.40A295-925[»]
2XZPX-ray2.72A295-925[»]
6EJ5X-ray3.34A295-925[»]
ProteinModelPortaliQ92900
SMRiQ92900
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111908, 263 interactors
CORUMiQ92900
DIPiDIP-29875N
IntActiQ92900, 124 interactors
MINTiQ92900
STRINGi9606.ENSP00000262803

PTM databases

iPTMnetiQ92900
PhosphoSitePlusiQ92900
SwissPalmiQ92900

Polymorphism and mutation databases

BioMutaiUPF1
DMDMi17380291

Proteomic databases

EPDiQ92900
jPOSTiQ92900
MaxQBiQ92900
PaxDbiQ92900
PeptideAtlasiQ92900
PRIDEiQ92900
ProteomicsDBi75581
75582 [Q92900-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262803; ENSP00000262803; ENSG00000005007 [Q92900-2]
ENST00000599848; ENSP00000470142; ENSG00000005007 [Q92900-1]
GeneIDi5976
KEGGihsa:5976
UCSCiuc002nkf.4 human [Q92900-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5976
DisGeNETi5976
EuPathDBiHostDB:ENSG00000005007.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
UPF1
HGNCiHGNC:9962 UPF1
HPAiHPA019587
HPA020857
MIMi601430 gene
neXtProtiNX_Q92900
OpenTargetsiENSG00000005007
PharmGKBiPA34328

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1802 Eukaryota
COG1112 LUCA
GeneTreeiENSGT00940000157413
HOGENOMiHOG000205990
HOVERGENiHBG061556
InParanoidiQ92900
KOiK14326
OMAiQPCAAQN
OrthoDBi62494at2759
PhylomeDBiQ92900
TreeFamiTF300554

Enzyme and pathway databases

ReactomeiR-HSA-975956 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
SIGNORiQ92900

Miscellaneous databases

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

More...
ChiTaRSi
UPF1 human
EvolutionaryTraceiQ92900

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
UPF1

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

More...
GenomeRNAii
5976

Protein Ontology

More...
PROi
PR:Q92900

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000005007 Expressed in 210 organ(s), highest expression level in cerebellar hemisphere
ExpressionAtlasiQ92900 baseline and differential
GenevisibleiQ92900 HS

Family and domain databases

InterProiView protein in InterPro
IPR040812 DUF5599
IPR006935 Helicase/UvrB_N
IPR027417 P-loop_NTPase
IPR018999 RNA-helicase_UPF1_UPF2-interct
PfamiView protein in Pfam
PF18141 DUF5599, 1 hit
PF04851 ResIII, 1 hit
PF09416 UPF1_Zn_bind, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiRENT1_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: Q92900
Secondary accession number(s): O00239
, O43343, Q86Z25, Q92842
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: October 18, 2001
Last modified: February 13, 2019
This is version 194 of the entry and version 2 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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