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UniProtKB - Q92900 (RENT1_HUMAN)

Entry version 201 (16 Oct 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 <a href="http://www.uniprot.org/help/function_section">Function</a> 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 <a href="http://www.uniprot.org/help/function_section">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 fingeri121 – 272UPF1-typeAdd BLAST152
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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

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

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

More...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

More...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 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_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

Human Gene Nomenclature Database

More...HGNCi		HGNC:9962 UPF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601430 gene

neXtProt; the human protein knowledge platform

More...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

More...DisGeNETi		5976

Open Targets

More...OpenTargetsi		ENSG00000005007

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34328

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q92900

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		UPF1

Domain mapping of disease mutations (DMDM)

More...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

More...EPDi		Q92900

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q92900

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q92900

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q92900

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

More...PaxDbi		Q92900

PeptideAtlas

More...PeptideAtlasi		Q92900

PRoteomics IDEntifications database

More...PRIDEi		Q92900

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75581 [Q92900-1]
75582 [Q92900-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q92900

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

More...PhosphoSitePlusi		Q92900

SwissPalm database of S-palmitoylation events

More...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

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

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q92900 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q92900 HS

Organism-specific databases

Human Protein Atlas

More...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).

Interacts with SHFL; the interaction increases in presence of RNA (PubMed:27974568).

19 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)

More...BioGridi		111908, 278 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q92900

Database of interacting proteins

More...DIPi		DIP-29875N

Protein interaction database and analysis system

More...IntActi		Q92900, 161 interactors

Molecular INTeraction database

More...MINTi		Q92900

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000470142

<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

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

More...SMRi		Q92900

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		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

More...eggNOGi		KOG1802 Eukaryota
COG1112 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157413

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000205990

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92900

KEGG Orthology (KO)

More...KOi		K14326

Identification of Orthologs from Complete Genome Data

More...OMAi		QPCAAQN

Database of Orthologous Groups

More...OrthoDBi		62494at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q92900

TreeFam database of animal gene trees

More...TreeFami		TF300554

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR041679 DNA2/NAM7-like_AAA
IPR041677 DNA2/NAM7_AAA_11
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
PF13086 AAA_11, 1 hit
PF13087 AAA_12, 1 hit
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>. 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_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 <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
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. Extended N-terminus.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

More...EMBLi

GenBank nucleotide sequence database

More...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]

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]

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
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[»]
SMRiQ92900
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi111908, 278 interactors
CORUMiQ92900
DIPiDIP-29875N
IntActiQ92900, 161 interactors
MINTiQ92900
STRINGi9606.ENSP00000470142

PTM databases

iPTMnetiQ92900
PhosphoSitePlusiQ92900
SwissPalmiQ92900

Polymorphism and mutation databases

BioMutaiUPF1
DMDMi17380291

Proteomic databases

EPDiQ92900
jPOSTiQ92900
MassIVEiQ92900
MaxQBiQ92900
PaxDbiQ92900
PeptideAtlasiQ92900
PRIDEiQ92900
ProteomicsDBi75581 [Q92900-1]
75582 [Q92900-2]

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

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
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
PharosiQ92900

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
IPR041679 DNA2/NAM7-like_AAA
IPR041677 DNA2/NAM7_AAA_11
IPR040812 DUF5599
IPR006935 Helicase/UvrB_N
IPR027417 P-loop_NTPase
IPR018999 RNA-helicase_UPF1_UPF2-interct
PfamiView protein in Pfam
PF13086 AAA_11, 1 hit
PF13087 AAA_12, 1 hit
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...

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 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: October 16, 2019
This is version 201 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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