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UniProtKB - Q9BZI7 (REN3B_HUMAN)

Entry version 175 (07 Apr 2021)
Sequence version 1 (01 Jun 2001)
Previous versions | rss
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Protein

Regulator of nonsense transcripts 3B

Gene

UPF3B

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

Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of exon-exon junctions. In vitro, stimulates translation; the function is independent of association with UPF2 and components of the EJC core.5 Publications

<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 functionRNA-binding
Biological processmRNA transport, Nonsense-mediated mRNA decay, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BZI7

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-159236, Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72163, mRNA Splicing - Major Pathway
R-HSA-72187, mRNA 3'-end processing
R-HSA-73856, RNA Polymerase II Transcription Termination
R-HSA-9010553, Regulation of expression of SLITs and ROBOs
R-HSA-975957, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9BZI7

<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:
Regulator of nonsense transcripts 3B
Alternative name(s):
Nonsense mRNA reducing factor 3B
Up-frameshift suppressor 3 homolog B
Short name:
hUpf3B
Up-frameshift suppressor 3 homolog on chromosome X
Short name:
hUpf3p-X
<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:UPF3B
Synonyms:RENT3B, UPF3X
<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 X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:20439, UPF3B

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300298, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BZI7

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000125351.10

<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

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

<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

Mental retardation, X-linked, syndromic, 14 (MRXS14)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS14 patients manifest mental retardation associated with other variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities.
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_037666160Y → D in MRXS14. 1 PublicationCorresponds to variant dbSNP:rs122468182EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi52K → E: Abolishes interaction with UPF2. 1 Publication1
Mutagenesisi53 – 58VVIRRL → AVARRA: Abolishes interaction with UPF2. 1 Publication6
Mutagenesisi56R → E: Does not abolish interaction with UPF2. 1 Publication1
Mutagenesisi117 – 119YVF → DVD: Abolishes interaction with UPF2. 1 Publication3
Mutagenesisi430R → A: Reduces NMD. 1 Publication1
Mutagenesisi432R → A: Reduces NMD. 2 Publications1
Mutagenesisi434 – 447Missing : Abolishes NMD. 1 PublicationAdd BLAST14
Mutagenesisi434K → A: Reduces NMD. 1 Publication1
Mutagenesisi435D → A: Reduces NMD. 1 Publication1
Mutagenesisi436R → A: Impairs association with EJC. 2 Publications1
Mutagenesisi436R → A: Reduces NMD. 2 Publications1
Mutagenesisi441L → F: Reduces NMD. 1 Publication1
Mutagenesisi442Y → A: Impairs association with EJC. 1 Publication1
Mutagenesisi447R → E: Abolishes NMD; when associated with E-449 and E-451. 1 Publication1
Mutagenesisi449R → E: Abolishes NMD; when associated with E-447 and E-451. 1 Publication1
Mutagenesisi451R → E: Abolishes NMD; when associated with E-447 and E-449. 1 Publication1

Keywords - Diseasei

Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		65109

MalaCards human disease database

More...MalaCardsi		UPF3B
MIMi300676, phenotype

Open Targets

More...OpenTargetsi		ENSG00000125351

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

More...Orphaneti		323, NON RARE IN EUROPE: FG syndrome phenotypic spectrum
776, X-linked intellectual disability with marfanoid habitus
777, X-linked non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA128394708

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BZI7, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		UPF3B

Domain mapping of disease mutations (DMDM)

More...DMDMi		60390643

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002152971 – 483Regulator of nonsense transcripts 3BAdd BLAST483

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 residuei169PhosphothreonineCombined sources1
Modified residuei198PhosphothreonineCombined sources1
Modified residuei310PhosphoserineCombined sources1
Modified residuei447Omega-N-methylarginineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BZI7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BZI7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BZI7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BZI7

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

More...PaxDbi		Q9BZI7

PeptideAtlas

More...PeptideAtlasi		Q9BZI7

PRoteomics IDEntifications database

More...PRIDEi		Q9BZI7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79849 [Q9BZI7-1]
79850 [Q9BZI7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BZI7

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

More...PhosphoSitePlusi		Q9BZI7

<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

Expressed in testis, uterus, prostate, heart, muscle, brain, spinal cord and placenta.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000125351, Expressed in sural nerve and 221 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BZI7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BZI7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000125351, 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

Found in a post-splicing messenger ribonucleoprotein (mRNP) complex. Core component of the mRNA splicing-dependent exon junction complex (EJC); the core complex contains CASC3, EIF4A3, MAGOH or MAGOHB, and RBM8A. The EJC core components EIF4A3 and the MAGOH-RBM8A dimer form a composite binding site for UPF3B which overlaps with the EJC binding site for WIBG (PubMed:16601204, PubMed:18066079, PubMed:23917022, PubMed:20479275).

Interacts with EST1A, UPF2 and RBM8A (PubMed:12554878, PubMed:18066079, PubMed:15004547).

Interacts with CPSF6 (PubMed:19864460).

13 Publications

<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		122396, 63 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9BZI7

Database of interacting proteins

More...DIPi		DIP-31143N

Protein interaction database and analysis system

More...IntActi		Q9BZI7, 34 interactors

Molecular INTeraction database

More...MINTi		Q9BZI7

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000276201

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BZI7, 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

1483
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		Q9BZI7

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		Q9BZI7

<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>Regioni30 – 255Necessary for interaction with UPF2Add BLAST226
Regioni52 – 57Binds to UPF26
Regioni424 – 483Sufficient for association with EJC core1 PublicationAdd BLAST60
Regioni430 – 447Necessary for interaction with RBM8A and for activating NMDAdd BLAST18

<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 RENT3 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1295, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000017146

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_041202_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BZI7

Identification of Orthologs from Complete Genome Data

More...OMAi		DRCPEKE

Database of Orthologous Groups

More...OrthoDBi		737663at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BZI7

TreeFam database of animal gene trees

More...TreeFami		TF316034

Family and domain databases

Conserved Domains Database

More...CDDi		cd12728, RRM_like_Smg4_UPF3B, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.70.330, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00251

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR012677, Nucleotide-bd_a/b_plait_sf
IPR035979, RBD_domain_sf
IPR039722, Upf3
IPR005120, UPF3_dom
IPR034979, UPF3B_RRM-like

The PANTHER Classification System

More...PANTHERi		PTHR13112, PTHR13112, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03467, Smg4_UPF3, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54928, SSF54928, 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.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BZI7-1) [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
MKEEKEHRPK EKRVTLLTPA GATGSGGGTS GDSSKGEDKQ DRNKEKKEAL 
        60         70         80         90        100
SKVVIRRLPP TLTKEQLQEH LQPMPEHDYF EFFSNDTSLY PHMYARAYIN 
       110        120        130        140        150
FKNQEDIILF RDRFDGYVFL DNKGQEYPAI VEFAPFQKAA KKKTKKRDTK 
       160        170        180        190        200
VGTIDDDPEY RKFLESYATD NEKMTSTPET LLEEIEAKNR ELIAKKTTPL 
       210        220        230        240        250
LSFLKNKQRM REEKREERRR REIERKRQRE EERRKWKEEE KRKRKDIEKL 
       260        270        280        290        300
KKIDRIPERD KLKDEPKIKV HRFLLQAVNQ KNLLKKPEKG DEKELDKREK 
       310        320        330        340        350
AKKLDKENLS DERASGQSCT LPKRSDSELK DEKPKRPEDE SGRDYRERER 
       360        370        380        390        400
EYERDQERIL RERERLKRQE EERRRQKERY EKEKTFKRKE EEMKKEKDTL 
       410        420        430        440        450
RDKGKKAEST ESIGSSEKTE KKEEVVKRDR IRNKDRPAMQ LYQPGARSRN 
       460        470        480 
RLCPPDDSTK SGDSAAERKQ ESGISHRKEG GEE
Length:483
Mass (Da):57,762
Last modified:June 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:iF5A8A395783D1A69
GO
Isoform 2 (identifier: Q9BZI7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     270-282: Missing.

Show »
Length:470
Mass (Da):56,213
Checksum:iC012044D45D9957F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WYC8A0A087WYC8_HUMAN
Regulator of nonsense transcripts 3...
UPF3B
217Annotation score:

Annotation score:2 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>
A0A1B0GVA2A0A1B0GVA2_HUMAN
Regulator of nonsense transcripts 3...
UPF3B
232Annotation score:

Annotation score:1 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 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 conflicti358R → H in AAI21018 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037666160Y → D in MRXS14. 1 PublicationCorresponds to variant dbSNP:rs122468182EnsemblClinVar.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_012963270 – 282Missing in isoform 2. 2 PublicationsAdd BLAST13

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
AY013251 mRNA Translation: AAG48511.1
AF318576 mRNA Translation: AAG60691.1
CH471161 Genomic DNA Translation: EAW89842.1
CH471161 Genomic DNA Translation: EAW89844.1
CH471161 Genomic DNA Translation: EAW89845.1
CH471161 Genomic DNA Translation: EAW89846.1
BC121017 mRNA Translation: AAI21018.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14587.1 [Q9BZI7-2]
CCDS14588.1 [Q9BZI7-1]

NCBI Reference Sequences

More...RefSeqi		NP_075386.1, NM_023010.3 [Q9BZI7-2]
NP_542199.1, NM_080632.2 [Q9BZI7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000276201; ENSP00000276201; ENSG00000125351 [Q9BZI7-1]
ENST00000345865; ENSP00000245418; ENSG00000125351 [Q9BZI7-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		65109

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:65109

UCSC genome browser

More...UCSCi		uc004erz.3, human [Q9BZI7-1]

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
AY013251 mRNA Translation: AAG48511.1
AF318576 mRNA Translation: AAG60691.1
CH471161 Genomic DNA Translation: EAW89842.1
CH471161 Genomic DNA Translation: EAW89844.1
CH471161 Genomic DNA Translation: EAW89845.1
CH471161 Genomic DNA Translation: EAW89846.1
BC121017 mRNA Translation: AAI21018.1
CCDSiCCDS14587.1 [Q9BZI7-2]
CCDS14588.1 [Q9BZI7-1]
RefSeqiNP_075386.1, NM_023010.3 [Q9BZI7-2]
NP_542199.1, NM_080632.2 [Q9BZI7-1]

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
1UW4X-ray1.95A/C50-140[»]
2XB2X-ray3.40G/U424-483[»]
SMRiQ9BZI7
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi122396, 63 interactors
CORUMiQ9BZI7
DIPiDIP-31143N
IntActiQ9BZI7, 34 interactors
MINTiQ9BZI7
STRINGi9606.ENSP00000276201

PTM databases

iPTMnetiQ9BZI7
PhosphoSitePlusiQ9BZI7

Genetic variation databases

BioMutaiUPF3B
DMDMi60390643

Proteomic databases

EPDiQ9BZI7
jPOSTiQ9BZI7
MassIVEiQ9BZI7
MaxQBiQ9BZI7
PaxDbiQ9BZI7
PeptideAtlasiQ9BZI7
PRIDEiQ9BZI7
ProteomicsDBi79849 [Q9BZI7-1]
79850 [Q9BZI7-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		464, 95 antibodies

Genome annotation databases

EnsembliENST00000276201; ENSP00000276201; ENSG00000125351 [Q9BZI7-1]
ENST00000345865; ENSP00000245418; ENSG00000125351 [Q9BZI7-2]
GeneIDi65109
KEGGihsa:65109
UCSCiuc004erz.3, human [Q9BZI7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		65109
DisGeNETi65109

GeneCards: human genes, protein and diseases

More...GeneCardsi		UPF3B
HGNCiHGNC:20439, UPF3B
HPAiENSG00000125351, Low tissue specificity
MalaCardsiUPF3B
MIMi300298, gene
300676, phenotype
neXtProtiNX_Q9BZI7
OpenTargetsiENSG00000125351
Orphaneti323, NON RARE IN EUROPE: FG syndrome phenotypic spectrum
776, X-linked intellectual disability with marfanoid habitus
777, X-linked non-syndromic intellectual disability
PharmGKBiPA128394708
VEuPathDBiHostDB:ENSG00000125351.10

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1295, Eukaryota
GeneTreeiENSGT00390000017146
HOGENOMiCLU_041202_1_0_1
InParanoidiQ9BZI7
OMAiDRCPEKE
OrthoDBi737663at2759
PhylomeDBiQ9BZI7
TreeFamiTF316034

Enzyme and pathway databases

PathwayCommonsiQ9BZI7
ReactomeiR-HSA-159236, Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72163, mRNA Splicing - Major Pathway
R-HSA-72187, mRNA 3'-end processing
R-HSA-73856, RNA Polymerase II Transcription Termination
R-HSA-9010553, Regulation of expression of SLITs and ROBOs
R-HSA-975957, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
SIGNORiQ9BZI7

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		65109, 22 hits in 640 CRISPR screens
EvolutionaryTraceiQ9BZI7

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		UPF3B

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

More...GenomeRNAii		65109
PharosiQ9BZI7, Tbio

Protein Ontology

More...PROi		PR:Q9BZI7
RNActiQ9BZI7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000125351, Expressed in sural nerve and 221 other tissues
ExpressionAtlasiQ9BZI7, baseline and differential
GenevisibleiQ9BZI7, HS

Family and domain databases

CDDicd12728, RRM_like_Smg4_UPF3B, 1 hit
Gene3Di3.30.70.330, 1 hit
IDEALiIID00251
InterProiView protein in InterPro
IPR012677, Nucleotide-bd_a/b_plait_sf
IPR035979, RBD_domain_sf
IPR039722, Upf3
IPR005120, UPF3_dom
IPR034979, UPF3B_RRM-like
PANTHERiPTHR13112, PTHR13112, 1 hit
PfamiView protein in Pfam
PF03467, Smg4_UPF3, 1 hit
SUPFAMiSSF54928, SSF54928, 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 nameiREN3B_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: Q9BZI7
Secondary accession number(s): D3DWI3
, D3DWI4, Q0VAK8, Q9H1J0
<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: March 1, 2005
Last sequence update: June 1, 2001
Last modified: April 7, 2021
This is version 175 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, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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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