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UniProtKB - Q9UBX2 (DUX4_HUMAN)

Entry version 152 (12 Aug 2020)
Sequence version 2 (01 Oct 2001)
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Protein

Double homeobox protein 4

Gene

DUX4

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

Transcription factor that is selectively and transiently expressed in cleavage-stage embryos (PubMed:28459457). Binds to double-stranded DNA elements with the consensus sequence 5'-TAATCTAATCA-3' (PubMed:28459457, PubMed:28459454, PubMed:29572508, PubMed:30540931, PubMed:30315230). Binds to chromatin containing histone H3 acetylated at 'Lys-27' (H3K27ac) and promotes deacetylation of H3K27ac. In parallel, binds to chromatin that lacks histone H3 acetylation at 'Lys-27' (H3K27ac) and recruits EP300 and CREBBP to promote acetylation of histone H3 at 'Lys-27' at new sites (PubMed:26951377). Involved in transcriptional regulation of numerous genes, primarily as transcriptional activator, but mediates also repression of a set of target genes (PubMed:17984056, PubMed:27378237, PubMed:26951377, PubMed:28459457, PubMed:28459454, PubMed:29618456, PubMed:30540931, PubMed:29572508). Promotes expression of ZSCAN4 and KDM4E, two proteins with essential roles during early embryogenesis (PubMed:27378237, PubMed:26951377, PubMed:28459457, PubMed:29618456). Heterologous expression in cultured embryonic stem cells mediates also transcription of HERVL retrotransposons and transcripts derived from ACRO1 and HSATII satellite repeats (PubMed:28459457). May activate expression of PITX1 (PubMed:17984056). May regulate microRNA (miRNA) expression (PubMed:24145033). Inappropriate expression can inhibit myogenesis and promote apoptosis (PubMed:26951377, PubMed:28935672, PubMed:29618456).11 Publications
Probably inactive as a transcriptional activator, due to the absence of the C-terminal region that is important for transcriptional activation. Can inhibit transcriptional activation mediated by isoform 1. Heterologous expression of isoform 2 has no deleterious effect on cell survival.1 Publication

Miscellaneous

DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on the short arms of all acrocentric chromosomes as well as on several other chromosomes.4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi19 – 78Homeobox 1PROSITE-ProRule annotation1 PublicationAdd BLAST60
DNA bindingi94 – 153Homeobox 2PROSITE-ProRule annotation1 PublicationAdd BLAST60

<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 functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9UBX2

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9UBX2

Protein family/group databases

Transport Classification Database

More...TCDBi		1.I.1.1.3, the nuclear pore complex (npc) family

<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:
Double homeobox protein 4Imported
Alternative name(s):
Double homeobox protein 10Imported
<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:DUX4Imported
Synonyms:DUX10
<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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000260596.5

Human Gene Nomenclature Database

More...HGNCi		HGNC:50800, DUX4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606009, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UBX2

<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

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

Facioscapulohumeral muscular dystrophy 1 (FSHD1)2 Publications
The gene represented in this entry is involved in disease pathogenesis. The disease is caused by deletion of an integral number of units of a 3.3-kb tandem repeats, termed D4Z4 macrosatellite, located on chromosome 4q35. In unaffected subjects, the D4Z4 array consists of 11-150 repeats, while in FSHD1 patients, the array is reduced to 1-10 repeats (PubMed:19320656). DUX4 is located in D4Z4 macrosatellite which is epigenetically repressed in somatic tissues. D4Z4 chromatin relaxation in FSHD1 results in inefficient epigenetic repression of DUX4 and a variegated pattern of DUX4 protein expression in a subset of skeletal muscle nuclei. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death.1 Publication
Disease descriptionA degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.
Related information in OMIM

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>Mutagenesisi20R → A: Decreased DNA binding affinity. 1 Publication1
Mutagenesisi23R → A: Mildly decreased DNA binding affinity. 1 Publication1
Mutagenesisi26W → A: No effect on DNA binding affinity. 1 Publication1
Mutagenesisi69N → A: Mildly decreased DNA binding affinity. 1 Publication1
Mutagenesisi95R → A: Decreased DNA binding affinity. 1 Publication1
Mutagenesisi95R → A: No effect on DNA binding affinity. 1 Publication1
Mutagenesisi96R → A: Decreased DNA binding affinity. 1 Publication1
Mutagenesisi97K → A: Decreased DNA binding affinity. 1 Publication1
Mutagenesisi98R → A: Decreased DNA binding affinity. 2 Publications1
Mutagenesisi143Q → E: Decreased DNA binding affinity. 1 Publication1
Mutagenesisi144N → A: Decreased DNA binding affinity. 1 Publication1
Mutagenesisi144N → E: Decreased DNA binding affinity. 1 Publication1
Mutagenesisi145R → E: Altered sequence specificity, with increased affinity for the DNA sequence 5'-TAATCTAATTA-3'. 1 Publication1
Mutagenesisi147A → S: Altered sequence specificity, with increased affinity for the DNA sequence 5'-TAATCTAATTA-3'. 1 Publication1
Mutagenesisi148R → A: Decreased DNA binding affinity. 1 Publication1
Mutagenesisi148R → E: Decreased DNA binding affinity. 1 Publication1
Mutagenesisi159 – 371Missing : Decreased activity as transcriptional activator. 1 PublicationAdd BLAST213
Mutagenesisi159 – 326Missing : No effect on activity as transcriptional activator. 1 PublicationAdd BLAST168
Mutagenesisi160 – 342Missing : No effect on activity as transcriptional activator. 1 PublicationAdd BLAST183
Mutagenesisi327 – 424Missing : Loss of interaction with EP300 and CREBBP. 1 PublicationAdd BLAST98
Mutagenesisi374 – 424Missing : Abolishes activity as transcriptional activator. 1 PublicationAdd BLAST51
Mutagenesisi405 – 424Missing : Reduced activity as transcriptional activator. 1 PublicationAdd BLAST20

Organism-specific databases

DisGeNET

More...DisGeNETi		100288687

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		DUX4

MalaCards human disease database

More...MalaCardsi		DUX4
MIMi158900, phenotype

Open Targets

More...OpenTargetsi		ENSG00000260596

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

More...Orphaneti		269, Facioscapulohumeral dystrophy

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UBX2, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DUX4

Domain mapping of disease mutations (DMDM)

More...DMDMi		74720085

<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_00002524131 – 424Double homeobox protein 4Add BLAST424

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UBX2

PeptideAtlas

More...PeptideAtlasi		Q9UBX2

PRoteomics IDEntifications database

More...PRIDEi		Q9UBX2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		84090

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UBX2

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

More...PhosphoSitePlusi		Q9UBX2

<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

Isoform 1: Does not seem to be expressed in normal muscle, but is detected in muscle of individuals with FSHD, and also in testis (at protein level) (PubMed:21060811, PubMed:17984056). Isoform 1: Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where it may be toxic to cells (PubMed:21060811, PubMed:17984056). Isoform 2: Detected in skeletal muscle, fibroblasts and testis from healthy individuals (PubMed:21060811).2 Publications

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Isoform 1: Detected in embryos at the 4-cell stage. Not detected in embryos at the 2-cell stage, or at the 8-cell stage (at protein level). Detected in embryos at the 4-cell stage. Not detected in embryos at the 2-cell stage, or at the 8-cell stage (PubMed:28459457). Detected in induced pluripotent (iPS) cells, but expression is suppressed upon differentiation to embryoid bodies. Isoform 2: Detected in embryoid bodies derived from induced pluripotent (iPS) cells, but not in the induced pluripotent (iPS) cells themselves (PubMed:21060811).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000260596, Expressed in sural nerve and 57 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UBX2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UBX2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000260596, Tissue enhanced (testis)

<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

Binds DNA as a monomer (PubMed:30322619, PubMed:30540931).

Interacts (via C-terminus) with EP300 and CREBBP (PubMed:26951377).

3 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		940343, 2 interactors

Protein interaction database and analysis system

More...IntActi		Q9UBX2, 283 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000485452

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9UBX2, 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

1424
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		Q9UBX2

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<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>Regioni327 – 424Required for interaction with EP300 and CREBBP, and for transcriptional activation of target genes1 PublicationAdd BLAST98
Regioni405 – 424Important for transcriptional activation of target genes1 PublicationAdd BLAST20

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 biasi16 – 98Arg-richAdd BLAST83
Compositional biasi156 – 245Ala-richAdd BLAST90

<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 two homeobox domains are arranged in a head-to-head orientation when bound to double-stranded DNA, each domain binding to one of the two DNA strands. Together, the homeobox domains can be considered to bind DNA with the consensus sequence 5'-TAATCTAATCA-3', but due to the head-to-head orientation of the DNA-bound domains, the first homeobox domain binds to the consensus sequence 5'-TAAT-3', and the second homeobox domain binds DNA on the opposite strand, with the consensus sequence 5'-TGAT-3' (PubMed:30322619, PubMed:30540931). Both homeobox domains confer nuclear targeting (PubMed:15709750).3 Publications
The C-terminal region is required for efficient activation of transcription from target promoters (PubMed:26951377, PubMed:29618456). It mediates interaction with EP300 and CREBBP (PubMed:26951377).2 Publications

<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 paired homeobox family.Curated

Keywords - Domaini

Homeobox, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0849, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154537

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_045070_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UBX2

Identification of Orthologs from Complete Genome Data

More...OMAi		ARQGQMQ

Database of Orthologous Groups

More...OrthoDBi		390511at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UBX2

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009057, Homeobox-like_sf
IPR001356, Homeobox_dom
IPR000047, HTH_motif

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046, Homeodomain, 2 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00031, HTHREPRESSR

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389, HOX, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50071, HOMEOBOX_2, 2 hits

<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
Isoform 1 (identifier: Q9UBX2-1) [UniParc]FASTAAdd to basket
Also known as: DUX4-fl1 Publication

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
MALPTPSDST LPAEARGRGR RRRLVWTPSQ SEALRACFER NPYPGIATRE 
        60         70         80         90        100
RLAQAIGIPE PRVQIWFQNE RSRQLRQHRR ESRPWPGRRG PPEGRRKRTA 
       110        120        130        140        150
VTGSQTALLL RAFEKDRFPG IAAREELARE TGLPESRIQI WFQNRRARHP 
       160        170        180        190        200
GQGGRAPAQA GGLCSAAPGG GHPAPSWVAF AHTGAWGTGL PAPHVPCAPG 
       210        220        230        240        250
ALPQGAFVSQ AARAAPALQP SQAAPAEGIS QPAPARGDFA YAAPAPPDGA 
       260        270        280        290        300
LSHPQAPRWP PHPGKSREDR DPQRDGLPGP CAVAQPGPAQ AGPQGQGVLA 
       310        320        330        340        350
PPTSQGSPWW GWGRGPQVAG AAWEPQAGAA PPPQPAPPDA SASARQGQMQ 
       360        370        380        390        400
GIPAPSQALQ EPAPWSALPC GLLLDELLAS PEFLQQAQPL LETEAPGELE 
       410        420 
ASEEAASLEA PLSEEEYRAL LEEL
Length:424
Mass (Da):44,940
Last modified:October 1, 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:iC51E9EE25C6661B8
GO
Isoform 2 (identifier: Q9UBX2-2) [UniParc]FASTAAdd to basket
Also known as: DUX4-s1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     160-160: A → V
     161-424: Missing.

Show »
Length:160
Mass (Da):18,372
Checksum:iD18D9B233C5DDB9E
GO

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_060075160A → V in isoform 2. 1
Alternative sequenceiVSP_060076161 – 424Missing in isoform 2. Add BLAST264

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
AF117653 Genomic DNA Translation: AAD54067.2
HQ266762 mRNA Translation: ADN68617.1
AF117653 Genomic DNA Translation: AAD54068.2
AY044051 Genomic DNA Translation: AAK91509.1
AC215524 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS77990.1 [Q9UBX2-1]

NCBI Reference Sequences

More...RefSeqi		NP_001280727.1, NM_001293798.2 [Q9UBX2-1]
NP_001292997.1, NM_001306068.2 [Q9UBX2-1]
XP_011529816.1, XM_011531514.2
XP_016885822.1, XM_017030333.1
XP_016885823.1, XM_017030334.1
XP_016885824.1, XM_017030335.1
XP_016885825.1, XM_017030336.1
XP_016885826.1, XM_017030337.1
XP_016885827.1, XM_017030338.1
XP_016885828.1, XM_017030339.1
XP_016885829.1, XM_017030340.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000565211; ENSP00000458065; ENSG00000260596 [Q9UBX2-1]
ENST00000569241; ENSP00000456539; ENSG00000260596 [Q9UBX2-1]
ENST00000570263; ENSP00000455112; ENSG00000260596 [Q9UBX2-2]
ENST00000616166; ENSP00000483555; ENSG00000260596 [Q9UBX2-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		100288687

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:100288687

UCSC genome browser

More...UCSCi		uc031tgs.2, human [Q9UBX2-1]
uc063bru.1, human

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
AF117653 Genomic DNA Translation: AAD54067.2
HQ266762 mRNA Translation: ADN68617.1
AF117653 Genomic DNA Translation: AAD54068.2
AY044051 Genomic DNA Translation: AAK91509.1
AC215524 Genomic DNA No translation available.
CCDSiCCDS77990.1 [Q9UBX2-1]
RefSeqiNP_001280727.1, NM_001293798.2 [Q9UBX2-1]
NP_001292997.1, NM_001306068.2 [Q9UBX2-1]
XP_011529816.1, XM_011531514.2
XP_016885822.1, XM_017030333.1
XP_016885823.1, XM_017030334.1
XP_016885824.1, XM_017030335.1
XP_016885825.1, XM_017030336.1
XP_016885826.1, XM_017030337.1
XP_016885827.1, XM_017030338.1
XP_016885828.1, XM_017030339.1
XP_016885829.1, XM_017030340.1

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
5Z2SX-ray1.50A100-150[»]
5Z2TX-ray2.62C/D94-153[»]
5Z6ZX-ray2.30A1-153[»]
5ZFWX-ray2.10A1-149[»]
5ZFYX-ray2.30A1-149[»]
5ZFZX-ray1.90A1-149[»]
6A8RX-ray1.60A/B94-153[»]
6DFYX-ray2.62C/D94-153[»]
6E8CX-ray2.12A17-155[»]
6U81X-ray2.34A19-150[»]
6U82X-ray3.21A/D17-150[»]
SMRiQ9UBX2
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi940343, 2 interactors
IntActiQ9UBX2, 283 interactors
STRINGi9606.ENSP00000485452

Protein family/group databases

TCDBi1.I.1.1.3, the nuclear pore complex (npc) family

PTM databases

iPTMnetiQ9UBX2
PhosphoSitePlusiQ9UBX2

Polymorphism and mutation databases

BioMutaiDUX4
DMDMi74720085

Proteomic databases

MassIVEiQ9UBX2
PeptideAtlasiQ9UBX2
PRIDEiQ9UBX2
ProteomicsDBi84090

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		73101, 267 antibodies

Genome annotation databases

EnsembliENST00000565211; ENSP00000458065; ENSG00000260596 [Q9UBX2-1]
ENST00000569241; ENSP00000456539; ENSG00000260596 [Q9UBX2-1]
ENST00000570263; ENSP00000455112; ENSG00000260596 [Q9UBX2-2]
ENST00000616166; ENSP00000483555; ENSG00000260596 [Q9UBX2-1]
GeneIDi100288687
KEGGihsa:100288687
UCSCiuc031tgs.2, human [Q9UBX2-1]
uc063bru.1, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		100288687
DisGeNETi100288687
EuPathDBiHostDB:ENSG00000260596.5

GeneCards: human genes, protein and diseases

More...GeneCardsi		DUX4
GeneReviewsiDUX4
HGNCiHGNC:50800, DUX4
HPAiENSG00000260596, Tissue enhanced (testis)
MalaCardsiDUX4
MIMi158900, phenotype
606009, gene
neXtProtiNX_Q9UBX2
OpenTargetsiENSG00000260596
Orphaneti269, Facioscapulohumeral dystrophy

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0849, Eukaryota
GeneTreeiENSGT00940000154537
HOGENOMiCLU_045070_0_0_1
InParanoidiQ9UBX2
OMAiARQGQMQ
OrthoDBi390511at2759
PhylomeDBiQ9UBX2

Enzyme and pathway databases

PathwayCommonsiQ9UBX2
SIGNORiQ9UBX2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		100288687, 1 hit in 17 CRISPR screens

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

More...ChiTaRSi		DUX4, human

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

More...GenomeRNAii		100288687
PharosiQ9UBX2, Tbio

Protein Ontology

More...PROi		PR:Q9UBX2
RNActiQ9UBX2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000260596, Expressed in sural nerve and 57 other tissues
ExpressionAtlasiQ9UBX2, baseline and differential
GenevisibleiQ9UBX2, HS

Family and domain databases

CDDicd00086, homeodomain, 2 hits
InterProiView protein in InterPro
IPR009057, Homeobox-like_sf
IPR001356, Homeobox_dom
IPR000047, HTH_motif
PfamiView protein in Pfam
PF00046, Homeodomain, 2 hits
PRINTSiPR00031, HTHREPRESSR
SMARTiView protein in SMART
SM00389, HOX, 2 hits
SUPFAMiSSF46689, SSF46689, 2 hits
PROSITEiView protein in PROSITE
PS50071, HOMEOBOX_2, 2 hits

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 nameiDUX4_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: Q9UBX2
Secondary accession number(s): E2JJS1
<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: October 17, 2006
Last sequence update: October 1, 2001
Last modified: August 12, 2020
This is version 152 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, Reference proteome

Documents

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