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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Potential drug targets Transcription factors Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
4
Cytoband
q35.2
Chromosome location (bp)
190173774 - 190185942
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
[Isoform 1]: Transcription factor that is selectively and transiently expressed in cleavage-stage embryos 1. Binds to double-stranded DNA elements with the consensus sequence 5'- TAATCTAATCA-3' 2,3,4,5,6. 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 7. Involved in transcriptional regulation of numerous genes, primarily as transcriptional activator, but mediates also repression of a set of target genes 8,9,10,11,12,13,14,15. Promotes expression of ZSCAN4 and KDM4E, two proteins with essential roles during early embryogenesis 16,17,18,19. Heterologous expression in cultured embryonic stem cells mediates also transcription of HERVL retrotransposons and transcripts derived from ACRO1 and HSATII satellite repeats 20. May activate expression of PITX1 21. May regulate microRNA (miRNA) expression 22. Inappropriate expression can inhibit myogenesis and promote apoptosis 23,24,25....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
C3U3A0 [Target identity:100%; Query identity:100%] DUX4; Double homeodomain protein DUX4-fl
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Transporters Transporter channels and pores Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Potential drug targets Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0008285[negative regulation of cell population proliferation] GO:0031965[nuclear membrane] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0070317[negative regulation of G0 to G1 transition] GO:1990837[sequence-specific double-stranded DNA binding]
C3U3A0 [Target identity:100%; Query identity:100%] DUX4; Double homeodomain protein DUX4-fl
Show all
Transporters Transporter channels and pores Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Potential drug targets Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0008285[negative regulation of cell population proliferation] GO:0031965[nuclear membrane] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0070317[negative regulation of G0 to G1 transition] GO:1990837[sequence-specific double-stranded DNA binding]
Transporters Transporter channels and pores Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Potential drug targets Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0008285[negative regulation of cell population proliferation] GO:0031965[nuclear membrane] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0070317[negative regulation of G0 to G1 transition] GO:1990837[sequence-specific double-stranded DNA binding]
C3U3A0 [Target identity:100%; Query identity:100%] DUX4; Double homeodomain protein DUX4-fl
Show all
Transporters Transporter channels and pores Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Potential drug targets Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0008285[negative regulation of cell population proliferation] GO:0031965[nuclear membrane] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0070317[negative regulation of G0 to G1 transition] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
