The gene information section lists the gene name (HUGO Gene Nomenclature Committee (HGNC) name if available), any approved gene synonyms, Ensembl gene description, and the Entrez gene summary from the National Center for Biotechnology Information.
The chromosomal and cytoband location of the gene according to Ensembl is reported together with the Ensembl gene identifier and Ensembl database version. The Entrez gene identifier for the gene is also given. If any of the protein products of the gene is linked to a UniProt KB/SWISS-PROT entry, links to the UniProt and the neXtProt databases for these proteins are displayed.
Gene name
DUX4L3
Synonyms
Description
double homeobox 4 like 3 (HGNC Symbol)
Entrez gene summary
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 contains two homeoboxes; the repeat-array and ORF is conserved in other mammals. There was no evidence for transcription from standard cDNA libraries however RTPCR and in-vitro expression experiments indicate that the ORF is transcribed and 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 microsatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jul 2008]
The protein view displays protein features. The tabs at the top of the protein view section can be used to switch between the different splice variants encoded by this gene. The mouse over function displays additional data for the features in the protein view.
At the top of the protein view, the maximum percent sequence identity of the protein to all other proteins from other human genes is shown, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Common (purple) and unique (grey) regions between alternative processed transcripts from the same gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
The protein information section displays the alternative protein-coding transcripts (splice variants) encoded by this gene, according to the Ensembl database.
The ENSP identifier links to the Ensembl website for that protein, and the ENST identifier links to the Ensembl website for that transcript. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes to which this protein has been assigned 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 predicted transmembrane region(s) (according to MDM) are also reported.
