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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.
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
6
Cytoband
p22.3
Chromosome location (bp)
17281361 - 17293871
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Multifunctional RNA-binding protein involved in the regulation of pre-mRNA splicing, mRNA stability and mRNA translation important for cell fate decision and differentiation 1,2,3,4. Plays a major role in pre-mRNA alternative splicing regulation 5,6. Mediates preferentially muscle-specific exon inclusion in numerous mRNAs important for striated cardiac and skeletal muscle cell differentiation 7. Binds to intronic splicing enhancer (ISE) composed of stretches of GU-rich motifs localized in flanking intron of exon that will be included by alternative splicing (By similarity). Involved in embryonic stem cell (ESC) transition to cardiac cell differentiation by promoting pre-mRNA alternative splicing events of several pluripotency and/or differentiation genes 8. Plays a role in the regulation of mRNA stability 9,10,11,12. Binds to 3'-untranslated region (UTR) AU-rich elements in target transcripts, such as CDKN1A and MYOG, leading to maintain their stabilities 13,14. Involved in myogenic differentiation by regulating MYOG levels 15. Binds to multiple regions in the mRNA 3'-UTR of TP63 isoform 2, hence inducing its destabilization 16. Promotes also the destabilization of the CHRM2 mRNA via its binding to a region in the coding sequence 17. Plays a role in the regulation of mRNA translation 18. Mediates repression of p53/TP53 mRNA translation through its binding to U-rich element in the 3'-UTR, hence preventing EIF4E from binding to p53/TP53 mRNA and translation initiation 19. Binds to a huge amount of mRNAs 20. Required for embryonic heart development, sarcomer and M-band formation in striated muscles (By similarity). Together with RBM20, promotes the expression of short isoforms of PDLIM5/ENH in cardiomyocytes (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
RNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Enables mRNA 3'-UTR AU-rich region binding activity; mRNA CDS binding activity; and sequence-specific mRNA binding activity. Involved in several processes, including negative regulation of cytoplasmic translation; positive regulation of cell differentiation; and regulation of mRNA metabolic process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]...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.
Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000381[regulation of alternative mRNA splicing, via spliceosome] GO:0003676[nucleic acid binding] GO:0003723[RNA binding] GO:0003730[mRNA 3'-UTR binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006397[mRNA processing] GO:0006417[regulation of translation] GO:0006974[cellular response to DNA damage stimulus] GO:0008380[RNA splicing] GO:0010830[regulation of myotube differentiation] GO:0010831[positive regulation of myotube differentiation] GO:0030154[cell differentiation] GO:0035925[mRNA 3'-UTR AU-rich region binding] GO:0043488[regulation of mRNA stability] GO:0045663[positive regulation of myoblast differentiation] GO:0048255[mRNA stabilization] GO:0061157[mRNA destabilization] GO:0061158[3'-UTR-mediated mRNA destabilization] GO:0097157[pre-mRNA intronic binding] GO:1902811[positive regulation of skeletal muscle fiber differentiation] GO:1905870[positive regulation of 3'-UTR-mediated mRNA stabilization] GO:1990715[mRNA CDS binding] GO:1990825[sequence-specific mRNA binding] GO:2000738[positive regulation of stem cell differentiation] GO:2000766[negative regulation of cytoplasmic translation]
The Human Protein Atlas project is funded
