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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).
Plasma proteins
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
12
Cytoband
q13.3
Chromosome location (bp)
56712305 - 56731628
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Cardiac- and muscle-specific transcription factor. May act to regulate the expression of genes involved in the development of myotubes. Plays a critical role in ventricular cardiomyocyte expansion and regulates postnatal skeletal muscle growth and regeneration. Involved in the organized assembly of thick and thin filaments of myofibril sarcomeres (By similarity). [E9PAV3] Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites). May act as a specific coactivator for JUN, binding to DNA and stabilizing the interaction of JUN homodimers with target gene promoters. [Q13765] ...show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation [E9PAV3] Protein transport, Transcription, Transport [Q13765]
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0003231[cardiac ventricle development] GO:0003677[DNA binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005854[nascent polypeptide-associated complex] GO:0006412[translation] GO:0010664[negative regulation of striated muscle cell apoptotic process] GO:0015031[protein transport] GO:0042060[wound healing] GO:0043403[skeletal muscle tissue regeneration] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048633[positive regulation of skeletal muscle tissue growth] GO:0048742[regulation of skeletal muscle fiber development] GO:0061384[heart trabecula morphogenesis] GO:0070062[extracellular exosome] GO:1905551[negative regulation of protein localization to endoplasmic reticulum] GO:2000138[positive regulation of cell proliferation involved in heart morphogenesis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0003231[cardiac ventricle development] GO:0003677[DNA binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005854[nascent polypeptide-associated complex] GO:0006412[translation] GO:0010664[negative regulation of striated muscle cell apoptotic process] GO:0015031[protein transport] GO:0042060[wound healing] GO:0043403[skeletal muscle tissue regeneration] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048633[positive regulation of skeletal muscle tissue growth] GO:0048742[regulation of skeletal muscle fiber development] GO:0061384[heart trabecula morphogenesis] GO:0070062[extracellular exosome] GO:1905551[negative regulation of protein localization to endoplasmic reticulum] GO:2000138[positive regulation of cell proliferation involved in heart morphogenesis]
E9PAV3 [Direct mapping] Nascent polypeptide-associated complex subunit alpha, muscle-specific form
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0003231[cardiac ventricle development] GO:0003677[DNA binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005854[nascent polypeptide-associated complex] GO:0006412[translation] GO:0010664[negative regulation of striated muscle cell apoptotic process] GO:0015031[protein transport] GO:0042060[wound healing] GO:0043403[skeletal muscle tissue regeneration] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048633[positive regulation of skeletal muscle tissue growth] GO:0048742[regulation of skeletal muscle fiber development] GO:0061384[heart trabecula morphogenesis] GO:0070062[extracellular exosome] GO:1905551[negative regulation of protein localization to endoplasmic reticulum] GO:2000138[positive regulation of cell proliferation involved in heart morphogenesis]
E9PAV3 [Direct mapping] Nascent polypeptide-associated complex subunit alpha, muscle-specific form
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0003231[cardiac ventricle development] GO:0003677[DNA binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005854[nascent polypeptide-associated complex] GO:0006412[translation] GO:0010664[negative regulation of striated muscle cell apoptotic process] GO:0015031[protein transport] GO:0042060[wound healing] GO:0043403[skeletal muscle tissue regeneration] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048633[positive regulation of skeletal muscle tissue growth] GO:0048742[regulation of skeletal muscle fiber development] GO:0061384[heart trabecula morphogenesis] GO:0070062[extracellular exosome] GO:1905551[negative regulation of protein localization to endoplasmic reticulum] GO:2000138[positive regulation of cell proliferation involved in heart morphogenesis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0003231[cardiac ventricle development] GO:0003677[DNA binding] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005854[nascent polypeptide-associated complex] GO:0006412[translation] GO:0010664[negative regulation of striated muscle cell apoptotic process] GO:0015031[protein transport] GO:0042060[wound healing] GO:0043403[skeletal muscle tissue regeneration] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048633[positive regulation of skeletal muscle tissue growth] GO:0048742[regulation of skeletal muscle fiber development] GO:0061384[heart trabecula morphogenesis] GO:0070062[extracellular exosome] GO:1905551[negative regulation of protein localization to endoplasmic reticulum] GO:2000138[positive regulation of cell proliferation involved in heart morphogenesis]
The Human Protein Atlas project is funded
