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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
3
Cytoband
p14.3
Chromosome location (bp)
57755450 - 57930003
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May play a role during myoblast fusion....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 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.
Q14BN4 [Direct mapping] Sarcolemmal membrane-associated protein
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Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM 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:0005515[protein binding] GO:0005737[cytoplasm] GO:0005790[smooth endoplasmic reticulum] GO:0005815[microtubule organizing center] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006936[muscle contraction] GO:0016020[membrane] GO:0042383[sarcolemma] GO:0072659[protein localization to plasma membrane] GO:1900825[regulation of membrane depolarization during cardiac muscle cell action potential] GO:1902305[regulation of sodium ion transmembrane transport] GO:1905150[regulation of voltage-gated sodium channel activity]
Q14BN4 [Direct mapping] Sarcolemmal membrane-associated protein
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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)
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GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005790[smooth endoplasmic reticulum] GO:0005815[microtubule organizing center] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006936[muscle contraction] GO:0016020[membrane] GO:0042383[sarcolemma] GO:0072659[protein localization to plasma membrane] GO:1900825[regulation of membrane depolarization during cardiac muscle cell action potential] GO:1902305[regulation of sodium ion transmembrane transport] GO:1905150[regulation of voltage-gated sodium channel activity]
Q14BN4 [Direct mapping] Sarcolemmal membrane-associated protein
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Phobius predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005790[smooth endoplasmic reticulum] GO:0005815[microtubule organizing center] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006936[muscle contraction] GO:0016020[membrane] GO:0042383[sarcolemma] GO:0072659[protein localization to plasma membrane] GO:1900825[regulation of membrane depolarization during cardiac muscle cell action potential] GO:1902305[regulation of sodium ion transmembrane transport] GO:1905150[regulation of voltage-gated sodium channel activity]
The Human Protein Atlas project is funded
