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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
4
Cytoband
q13.2
Chromosome location (bp)
67558727 - 67607337
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a positive feedback loop by increasing the activity of TEC....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0001784[phosphotyrosine residue binding] GO:0005068[transmembrane receptor protein tyrosine kinase adaptor activity] GO:0005157[macrophage colony-stimulating factor receptor binding] GO:0005515[protein binding] GO:0005543[phospholipid binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0009617[response to bacterium] GO:0010628[positive regulation of gene expression] GO:0010760[negative regulation of macrophage chemotaxis] GO:0019901[protein kinase binding] GO:0030296[protein tyrosine kinase activator activity] GO:0030674[protein-macromolecule adaptor activity] GO:0030971[receptor tyrosine kinase binding] GO:0032991[protein-containing complex] GO:0035591[signaling adaptor activity] GO:0042326[negative regulation of phosphorylation] GO:0043231[intracellular membrane-bounded organelle] GO:0050861[positive regulation of B cell receptor signaling pathway] GO:0060100[positive regulation of phagocytosis, engulfment] GO:0071222[cellular response to lipopolysaccharide] GO:1900028[negative regulation of ruffle assembly] GO:1902227[negative regulation of macrophage colony-stimulating factor signaling pathway] GO:1903980[positive regulation of microglial cell activation] GO:1904140[negative regulation of microglial cell migration] GO:1904151[positive regulation of microglial cell mediated cytotoxicity] GO:2000251[positive regulation of actin cytoskeleton reorganization]
The Human Protein Atlas project is funded
