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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).
Human disease related genes
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
6
Cytoband
p21.32
Chromosome location (bp)
32194843 - 32224067
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. May regulate branching morphogenesis in the developing vascular system (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Developmental protein, Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Human disease related genes Cancers Cancers of the breast and female genital organs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000139[Golgi membrane] GO:0001569[branching involved in blood vessel morphogenesis] GO:0001709[cell fate determination] GO:0001763[morphogenesis of a branching structure] GO:0001837[epithelial to mesenchymal transition] GO:0001886[endothelial cell morphogenesis] GO:0001944[vasculature development] GO:0005112[Notch binding] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006355[regulation of DNA-templated transcription] GO:0007219[Notch signaling pathway] GO:0007221[positive regulation of transcription of Notch receptor target] GO:0007275[multicellular organism development] GO:0009986[cell surface] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0030097[hemopoiesis] GO:0030154[cell differentiation] GO:0030879[mammary gland development] GO:0038023[signaling receptor activity] GO:0042060[wound healing] GO:0045446[endothelial cell differentiation] GO:0045596[negative regulation of cell differentiation] GO:0045602[negative regulation of endothelial cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0050793[regulation of developmental process] GO:0060354[negative regulation of cell adhesion molecule production] GO:2000048[negative regulation of cell-cell adhesion mediated by cadherin]
The Human Protein Atlas project is funded
