We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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.
Cancer-related genes Disease related genes Human disease related genes Plasma proteins Potential drug targets Transporters
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
9
Cytoband
q34.3
Chromosome location (bp)
136494433 - 136546048
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).
In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
NOTCH1-204
NOTCH1-208
NOTCH1-209
NOTCH1-210
NOTCH1-211
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.
P46531 [Direct mapping] Neurogenic locus notch homolog protein 1 Notch 1 extracellular truncation Notch 1 intracellular domain
Show all
Transporters 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 Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Translocations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the breast and female genital organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II] GO:0000139 [Golgi membrane] GO:0001525 [angiogenesis] GO:0001669 [acrosomal vesicle] GO:0001701 [in utero embryonic development] GO:0001708 [cell fate specification] GO:0001837 [epithelial to mesenchymal transition] GO:0001889 [liver development] GO:0001947 [heart looping] GO:0002040 [sprouting angiogenesis] GO:0002052 [positive regulation of neuroblast proliferation] GO:0002193 [MAML1-RBP-Jkappa- ICN1 complex] GO:0002437 [inflammatory response to antigenic stimulus] GO:0003151 [outflow tract morphogenesis] GO:0003157 [endocardium development] GO:0003160 [endocardium morphogenesis] GO:0003162 [atrioventricular node development] GO:0003169 [coronary vein morphogenesis] GO:0003180 [aortic valve morphogenesis] GO:0003181 [atrioventricular valve morphogenesis] GO:0003182 [coronary sinus valve morphogenesis] GO:0003184 [pulmonary valve morphogenesis] GO:0003192 [mitral valve formation] GO:0003197 [endocardial cushion development] GO:0003198 [epithelial to mesenchymal transition involved in endocardial cushion formation] GO:0003203 [endocardial cushion morphogenesis] GO:0003207 [cardiac chamber formation] GO:0003208 [cardiac ventricle morphogenesis] GO:0003209 [cardiac atrium morphogenesis] GO:0003213 [cardiac right atrium morphogenesis] GO:0003214 [cardiac left ventricle morphogenesis] GO:0003219 [cardiac right ventricle formation] GO:0003222 [ventricular trabecula myocardium morphogenesis] GO:0003241 [growth involved in heart morphogenesis] GO:0003252 [negative regulation of cell proliferation involved in heart valve morphogenesis] GO:0003256 [regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation] GO:0003264 [regulation of cardioblast proliferation] GO:0003270 [Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation] GO:0003273 [cell migration involved in endocardial cushion formation] GO:0003332 [negative regulation of extracellular matrix constituent secretion] GO:0003344 [pericardium morphogenesis] GO:0003682 [chromatin binding] GO:0003713 [transcription coactivator activity] GO:0004857 [enzyme inhibitor activity] GO:0004888 [transmembrane signaling receptor activity] GO:0005112 [Notch binding] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0005794 [Golgi apparatus] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0005912 [adherens junction] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0006955 [immune response] GO:0006959 [humoral immune response] GO:0007050 [cell cycle arrest] GO:0007219 [Notch signaling pathway] GO:0007221 [positive regulation of transcription of Notch receptor target] GO:0007275 [multicellular organism development] GO:0007283 [spermatogenesis] GO:0007368 [determination of left/right symmetry] GO:0007386 [compartment pattern specification] GO:0007409 [axonogenesis] GO:0007411 [axon guidance] GO:0007420 [brain development] GO:0007440 [foregut morphogenesis] GO:0007492 [endoderm development] GO:0007507 [heart development] GO:0008284 [positive regulation of cell population proliferation] GO:0008285 [negative regulation of cell population proliferation] GO:0008544 [epidermis development] GO:0008593 [regulation of Notch signaling pathway] GO:0009912 [auditory receptor cell fate commitment] GO:0009986 [cell surface] GO:0010001 [glial cell differentiation] GO:0010468 [regulation of gene expression] GO:0010614 [negative regulation of cardiac muscle hypertrophy] GO:0010628 [positive regulation of gene expression] GO:0010629 [negative regulation of gene expression] GO:0010718 [positive regulation of epithelial to mesenchymal transition] GO:0010812 [negative regulation of cell-substrate adhesion] GO:0010832 [negative regulation of myotube differentiation] GO:0014031 [mesenchymal cell development] GO:0014807 [regulation of somitogenesis] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016324 [apical plasma membrane] GO:0019899 [enzyme binding] GO:0021515 [cell differentiation in spinal cord] GO:0021915 [neural tube development] GO:0030154 [cell differentiation] GO:0030182 [neuron differentiation] GO:0030216 [keratinocyte differentiation] GO:0030279 [negative regulation of ossification] GO:0030324 [lung development] GO:0030326 [embryonic limb morphogenesis] GO:0030334 [regulation of cell migration] GO:0030335 [positive regulation of cell migration] GO:0030513 [positive regulation of BMP signaling pathway] GO:0030514 [negative regulation of BMP signaling pathway] GO:0030900 [forebrain development] GO:0031069 [hair follicle morphogenesis] GO:0031100 [animal organ regeneration] GO:0031410 [cytoplasmic vesicle] GO:0031490 [chromatin DNA binding] GO:0031960 [response to corticosteroid] GO:0032495 [response to muramyl dipeptide] GO:0032496 [response to lipopolysaccharide] GO:0035116 [embryonic hindlimb morphogenesis] GO:0035148 [tube formation] GO:0035914 [skeletal muscle cell differentiation] GO:0035924 [cellular response to vascular endothelial growth factor stimulus] GO:0038023 [signaling receptor activity] GO:0042127 [regulation of cell population proliferation] GO:0042246 [tissue regeneration] GO:0042802 [identical protein binding] GO:0043065 [positive regulation of apoptotic process] GO:0043086 [negative regulation of catalytic activity] GO:0043235 [receptor complex] GO:0045070 [positive regulation of viral genome replication] GO:0045165 [cell fate commitment] GO:0045596 [negative regulation of cell differentiation] GO:0045603 [positive regulation of endothelial cell differentiation] GO:0045607 [regulation of inner ear auditory receptor cell differentiation] GO:0045608 [negative regulation of inner ear auditory receptor cell differentiation] GO:0045618 [positive regulation of keratinocyte differentiation] GO:0045662 [negative regulation of myoblast differentiation] GO:0045665 [negative regulation of neuron differentiation] GO:0045668 [negative regulation of osteoblast differentiation] GO:0045687 [positive regulation of glial cell differentiation] GO:0045747 [positive regulation of Notch signaling pathway] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0045955 [negative regulation of calcium ion-dependent exocytosis] GO:0045967 [negative regulation of growth rate] GO:0046427 [positive regulation of receptor signaling pathway via JAK-STAT] GO:0046533 [negative regulation of photoreceptor cell differentiation] GO:0046579 [positive regulation of Ras protein signal transduction] GO:0046872 [metal ion binding] GO:0048103 [somatic stem cell division] GO:0048663 [neuron fate commitment] GO:0048708 [astrocyte differentiation] GO:0048709 [oligodendrocyte differentiation] GO:0048711 [positive regulation of astrocyte differentiation] GO:0048715 [negative regulation of oligodendrocyte differentiation] GO:0048754 [branching morphogenesis of an epithelial tube] GO:0048845 [venous blood vessel morphogenesis] GO:0048873 [homeostasis of number of cells within a tissue] GO:0050678 [regulation of epithelial cell proliferation] GO:0050679 [positive regulation of epithelial cell proliferation] GO:0050767 [regulation of neurogenesis] GO:0050768 [negative regulation of neurogenesis] GO:0050793 [regulation of developmental process] GO:0055008 [cardiac muscle tissue morphogenesis] GO:0060038 [cardiac muscle cell proliferation] GO:0060045 [positive regulation of cardiac muscle cell proliferation] GO:0060253 [negative regulation of glial cell proliferation] GO:0060271 [cilium assembly] GO:0060317 [cardiac epithelial to mesenchymal transition] GO:0060354 [negative regulation of cell adhesion molecule production] GO:0060411 [cardiac septum morphogenesis] GO:0060412 [ventricular septum morphogenesis] GO:0060528 [secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development] GO:0060548 [negative regulation of cell death] GO:0060740 [prostate gland epithelium morphogenesis] GO:0060768 [regulation of epithelial cell proliferation involved in prostate gland development] GO:0060842 [arterial endothelial cell differentiation] GO:0060843 [venous endothelial cell differentiation] GO:0060948 [cardiac vascular smooth muscle cell development] GO:0060956 [endocardial cell differentiation] GO:0060979 [vasculogenesis involved in coronary vascular morphogenesis] GO:0060982 [coronary artery morphogenesis] GO:0061314 [Notch signaling involved in heart development] GO:0061384 [heart trabecula morphogenesis] GO:0061419 [positive regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0062043 [positive regulation of cardiac epithelial to mesenchymal transition] GO:0070168 [negative regulation of biomineral tissue development] GO:0070374 [positive regulation of ERK1 and ERK2 cascade] GO:0070986 [left/right axis specification] GO:0071372 [cellular response to follicle-stimulating hormone stimulus] GO:0071944 [cell periphery] GO:0072017 [distal tubule development] GO:0072044 [collecting duct development] GO:0072144 [glomerular mesangial cell development] GO:0090051 [negative regulation of cell migration involved in sprouting angiogenesis] GO:0090090 [negative regulation of canonical Wnt signaling pathway] GO:0097150 [neuronal stem cell population maintenance] GO:0120163 [negative regulation of cold-induced thermogenesis] GO:1901201 [regulation of extracellular matrix assembly] GO:1902263 [apoptotic process involved in embryonic digit morphogenesis] GO:1902339 [positive regulation of apoptotic process involved in morphogenesis] GO:1903849 [positive regulation of aorta morphogenesis] GO:2000048 [negative regulation of cell-cell adhesion mediated by cadherin] GO:2000737 [negative regulation of stem cell differentiation] GO:2000811 [negative regulation of anoikis] GO:2000974 [negative regulation of pro-B cell differentiation] GO:2001027 [negative regulation of endothelial cell chemotaxis]
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 Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the breast and female genital organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0007219 [Notch signaling pathway] GO:0007275 [multicellular organism development] GO:0016021 [integral component of membrane] GO:0030154 [cell differentiation] GO:0038023 [signaling receptor activity] GO:0050793 [regulation of developmental process]
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 Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the breast and female genital organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0007219 [Notch signaling pathway] GO:0007275 [multicellular organism development] GO:0016021 [integral component of membrane] GO:0030154 [cell differentiation] GO:0038023 [signaling receptor activity] GO:0050793 [regulation of developmental process]
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 Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the breast and female genital organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0007219 [Notch signaling pathway] GO:0007275 [multicellular organism development] GO:0016021 [integral component of membrane] GO:0030154 [cell differentiation] GO:0038023 [signaling receptor activity] GO:0050793 [regulation of developmental process]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins 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 Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Missense Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the breast and female genital organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0006355 [regulation of transcription, DNA-templated] GO:0007219 [Notch signaling pathway] GO:0007275 [multicellular organism development] GO:0016021 [integral component of membrane] GO:0030154 [cell differentiation] GO:0038023 [signaling receptor activity] GO:0050793 [regulation of developmental process]