GENERAL INFORMATIONi
Gene namei NOTCH1
Synonyms TAN1
Gene descriptioni Notch receptor 1
Protein classi Cancer-related genes
Disease related genes
Human disease related genes
Plasma proteins
Potential drug targets
Transporters
Predicted locationi Membrane
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome 9
Cytoband q34.3
Chromosome location (bp) 136494433 - 136546048
Number of transcriptsi 5
Ensembl ENSG00000148400 (version 109)
Entrez gene 4851
HGNC HGNC:7881
UniProt P46531 (UniProt - Evidence at protein level)
neXtProt NX_P46531
GeneCards NOTCH1
Antibodypedia NOTCH1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) 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. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4(+) and CD8(+) cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, functions as a receptor for neuronal DNER and is involved in the differentiation of Bergmann glia. Represses neuronal and myogenic differentiation. May play an essential role in postimplantation development, probably in some aspect of cell specification and/or differentiation. May be involved in mesoderm development, somite formation and neurogenesis. May enhance HIF1A function by sequestering HIF1AN away from HIF1A. Required for the THBS4 function in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury. Involved in determination of left/right symmetry by modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). show less
Molecular function (UniProt)i Activator, Developmental protein, Receptor
Biological process (UniProt)i Angiogenesis, Differentiation, Notch signaling pathway, Transcription, Transcription regulation
Ligand (UniProt)i Calcium, Metal-binding
Gene summary (Entrez)i 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 plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
NOTCH1-204
ENSP00000498587
ENST00000651671
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)
   DeepTMHMM predicted membrane proteins
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: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:0002085 [inhibition of neuroepithelial cell differentiation]
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: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 DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0006366 [transcription by RNA polymerase II]
GO:0006606 [protein import into nucleus]
GO:0006915 [apoptotic process]
GO:0006955 [immune response]
GO:0006959 [humoral immune response]
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:0008283 [cell population proliferation]
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:0009957 [epidermal cell fate specification]
GO:0009986 [cell surface]
GO:0010001 [glial cell differentiation]
GO:0010467 [gene expression]
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:0017156 [calcium-ion regulated exocytosis]
GO:0019899 [enzyme binding]
GO:0021515 [cell differentiation in spinal cord]
GO:0021915 [neural tube development]
GO:0030154 [cell differentiation]
GO:0030163 [protein catabolic process]
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:0032966 [negative regulation of collagen biosynthetic process]
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:0042670 [retinal cone cell differentiation]
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: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 DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0045955 [negative regulation of calcium ion-dependent exocytosis]
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:0050673 [epithelial cell proliferation]
GO:0050678 [regulation of epithelial cell proliferation]
GO:0050679 [positive regulation of epithelial cell proliferation]
GO:0050680 [negative 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:0060379 [cardiac muscle cell myoblast differentiation]
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:0061101 [neuroendocrine cell differentiation]
GO:0061314 [Notch signaling involved in heart development]
GO:0061384 [heart trabecula morphogenesis]
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:0071228 [cellular response to tumor cell]
GO:0071372 [cellular response to follicle-stimulating hormone stimulus]
GO:0071456 [cellular response to hypoxia]
GO:0071944 [cell periphery]
GO:0072017 [distal tubule development]
GO:0072044 [collecting duct development]
GO:0072091 [regulation of stem cell proliferation]
GO:0072144 [glomerular mesangial cell development]
GO:0072148 [epithelial cell fate commitment]
GO:0072538 [T-helper 17 type immune response]
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:0097400 [interleukin-17-mediated signaling pathway]
GO:0120163 [negative regulation of cold-induced thermogenesis]
GO:0140537 [transcription regulator activator activity]
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]
Show all
 2555 aa
272.5 kDa 		Yes 1
NOTCH1-208
ENSP00000505319
ENST00000680133
A0A7P0T8U6
[Direct mapping] Neurogenic locus notch homolog protein 1
Show all
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)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000139 [Golgi membrane]
GO:0001525 [angiogenesis]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005886 [plasma membrane]
GO:0006355 [regulation of DNA-templated transcription]
GO:0007219 [Notch signaling pathway]
GO:0007275 [multicellular organism development]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030154 [cell differentiation]
GO:0038023 [signaling receptor activity]
GO:0046872 [metal ion binding]
GO:0050793 [regulation of developmental process]
Show all
 2517 aa
268.3 kDa 		Yes 1
NOTCH1-209
ENSP00000505339
ENST00000680218
A0A7P0T8W1
[Direct mapping] Neurogenic locus notch homolog protein 1
Show all
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)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000139 [Golgi membrane]
GO:0001525 [angiogenesis]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005886 [plasma membrane]
GO:0006355 [regulation of DNA-templated transcription]
GO:0007219 [Notch signaling pathway]
GO:0007275 [multicellular organism development]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030154 [cell differentiation]
GO:0038023 [signaling receptor activity]
GO:0046872 [metal ion binding]
GO:0050793 [regulation of developmental process]
Show all
 2515 aa
268.1 kDa 		Yes 1
NOTCH1-210
ENSP00000506336
ENST00000680668
A0A7P0TB20
[Direct mapping] Neurogenic locus notch homolog protein 1
Show all
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)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000139 [Golgi membrane]
GO:0001525 [angiogenesis]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005886 [plasma membrane]
GO:0006355 [regulation of DNA-templated transcription]
GO:0007219 [Notch signaling pathway]
GO:0007275 [multicellular organism development]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030154 [cell differentiation]
GO:0038023 [signaling receptor activity]
GO:0046872 [metal ion binding]
GO:0050793 [regulation of developmental process]
Show all
 2517 aa
268.5 kDa 		Yes 1
NOTCH1-211
ENSP00000506033
ENST00000680778
A0A7P0TA56
[Direct mapping] Neurogenic locus notch homolog protein 1
Show all
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)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000139 [Golgi membrane]
GO:0001525 [angiogenesis]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005886 [plasma membrane]
GO:0006355 [regulation of DNA-templated transcription]
GO:0007219 [Notch signaling pathway]
GO:0007275 [multicellular organism development]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030154 [cell differentiation]
GO:0038023 [signaling receptor activity]
GO:0050793 [regulation of developmental process]
Show all
 1754 aa
188.1 kDa 		No 1

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