Aliases for NOTCH1 Gene
Aliases for NOTCH1 Gene
External Ids for NOTCH1 Gene
- HGNC: 7881
- Entrez Gene: 4851
- Ensembl: ENSG00000148400
- OMIM: 190198
- UniProtKB: P46531
Previous HGNC Symbols for NOTCH1 Gene
- TAN1
Previous GeneCards Identifiers for NOTCH1 Gene
- GC09M130458
- GC09M131078
- GC09M132829
- GC09M134746
- GC09M136664
- GC09M138508
- GC09M139388
- GC09M108848
- GC09M136495
- GC09M136497
- GC09M136505
- GC09M136513
Summaries for NOTCH1 Gene
-
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]
-
NOTCH1 is one of four known genes encoding the NOTCH family of proteins, a group of receptors involved in the Notch signaling pathway. NOTCH proteins are characterized by N-terminal EGF-like repeats followed by LNR domains which form a complex with ligands to prevent signaling. The Notch signaling pathway is involved in processes related to cell fate specification, differentiation, proliferation, and survival. Activation of Notch has been shown to be correlative with mammary tumorgenesis in mice and increased expression of Notch receptors has been observed in a variety of cancer types including cervical, colon, head and neck, lung, renal, pancreatic, leukemia, and breast cancer. A number of treatment modalities have been explored related to Notch inhibition especially in breast cancer with mixed results.
GeneCards Summary for NOTCH1 Gene
NOTCH1 (Notch 1) is a Protein Coding gene. Diseases associated with NOTCH1 include Adams-Oliver Syndrome 5 and Aortic Valve Disease 1. Among its related pathways are Gene Expression and Notch signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NOTCH2.
UniProtKB/Swiss-Prot for NOTCH1 Gene
-
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. 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).
Additional gene information for NOTCH1 Gene
- Monarch Initiative
- Search for NOTCH1 at DataMed
- Search for NOTCH1 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOTCH1 Gene
Genomics for NOTCH1 Gene
GeneHancer (GH) Regulatory Elements for NOTCH1 Gene
Promoters and enhancers for NOTCH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around NOTCH1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the NOTCH1 gene promoter:
-
- AP-1
- NF-kappaB1
- c-Jun
- ATF-2
- NF-kappaB
- c-Fos
Regulatory Element Products
Genomic Locations for NOTCH1 Gene
Genomic Locations for NOTCH1 Gene
- chr9:136,494,433-136,545,786
- (GRCh38/hg38)
- Size:
- 51,354 bases
- Orientation:
- Minus strand
- chr9:139,388,896-139,440,314
- (GRCh37/hg19)
- Size:
- 51,419 bases
- Orientation:
- Minus strand
Genomic View for NOTCH1 Gene
Genes around NOTCH1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q34.3 by Entrez Gene
- 9q34.3 by HGNC
- 9q34.3 by Ensembl
NOTCH1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NOTCH1 Gene
Proteins for NOTCH1 Gene
-
Protein details for NOTCH1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P46531-NOTC1_HUMAN
- Recommended name:
- Neurogenic locus notch homolog protein 1
- Protein Accession:
- P46531
- Q59ED8
- Q5SXM3
Protein attributes for NOTCH1 Gene
- Size:
- 2555 amino acids
- Molecular mass:
- 272505 Da
- Quaternary structure:
-
- Heterodimer of a C-terminal fragment N(TM) and an N-terminal fragment N(EC) which are probably linked by disulfide bonds. Interacts with DNER, DTX1, DTX2 and RBPJ/RBPSUH. Also interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH1 (PubMed:11101851, PubMed:12370315). Notch 1 intracellular domain interacts with SNW1; the interaction involves multimerized NOTCH1 NICD and is implicated in a formation of an intermediate preactivation complex which associates with DNA-bound CBF-1/RBPJ (PubMed:10713164). The activated membrane-bound form interacts with AAK1 which promotes NOTCH1 stabilization. Forms a trimeric complex with FBXW7 and SGK1. Interacts with HIF1AN. HIF1AN negatively regulates the function of notch intracellular domain (NICD), accelerating myogenic differentiation (PubMed:17573339). Interacts (via NICD) with SNAI1 (via zinc fingers); the interaction induces SNAI1 degradation via MDM2-mediated ubiquitination and inhibits SNAI1-induced cell invasion. Interacts (via NICD) with MDM2A. Interacts (via NICD) with BCL6; the interaction decreases MAML1 recruitment by NOTCH1 NICD on target genes DNA and inhibits NOTCH1 transcractivation activity. Interacts with THBS4 (By similarity). Interacts (via the EGF-like repeat region) with NOV (via CTCK domain) (PubMed:12050162). Interacts (via EGF-like domains) with DLL4 (via N-terminal DSL and MNNL domains) (By similarity). Interacts with ZMIZ1. Interacts (via NICD domain) with MEGF10 (via the cytoplasmic domain). Interacts with DLL1 and JAG1 (By similarity).
Protein Expression for NOTCH1 Gene
Post-translational modifications for NOTCH1 Gene
- Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form. Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by ADAM17 to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT). Following endocytosis, this fragment is then cleaved by presenilin dependent gamma-secretase to release a notch-derived peptide containing the intracellular domain (NICD) from the membrane.
- Phosphorylated.
- O-glycosylated on the EGF-like domains (PubMed:24226769). Contains both O-linked fucose and O-linked glucose in the EGF-like domains 11, 12 and 13, which are interacting with the residues on DLL4 (By similarity). O-linked glycosylation by GALNT11 is involved in determination of left/right symmetry: glycosylation promotes activation of NOTCH1, possibly by promoting cleavage by ADAM17, modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO) (PubMed:24226769). MFNG-, RFNG- and LFNG-mediated modification of O-fucose residues at specific EGF-like domains results in inhibition of its activation by JAG1 and enhancement of its activation by DLL1 via an increased binding to DLL1 (By similarity).
- Ubiquitinated. Undergoes Lys-29-linked polyubiquitination by ITCH; promotes the lysosomal degradation of non-activated internalized NOTCH1 (PubMed:18628966, PubMed:23886940). Monoubiquitination at Lys-1759 is required for activation by gamma-secretase cleavage, it promotes interaction with AAK1, which stabilizes it. Deubiquitination by EIF3F is necessary for nuclear import of activated Notch (PubMed:24226769).
- Hydroxylated at Asn-1955 by HIF1AN. Hydroxylated at Asn-2022 by HIF1AN (By similarity). Hydroxylation reduces affinity for HI1AN and may thus indirectly modulate negative regulation of NICD (By similarity).
- Glycosylation at isoforms=1725, isoforms=1587, Asn1489, isoforms=1402, isoforms=1362, isoforms=1273, Asn1241, isoforms=1197, isoforms=1189, isoforms=1179, Ser1065, isoforms=1035, isoforms=1027, Asn959, Ser951, isoforms=805, isoforms=797, Thr767, Ser759, isoforms=722, isoforms=647, Ser609, isoforms=534, Ser496, isoforms=466, Ser458, isoforms=378, isoforms=341, isoforms=232, Thr194, isoforms=146, Thr116, isoforms=73, Ser65, and Asn41
- Ubiquitination at Lys1759
- Modification sites at PhosphoSitePlus
Other Protein References for NOTCH1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for NOTCH1 (Notch-1)
- Novus Biologicals Antibodies for NOTCH1
- Invitrogen Antibodies for NOTCH1
- antibodies-online: Search results for 403 available Notch1 Antibodies ranked by validation data
- Compare Top Notch1 Antibodies
-
Recommended
- 166 WB Antibodies (anti-human)
- 45 FACS Antibodies (anti-human)
- 18 IHC (p) Antibodies (anti-human)
- 14 IHC Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 2 BCA Antibodies (anti-human)
- 2 IP Antibodies (anti-human)
- 2 ICFC Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 PLA Antibody (anti-human)
- 171 WB Antibodies (anti-mouse)
- 46 FACS Antibodies (anti-mouse)
- 5 IHC (p) Antibodies (anti-mouse)
- 2 BCA Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 1 IF Antibody (anti-mouse)
- 1 ICFC Antibody (anti-mouse)
- 1 PLA Antibody (anti-mouse)
- 93 WB Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 1 PLA Antibody (anti-rat)
- GeneTex Notch1 Antibody for NOTCH1
-
Santa Cruz Biotechnology (SCBT) Antibodies for NOTCH1
- Sino Biological Antibodies for NOTCH1
Protein Products
- R&D Systems Proteins and Enzymes for NOTCH1 (Notch-1)
-
OriGene Purified Proteins for NOTCH1
- Search Origene for MassSpec and Protein Over-expression Lysates for NOTCH1
- Origene Custom Protein Services for NOTCH1
- Sino Biological Recombinant Proteins for NOTCH1
- Sino Biological Cell Lysates for NOTCH1
- Search GeneTex for Proteins for NOTCH1
-
ProSci Proteins for NOTCH1
Assay Products
- R&D Systems ELISAs, Proteome Profiler Antibody Arrays, and other biochemical assays for NOTCH1 (Notch-1)
- Novus Biologicals ELISA Kits for NOTCH1
-
Boster Bio ELISA Kits for NOTCH1
No data available for DME Specific Peptides for NOTCH1 Gene
Domains & Families for NOTCH1 Gene
Gene Families for NOTCH1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted membrane proteins
Protein Domains for NOTCH1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for NOTCH1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P46531- Family:
-
- Belongs to the NOTCH family.
Function for NOTCH1 Gene
Molecular function for NOTCH1 Gene
- UniProtKB/Swiss-Prot Function:
- 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. 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).
- GENATLAS Biochemistry:
- Drosophila Notch homolog 1,mediating cell-cell interactions that specify cell fate during development,undergoing a first proteolytic cleavage by furin (PACE1) in the Golgi during trafficking of Notch to the cell surface,undergoing further cleavage by gamma secretase (see PSEN1) releasing an intracellular domain (NICD) which translocates to the nucleus and modulates transcription of target genes,involved in acute lymphocytic leukemia with translocation t(7;9)(q34;q34.3),expressed in CD34+ hematopoietic cells (see TAN1) and in the developing cochlear duct,inducing delay of hematopoietic differentiation and alteration of cell cycle kinetics
LifeMap Function Summary for NOTCH1 Gene
During embryonic development, NOTCH1 as signaling molecule is secreted from the following cells
- Epidermis
- Cartilage
- Primitive Streak
It affects the following cells:
- Lateral Plate Mesoderm
- Neural Tube
- Heart
- Kidney
- Eye
- Epidermis
- Primitive Streak
- Blood
- Cartilage
- Spinal Cord
- Paraxial Mesoderm
Phenotypes From GWAS Catalog for NOTCH1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001047 | core promoter binding | ISS,IEA | -- |
| GO:0001190 | transcriptional activator activity, RNA polymerase II transcription factor binding | IEA,ISS | -- |
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0003700 | DNA binding transcription factor activity | IEA | -- |
| GO:0004857 | enzyme inhibitor activity | ISS,IEA | -- |
Phenotypes for NOTCH1 Gene
- MGI mutant phenotypes for NOTCH1:
-
inferred from 17 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- pigmentation phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- liver/biliary system phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- hearing/vestibular/ear phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for NOTCH1:
-
- Decreased shRNA abundance (Z-score < -2)
- Synthetic lethal with cisplatin
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between BLM-/- and BLM+/+
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Reduced mammosphere formation
- Decreased shRNA abundance
- Decreased viability
- no effect
- shRNA abundance <= 50%
- Increased viability
Animal Models for NOTCH1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for NOTCH1
- Cyagen custom Knockout/knockin (KOKI) mouse models for NOTCH1
-
CRISPR Products
-
OriGene CRISPR knockouts for NOTCH1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NOTCH1
- genomics-online: gRNA clones - Search results for 70 available Notch1 gene related products
- Overview of 70 available Notch1 gene related products
- Applied Biological Materials CRISPR for NOTCH1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NOTCH1
- GenScript: Design CRISPR guide RNA sequences for NOTCH1
miRNA for NOTCH1 Gene
- miRTarBase miRNAs that target NOTCH1
-
- hsa-mir-27b-3p (MIRT001768)
- hsa-mir-24-3p (MIRT001773)
- hsa-mir-23b-3p (MIRT001775)
- hsa-mir-34a-5p (MIRT002875)
- hsa-mir-30a-5p (MIRT002876)
- hsa-mir-326 (MIRT004424)
- hsa-mir-129-5p (MIRT005412)
- hsa-mir-144-3p (MIRT005869)
- hsa-mir-449a (MIRT006446)
- hsa-mir-34b-3p (MIRT006458)
- hsa-mir-34c-5p (MIRT006459)
- hsa-mir-10b-5p (MIRT006924)
- hsa-mir-181a-5p (MIRT035538)
- hsa-mir-30b-5p (MIRT054706)
- hsa-mir-139-5p (MIRT054763)
- hsa-mir-30c-5p (MIRT437489)
- hsa-mir-30d-5p (MIRT437490)
- hsa-mir-30e-5p (MIRT437491)
- hsa-mir-200b-3p (MIRT437862)
- hsa-mir-200c-3p (MIRT438061)
- hsa-mir-5006-3p (MIRT655818)
- hsa-mir-4755-5p (MIRT655819)
- hsa-mir-519e-5p (MIRT655820)
- hsa-mir-515-5p (MIRT655821)
- hsa-mir-211-5p (MIRT655822)
- hsa-mir-204-5p (MIRT655823)
- hsa-mir-623 (MIRT655824)
- hsa-mir-5695 (MIRT655825)
- hsa-mir-519d-5p (MIRT655826)
- hsa-mir-5088-3p (MIRT655827)
- hsa-mir-335-3p (MIRT655828)
- hsa-mir-627-3p (MIRT655829)
- hsa-mir-6761-3p (MIRT655830)
- hsa-mir-4793-5p (MIRT655831)
- hsa-mir-5196-3p (MIRT655832)
- hsa-mir-1277-3p (MIRT655833)
- hsa-mir-363-3p (MIRT732119)
- hsa-mir-9-5p (MIRT732606)
- hsa-mir-410-3p (MIRT732780)
- hsa-mir-101-3p (MIRT733015)
- hsa-mir-935 (MIRT733129)
- hsa-mir-30a-3p (MIRT733646)
- hsa-mir-146a-5p (MIRT734249)
- mmu-mir-181b-5p (MIRT734517)
- hsa-mir-296-5p (MIRT734909)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NOTCH1
- Browse OriGene Inhibitory RNA Products For NOTCH1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOTCH1
- genomics-online: shRNA clones - Search results for 70 available Notch1 gene related products
- Overview of 70 available Notch1 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for NOTCH1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NOTCH1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for NOTCH1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NOTCH1
- Applied Biological Materials Clones for NOTCH1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for NOTCH1 (Notch-1)
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NOTCH1 Gene
Localization for NOTCH1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NOTCH1 Gene
- Cell membrane; Single-pass type I membrane protein.
- Notch 1 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus. Nuclear location may require MEGF10. {ECO:0000250 UniProtKB:Q01705}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| lysosome | 2 |
| endosome | 2 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0001669 | acrosomal vesicle | IEA | -- |
| GO:0002193 | MAML1-RBP-Jkappa- ICN1 complex | IDA | 16510869 |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005634 | nucleus | TAS | 10713164 |
Pathways & Interactions for NOTCH1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by NOTCH1 | ||
| 2 | Notch signaling pathway (KEGG) |
.30
|
|
| 3 | Pre-NOTCH Expression and Processing | ||
| 4 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
| 5 | HIV Life Cycle |
.45
|
|
Pathways by source for NOTCH1 Gene
1 Sino Biological pathway for NOTCH1 Gene
2 GeneTex pathways for NOTCH1 Gene
18 BioSystems pathways for NOTCH1 Gene
31 Reactome pathways for NOTCH1 Gene
9 KEGG pathways for NOTCH1 Gene
2 GeneGo (Thomson Reuters) pathways for NOTCH1 Gene
5 R&D Systems pathways for NOTCH1 Gene
5 Qiagen pathways for NOTCH1 Gene
3 Cell Signaling Technology pathways for NOTCH1 Gene
Interacting Proteins for NOTCH1 Gene
Selected Interacting proteins:
P46531-NOTC1_HUMAN
ENSP00000277541
for NOTCH1 Gene via
IID
UniProtKB
MINT
STRING
GPS-Prot Interaction Network for NOTCH1
SIGNOR curated interactions for NOTCH1 Gene
- Activates:
- Inactivates:
- Is activated by:
- Is inactivated by:
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
| GO:0001525 | angiogenesis | IEA | -- |
| GO:0001701 | in utero embryonic development | IEA | -- |
| GO:0001708 | cell fate specification | IEA | -- |
| GO:0001837 | epithelial to mesenchymal transition | IEA,ISS | -- |
Drugs & Compounds for NOTCH1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(6) ApexBio Compounds for NOTCH1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| BMS-983970 | 1584713-87-0 | |
| FLI-06 | 313967-18-9 | |
| LY3039478 | Notch inhibitor, novel and potent | 1421438-81-4 |
| LY-900009 | Potent Notch inhibitor | 209984-68-9 |
| PF-03084014 | γ-secretase inhibitor | 865773-15-5 |
| Z-Ile-Leu-aldehyde | 161710-10-7 |
Transcripts for NOTCH1 Gene
mRNA/cDNA for NOTCH1 Gene
- (2) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (207) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000277541 9306 bps (uc004chz.4)
- ENST00000491649 743 bps (uc064xco.1)
- ENST00000494783 652 bps (uc064xcn.1)
- ENST00000645828 3719 bps
- ENST00000646957 505 bps
CRISPR Products
-
OriGene CRISPR knockouts for NOTCH1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NOTCH1
- genomics-online: gRNA clones - Search results for 70 available Notch1 gene related products
- Overview of 70 available Notch1 gene related products
- Applied Biological Materials CRISPR for NOTCH1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NOTCH1
- GenScript: Design CRISPR guide RNA sequences for NOTCH1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NOTCH1
- Browse OriGene Inhibitory RNA Products For NOTCH1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOTCH1
- genomics-online: shRNA clones - Search results for 70 available Notch1 gene related products
- Overview of 70 available Notch1 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for NOTCH1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NOTCH1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for NOTCH1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NOTCH1
- Applied Biological Materials Clones for NOTCH1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for NOTCH1 (Notch-1)
Expression for NOTCH1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
- Fetal Matrix Cells Hair Follicle
- Dental Placode Cells Dental Placode
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Limbal Basal Epithelial Cells Limbus Epithelium
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
- Fetal Matrix Cells Hair Follicle
- Fetal Hair Shaft Cuticle Cells Hair Shaft
- Primary Hair Placode Cells Hair Follicle
- Fetal Cortex Cells Hair Shaft
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
- Dental Papilla Cells Dental Papilla
- Inner Enamel Epithelial Cells Dental Enamel
- Stellate Reticulum Cells Dental Core
- Outer Enamel Epithelial Cells Dental Enamel
-
Pancreas (Endocrine System)
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Duct Progenitor Cells Dorsal Pancreatic Bud
- Pancreatic Progenitor Cells Ventral Pancreatic Bud
- Pancreatic Progenitor Cells Dorsal Pancreatic Bud
- Duct Progenitor Cells Ventral Pancreatic Bud
- Neural Tube (Nervous System)
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Hematopoietic Bone Marrow
-
Eye (Sensory Organs)
- Limbal Basal Epithelial Cells Limbus Epithelium
- Late Retinal Progenitor Cells Retinal Neuroblastic Layer
- Early Retinal Progenitor Cells Retinal Neuroblastic Layer
- Lens
-
Paraxial Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm Cells Trunk Mesoderm
- Presomitic Mesoderm Cells Presomitic Mesoderm
- Paraxial Mesoderm Cells Paraxial Mesoderm
- Presomitic Mesoderm
-
Epidermis (Integumentary System)
- Granular Keratinocytes Stratified Epidermis
- Spinous Keratinocytes Stratified Epidermis
- Intermediate Keratinocytes Embryonic Epidermis
- Basal Keratinocytes Embryonic Epidermis
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
- Angioblasts Embryonic Blood Islands
- Angioblasts Proepicardium
-
Endothelium (Cardiovascular System)
- Arterial Endothelial Cells Dorsal Aorta
- Angioblasts Embryonic Blood Islands
- Angioblasts Proepicardium
- Brain (Nervous System)
-
Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm Cells Trunk Mesoderm
- Paraxial Mesoderm Cells Paraxial Mesoderm
- NULL (Uncategorized)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Primitive Streak (Early Embryonic Tissues)
- Primitive Streak Cells Primitive Streak
-
Placenta (Extraembryonic Tissues)
- Extravillous Cytotrophoblast Cells Extravillous Cytotrophoblast Layer
-
Somite (Muscoskeletal System)
- Presomitic Mesoderm Cells Presomitic Mesoderm
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
-
Heart (Cardiovascular System)
- Arterial Endothelial Cells Dorsal Aorta
- Intestine (Gastrointestinal Tract)
- Thymus (Hematopoietic System)
- Ovary (Reproductive System)
- Kidney (Urinary System)
- Cartilage (Muscoskeletal System)
This gene is overexpressed in Cerebrospinal fluid (26.5), Serum (17.0), Plasma (7.7), and Heart (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NOTCH1 Gene
NURSA nuclear receptor signaling pathways regulating expression of NOTCH1 Gene:
NOTCH1SOURCE GeneReport for Unigene cluster for NOTCH1 Gene:
Hs.495473mRNA Expression by UniProt/SwissProt for NOTCH1 Gene:
P46531-NOTC1_HUMAN
Tissue specificity:
In fetal tissues most abundant in spleen, brain stem and lung. Also present in most adult tissues where it is found mainly in lymphoid tissues.
Evidence on tissue expression from TISSUES for NOTCH1 Gene
- Nervous system(4.9)
- Blood(3.1)
- Bone(3.1)
- Muscle(3.1)
- Heart(3)
- Skin(3)
- Intestine(2.8)
- Lung(2.8)
- Bone marrow(2.7)
- Eye(2.6)
- Pancreas(2.5)
- Liver(2.4)
- Lymph node(2.4)
- Stomach(2.4)
- Kidney(2.3)
- Spleen(2.3)
- Thyroid gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NOTCH1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- nose
- outer ear
- scalp
- skull
Thorax:
- aorta
- breast
- chest wall
- heart
- heart valve
- lung
- rib
- rib cage
- sternum
Abdomen:
- abdominal wall
Pelvis:
- placenta
- uterus
Limb:
- ankle
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for NOTCH1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for NOTCH1 Gene
Orthologs for NOTCH1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NOTCH1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NOTCH1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NOTCH1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Notch1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Notch1 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | NOTCH1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | NOTCH1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NOTCH1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | NOTCH1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | notch1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | notch1-A-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | notch1b 34 33 |
|
OneToMany | |
| notch1a 34 33 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10327 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001015 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | N 34 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany |
- Species where no ortholog for NOTCH1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for NOTCH1 Gene
- ENSEMBL:
- Gene Tree for NOTCH1 (if available)
- TreeFam:
- Gene Tree for NOTCH1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NOTCH1: view image
Paralogs for NOTCH1 Gene
(9) SIMAP similar genes for NOTCH1 Gene using alignment to 8 proteins:
- NOTC1_HUMAN
- A7TW83_HUMAN
- H6VYP0_HUMAN
- H6VYP1_HUMAN
- H9BDU9_HUMAN
- H9CXX2_HUMAN
- L8EAX5_HUMAN
- Q6IAD4_HUMAN
Variants for NOTCH1 Gene
| SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1008389563 | likely-benign, Adams-Oliver syndrome 5 | 136,506,810(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs1020747496 | uncertain-significance, not specified, Adams-Oliver syndrome 5 | 136,496,844(-) | C/T | coding_sequence_variant, missense_variant | |
| rs1022510242 | uncertain-significance, Adams-Oliver syndrome 5 | 136,497,512(-) | G/A | coding_sequence_variant, missense_variant | |
| rs1036442909 | uncertain-significance, Adams-Oliver syndrome 5 | 136,500,657(-) | G/A/T | coding_sequence_variant, synonymous_variant | |
| rs1037034230 | likely-benign, Adams-Oliver syndrome 5 | 136,497,171(-) | G/A | coding_sequence_variant, synonymous_variant |
Residual Variation Intolerance Score:
2.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.87;
67.40% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NOTCH1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOTCH1 Gene
Disorders for NOTCH1 Gene
(91) MalaCards diseases for NOTCH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| adams-oliver syndrome 5 |
|
|
| aortic valve disease 1 |
|
|
| familial bicuspid aortic valve |
|
|
| adams-oliver syndrome |
|
|
| tetralogy of fallot |
|
|
Search NOTCH1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NOTC1_HUMAN- Aortic valve disease 1 (AOVD1) [MIM:109730]: A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. {ECO:0000269 PubMed:16025100}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Adams-Oliver syndrome 5 (AOS5) [MIM:616028]: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. {ECO:0000269 PubMed:25132448}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for NOTCH1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Tumor Gene Database
- (TGDB)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for NOTCH1 Gene
Publications for NOTCH1 Gene
- Prognostic implications of NOTCH1 and FBXW7 mutations in adult acute T-lymphoblastic leukemia. (PMID: 19794083) Baldus CD … Hofmann WK (Haematologica 2009) 3 22 44 58
- The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group. (PMID: 19340001) Larson Gedman A … Matherly LH (Leukemia 2009) 3 22 44 58
- FBXW7 and NOTCH1 mutations in childhood T cell acute lymphoblastic leukaemia and T cell non-Hodgkin lymphoma. (PMID: 19245433) Park MJ … Hayashi Y (British journal of haematology 2009) 3 22 44 58
- NOTCH1/FBXW7 mutation identifies a large subgroup with favorable outcome in adult T-cell acute lymphoblastic leukemia (T-ALL): a Group for Research on Adult Acute Lymphoblastic Leukemia (GRAALL) study. (PMID: 19109228) Asnafi V … Macintyre E (Blood 2009) 3 22 44 58
- NOTCH1 mutations in T-cell acute lymphoblastic leukemia: prognostic significance and implication in multifactorial leukemogenesis. (PMID: 16707600) Zhu YM … Chen SJ (Clinical cancer research : an official journal of the American Association for Cancer Research 2006) 3 22 44 58
Products for NOTCH1 Gene
- R&D Systems Antibodies for NOTCH1 (Notch-1)
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