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Aliases for NOTCH1 Gene

Aliases for NOTCH1 Gene

  • Notch 1 2 3 4 5
  • Translocation-Associated Notch Protein TAN-1 3 4
  • TAN1 3 4
  • HN1 3 4
  • Notch (Drosophila) Homolog 1 (Translocation-Associated) 2
  • Notch Homolog 1, Translocation-Associated (Drosophila) 2
  • Notch Homolog 1, Translocation-Associated 3
  • Neurogenic Locus Notch Homolog Protein 1 3
  • AOVD1 3
  • AOS5 3

External Ids for NOTCH1 Gene

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

Entrez Gene Summary 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]

CIViC summary for NOTCH1 Gene

  • 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).

Gene Wiki entry for NOTCH1 Gene

Additional gene information for NOTCH1 Gene

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J136537 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 665.9 +2.5 2500 10.7 HDGF PKNOX1 CLOCK SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF213 ZNF207 NOTCH1 ENSG00000227512 INPP5E ANAPC2 NALT1 SEC16A ENTR1 C9orf163 SNHG7 SNAPC4
GH09J136563 Enhancer 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 13.4 -22.8 -22756 10.7 HDGF CLOCK FOXA2 MLX ARID4B NEUROD1 SIN3A YBX1 ZBTB7B IRF4 EXD3 ANAPC2 INPP5E SNHG7 ENTR1 QSOX2 SEC16A NOTCH1 SNAPC4 MAN1B1
GH09J136613 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -75.1 -75076 14.5 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 FOS DEK NOTCH1 FUT7 EGFL7 SEC16A ABCA2 CARD9 UAP1L1 LINC01451 LOC105376325
GH09J136549 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -6.1 -6057 4.5 HDGF GLIS2 ZNF416 FOS SP3 SMARCB1 ZNF623 ATF4 SMARCA4 NBN INPP5E SEC16A C9orf163 TMEM203 NOTCH1 NALT1 ENTR1 TMEM141 MIR4674 LINC01451
GH09J136524 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 7.3 +15.4 15350 11.2 HDGF PKNOX1 FOXA2 SIN3A FEZF1 GLI4 ZNF121 GLIS2 RUNX3 ZNF263 NALT1 ANAPC2 MAN1B1 SEC16A NDOR1 SNHG7 EXD3 ENTR1 INPP5E NOTCH1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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:
NOTCH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOTCH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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).

    Three dimensional structures from OCA and Proteopedia for NOTCH1 Gene

neXtProt entry 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

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

Suggested Antigen Peptide Sequences for NOTCH1 Gene

Graphical View of Domain Structure for InterPro Entry

P46531

UniProtKB/Swiss-Prot:

NOTC1_HUMAN :
  • Belongs to the NOTCH family.
Family:
  • Belongs to the NOTCH family.
genes like me logo Genes that share domains with NOTCH1: view

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

Phenotypes From GWAS Catalog for NOTCH1 Gene

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with NOTCH1: view
genes like me logo Genes that share phenotypes with NOTCH1: view

Human Phenotype Ontology for NOTCH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NOTCH1 Gene

MGI Knock Outs for NOTCH1:

Animal Model Products

Clone Products

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOTCH1 gene
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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NOTCH1 Gene

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
genes like me logo Genes that share ontologies with NOTCH1: view

Pathways & Interactions for NOTCH1 Gene

genes like me logo Genes that share pathways with NOTCH1: view

Pathways by source for NOTCH1 Gene

Gene Ontology (GO) - Biological Process for NOTCH1 Gene

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 --
genes like me logo Genes that share ontologies with NOTCH1: view

Drugs & Compounds for NOTCH1 Gene

(25) Drugs for NOTCH1 Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
PF-03084014 Pharma other γ-secretase inhibitor, Other 0
BMS-983970 Pharma 0
FLI-06 Pharma 0
LY3039478 Pharma Notch inhibitor, novel and potent 0

(9) Additional Compounds for NOTCH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NOTCH1: view

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 :

Unigene Clusters for NOTCH1 Gene

Notch 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NOTCH1 Gene

No ASD Table

Relevant External Links for NOTCH1 Gene

GeneLoc Exon Structure for
NOTCH1
ECgene alternative splicing isoforms for
NOTCH1

Expression for NOTCH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NOTCH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NOTCH1 Gene

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:

NOTCH1

SOURCE GeneReport for Unigene cluster for NOTCH1 Gene:

Hs.495473

mRNA 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
genes like me logo Genes that share expression patterns with NOTCH1: view

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.

Orthologs for NOTCH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOTCH1 34 33
  • 99.37 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NOTCH1 34 33
  • 88.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NOTCH1 34 33
  • 87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Notch1 33
  • 86.37 (n)
mouse
(Mus musculus)
Mammalia Notch1 16 34 33
  • 85.98 (n)
oppossum
(Monodelphis domestica)
Mammalia NOTCH1 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NOTCH1 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves NOTCH1 34 33
  • 79.79 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NOTCH1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia notch1 33
  • 74.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia notch1-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii notch1b 34 33
  • 71.1 (n)
OneToMany
notch1a 34 33
  • 70 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10327 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001015 33
  • 59.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta N 34 33
  • 55.85 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
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

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
genes like me logo Genes that share paralogs with NOTCH1: view

Variants for NOTCH1 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for NOTCH1 Gene

Variant ID Type Subtype PubMed ID
dgv1281e201 CNV deletion 23290073
dgv4173n106 CNV deletion 24896259
esv1111338 CNV insertion 17803354
esv1230007 CNV insertion 17803354
esv1303287 CNV insertion 17803354
esv1395696 CNV insertion 17803354
esv1396142 CNV insertion 17803354
esv2062576 CNV deletion 18987734
esv2677489 CNV deletion 23128226
esv2739363 CNV deletion 23290073
esv2739364 CNV deletion 23290073
esv2739365 CNV deletion 23290073
esv2739366 CNV deletion 23290073
esv2759720 CNV loss 17122850
esv27805 CNV gain+loss 19812545
esv30005 CNV loss 17803354
esv3442819 CNV duplication 20981092
esv3545638 CNV deletion 23714750
esv3573426 CNV loss 25503493
esv3573427 CNV loss 25503493
esv3573428 CNV loss 25503493
esv3622009 CNV loss 21293372
esv3622010 CNV loss 21293372
esv4392 CNV loss 18987735
nsv1075694 CNV deletion 25765185
nsv1152420 CNV deletion 26484159
nsv1161916 CNV deletion 26073780
nsv1161917 CNV deletion 26073780
nsv416297 CNV deletion 16902084
nsv466673 CNV gain 19166990
nsv469918 CNV loss 18288195
nsv509334 CNV insertion 20534489
nsv513003 CNV insertion 21212237
nsv522574 CNV loss 19592680
nsv615964 CNV loss 21841781
nsv615965 CNV loss 21841781
nsv615966 CNV gain 21841781
nsv615967 CNV loss 21841781
nsv6767 CNV insertion 18451855
nsv6768 CNV insertion 18451855
nsv825173 CNV gain 20364138
nsv8579 CNV gain 18304495
nsv951202 CNV deletion 24416366

Variation tolerance for NOTCH1 Gene

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

Human Gene Mutation Database (HGMD)
NOTCH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOTCH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOTCH1 Gene

Disorders for NOTCH1 Gene

MalaCards: The human disease database

(91) MalaCards diseases for NOTCH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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
genes like me logo Genes that share disorders with NOTCH1: view

No data available for Genatlas for NOTCH1 Gene

Publications for NOTCH1 Gene

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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