Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NOTCH1 Gene

Aliases for NOTCH1 Gene

  • Notch 1 2 3 4
  • TAN1 3 4 6
  • Translocation-Associated Notch Protein TAN-1 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
  • EC 3.4.21.68 63
  • EC 2.1.2.11 63
  • 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

Summaries for NOTCH1 Gene

Entrez Gene Summary for NOTCH1 Gene

  • This gene encodes a member of the Notch family. Members of this Type 1 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 family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development. [provided by RefSeq, Jul 2008]

GeneCards Summary for NOTCH1 Gene

NOTCH1 (Notch 1) is a Protein Coding gene. Diseases associated with NOTCH1 include aortic valve disease 1 and adams-oliver syndrome 5. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include sequence-specific 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOTCH1 Gene

Genomics for NOTCH1 Gene

Regulatory Elements for NOTCH1 Gene

Genomic Location for NOTCH1 Gene

Start:
136,494,444 bp from pter
End:
136,545,862 bp from pter
Size:
51,419 bases
Orientation:
Minus strand

Genomic View for NOTCH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. 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. 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. 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).

    Three dimensional structures from OCA and Proteopedia for NOTCH1 Gene

neXtProt entry for NOTCH1 Gene

Proteomics data for NOTCH1 Gene at MOPED

Selected DME Specific Peptides for NOTCH1 Gene

Post-translational modifications for NOTCH1 Gene

  • 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).
  • O-glycosylated on the EGF-like domains. Contains both O-linked fucose and O-linked glucose. 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).
  • Phosphorylated.
  • 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 (By similarity).
  • Ubiquitinated; undergoes Lys-29-linked polyubiquitination catalyzed by ITCH. 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.
  • Ubiquitination at Lys1759
  • Glycosylation at Asn41, Ser65, Thr73, Thr116, Ser146, Thr194, Thr232, Ser341, Ser378, Ser458, Thr466, Ser496, Ser534, Ser609, Ser647, Ser722, Ser759, Thr767, Ser797, Thr805, Ser951, Asn959, Ser1027, Thr1035, Ser1065, Asn1179, Ser1189, Thr1197, Asn1241, Ser1273, Thr1362, Thr1402, Asn1489, Asn1587, and Thr1725
  • Modification sites at PhosphoSitePlus

Other Protein References for NOTCH1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for NOTCH1 Gene

Gene Families for NOTCH1 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

Suggested Antigen Peptide Sequences for NOTCH1 Gene

Graphical View of Domain Structure for InterPro Entry

P46531

UniProtKB/Swiss-Prot:

NOTC1_HUMAN :
  • P46531
Domain:
  • Contains 36 EGF-like domains.
Family:
  • Belongs to the NOTCH family.
Similarity:
  • Contains 6 ANK repeats.
  • Contains 3 LNR (Lin/Notch) repeats.
genes like me logo Genes that share domains with NOTCH1: view

Function for NOTCH1 Gene

Molecular function for NOTCH1 Gene

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
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).

Enzyme Numbers (IUBMB) 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 --
GO:0001190 RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription ISS --
GO:0003682 chromatin binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0004857 enzyme inhibitor activity ISS --
genes like me logo Genes that share ontologies with NOTCH1: view
genes like me logo Genes that share phenotypes with NOTCH1: view

Animal Models for NOTCH1 Gene

MGI Knock Outs for NOTCH1:

No data available for Transcription Factor Targeting 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. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NOTCH1 Gene COMPARTMENTS Subcellular localization image for NOTCH1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
endoplasmic reticulum 4
extracellular 4
golgi apparatus 4
nucleus 4
cytoskeleton 2
endosome 2
lysosome 1
vacuole 1

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 for NOTCH1 Gene

SuperPathways for NOTCH1 Gene

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

Gene Ontology (GO) - Biological Process for NOTCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001701 in utero embryonic development IEA --
GO:0001708 cell fate specification IEA --
GO:0001837 epithelial to mesenchymal transition ISS --
GO:0001889 liver development IEA --
genes like me logo Genes that share ontologies with NOTCH1: view

Compounds for NOTCH1 Gene

(1) HMDB Compounds for NOTCH1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(24) Novoseek inferred chemical compound relationships for NOTCH1 Gene

Compound -log(P) Hits PubMed IDs
matrigel 37.9 1
vegf 30 25
asparagine 17.1 1
rapamycin 16.2 2
glycogen 9.93 4
genes like me logo Genes that share compounds with NOTCH1: view

Transcripts for NOTCH1 Gene

mRNA/cDNA for NOTCH1 Gene

Unigene Clusters for NOTCH1 Gene

Notch 1:
Representative Sequences:

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 for NOTCH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NOTCH1 Gene

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

No data available for mRNA differential expression in normal tissues 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 35
  • 99.37 (n)
  • 99.73 (a)
NOTCH1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NOTCH1 35
  • 88.76 (n)
  • 90.02 (a)
NOTCH1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NOTCH1 35
  • 87 (n)
  • 90.45 (a)
NOTCH1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Notch1 35
  • 85.98 (n)
  • 91.64 (a)
Notch1 16
Notch1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NOTCH1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NOTCH1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Notch1 35
  • 86.37 (n)
  • 91.52 (a)
chicken
(Gallus gallus)
Aves NOTCH1 35
  • 79.79 (n)
  • 81.23 (a)
NOTCH1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NOTCH1 36
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia notch1-A-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia notch1 35
  • 74.17 (n)
  • 76.08 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10327 35
zebrafish
(Danio rerio)
Actinopterygii notch1a 35
notch1a 36
  • 70 (a)
OneToMany
notch1b 35
  • 71.1 (n)
  • 72.64 (a)
notch1b 36
  • 71 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001015 35
  • 59.11 (n)
  • 50.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta N 35
  • 55.85 (n)
  • 49.64 (a)
N 36
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
ManyToMany
Species with no ortholog for NOTCH1:
  • 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)

Paralogs for NOTCH1 Gene

Paralogs for NOTCH1 Gene

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 Sequence Context AA Info Type MAF
rs6563 -- 136,494,732(+) GAGCC(A/G)AGTCT utr-variant-3-prime
rs10521 -- 136,503,255(+) GCCAC(A/G)TCGGT reference, synonymous-codon
rs1889046 -- 136,542,210(+) CTCCC(C/T)GGTGC intron-variant
rs2229968 untested, - 136,504,680(-) TGGAC(A/G)TCCGC missense, reference
rs2229970 -- 136,514,512(-) CTCAA(C/T)GGGTA reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv825173 CNV Gain 20364138
nsv894294 CNV Loss 21882294
dgv8383n71 CNV Loss 21882294
dgv8385n71 CNV Loss 21882294
dgv8386n71 CNV Loss 21882294
dgv8390n71 CNV Loss 21882294
dgv8392n71 CNV Loss 21882294
nsv482928 CNV Loss 15286789
dgv2426e1 CNV Complex 17122850
nsv469918 CNV Loss 18288195
dgv8394n71 CNV Loss 21882294
nsv894367 CNV Loss 21882294
dgv8395n71 CNV Loss 21882294
dgv8396n71 CNV Loss 21882294
dgv8397n71 CNV Gain 21882294
nsv894373 CNV Loss 21882294
nsv894376 CNV Gain+Loss 21882294
esv30005 CNV Loss 17803354
nsv894377 CNV Loss 21882294
dgv8398n71 CNV Gain 21882294
nsv894379 CNV Gain+Loss 21882294
dgv8399n71 CNV Loss 21882294
dgv8400n71 CNV Loss 21882294
nsv894386 CNV Loss 21882294
nsv894387 CNV Gain 21882294
nsv522574 CNV Loss 19592680
nsv8579 CNV Gain 18304495
nsv6767 CNV Insertion 18451855
nsv466673 CNV Gain 19166990
dgv8401n71 CNV Loss 21882294
dgv8402n71 CNV Loss 21882294
nsv509334 CNV Insertion 20534489
nsv513003 CNV Insertion 21212237
esv1395696 CNV Insertion 17803354
esv2739363 CNV Deletion 23290073
esv2062576 CNV Deletion 18987734
esv2739364 CNV Deletion 23290073
esv4392 CNV Deletion 18987735
nsv416297 CNV Loss 16902084
esv2677489 CNV Deletion 23128226
esv1396142 CNV Insertion 17803354
esv2739365 CNV Deletion 23290073
esv2739366 CNV Deletion 23290073
esv27805 CNV Gain+Loss 19812545
esv1303287 CNV Insertion 17803354
esv1111338 CNV Insertion 17803354
esv1230007 CNV Insertion 17803354
dgv1339e201 CNV Deletion 23290073
nsv6768 CNV Insertion 18451855

Relevant External Links for NOTCH1 Gene

HapMap Linkage Disequilibrium report
NOTCH1
Human Gene Mutation Database (HGMD)
NOTCH1

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

Disorders for NOTCH1 Gene

(1) OMIM Diseases for NOTCH1 Gene (190198)

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.

(57) Novoseek inferred disease relationships for NOTCH1 Gene

Disease -log(P) Hits PubMed IDs
t-all 90.7 164
leukemogenesis 61.7 12
leukemia t-cell 60.1 9
leukaemia lymphocytic 57.2 11
alagille syndrome 51.3 1

Relevant External Links for NOTCH1

Genetic Association Database (GAD)
NOTCH1
Human Genome Epidemiology (HuGE) Navigator
NOTCH1
Tumor Gene Database (TGDB):
NOTCH1
genes like me logo Genes that share disorders with NOTCH1: view

Publications for NOTCH1 Gene

  1. Mutations in NOTCH1 cause aortic valve disease. (PMID: 16025100) Garg V. … Srivastava D. (Nature 2005) 3 4 23
  2. NOTCH1 mutations in T-cell acute lymphoblastic leukemia: prognostic significance and implication in multifactorial leukemogenesis. (PMID: 16707600) Zhu Y.M. … Chen S.J. (Clin. Cancer Res. 2006) 3 23 48
  3. FBXW7 and NOTCH1 mutations in childhood T cell acute lymphoblastic leukaemia and T cell non-Hodgkin lymphoma. (PMID: 19245433) Park M.J. … Hayashi Y. (Br. J. Haematol. 2009) 3 23 48
  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 23 48
  5. 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 L.H. (Leukemia 2009) 3 23 48

Products for NOTCH1 Gene

Sources for NOTCH1 Gene

Back to Top

Content