NOTCH1 Gene (Protein Coding)

Notch Receptor 1

GC09M136623
GIFtS:
52
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 intercellula... See more...

Aliases for NOTCH1 Gene

Aliases for NOTCH1 Gene

  • Notch Receptor 1 2 3 5
  • Notch 1 2 3 4
  • Translocation-Associated Notch Protein TAN-1 3 4
  • Neurogenic Locus Notch Homolog Protein 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
  • EC 3.4.21.68 51
  • EC 2.1.2.11 51
  • NOTCH1 5
  • 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
  • GC09M136549
  • GC09M136558
  • GC09M136562
  • GC09M136582
  • GC09M136497
  • GC09M136505
  • GC09M136513
  • GC09M136527
  • GC09M136538
  • GC09M136602

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 Receptor 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 Notch-mediated HES/HEY network and Signaling by GPCR. 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 Summary for NOTCH1 Gene

  • 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).

Gene Wiki entry for NOTCH1 Gene

Additional gene information for NOTCH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOTCH1 Gene

Genomics for NOTCH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NOTCH1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOTCH1

Top Transcription factor binding sites by QIAGEN in the NOTCH1 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for NOTCH1 Gene

Latest Assembly
chr9:136,494,433-136,546,048
(GRCh38/hg38)
Size:
51,616 bases
Orientation:
Minus strand

Previous Assembly
chr9:139,388,885-139,440,500
(GRCh37/hg19 by Entrez Gene)
Size:
51,616 bases
Orientation:
Minus strand

chr9:139,388,896-139,440,314
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for NOTCH1 Gene

Proteins for NOTCH1 Gene

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  • 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). The NOTCH1 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 CCN3 (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). Interacts (via NICD domain) with PRAG1 (By similarity). Forms a complex with PRAG1, N1ICD and MAML1, in a MAML1-dependent manner (By similarity). Interacts (via transmembrane region) with PSEN1; the interaction is direct (PubMed:30598546).

    Three dimensional structures from OCA and Proteopedia for NOTCH1 Gene

neXtProt entry for NOTCH1 Gene

Protein Expression for NOTCH1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for NOTCH1 Gene

P46531:
  • INTLGSF
  • CFNGGTC

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 (By similarity). 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) (PubMed:24226769). Following endocytosis, this fragment is then cleaved by one of the catalytic subunits of gamma-secretase (PSEN1 or PSEN2), to release a Notch-derived peptide containing the intracellular domain (NICD) from the membrane (PubMed:30598546).
  • Phosphorylated.
  • O-glycosylated on the EGF-like domains (PubMed:24226769). O-glucosylated at Ser-435 by KDELC1 and KDELC2 (PubMed:30127001). 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 Asn41, Ser65, Thr73, Thr116, Ser146, Thr194, Thr232, Thr311, Ser341, Thr349, Ser378, Ser435, Ser458, Thr466, Ser496, Ser534, Ser609, Thr617, Ser647, Thr692, Ser722, Ser759, Thr767, Ser784, Ser797, Thr805, Ser921, Ser951, Asn959, Thr997, Ser1027, Thr1035, Ser1065, Thr1159, Asn1179, Ser1189, Thr1197, Asn1241, Ser1273, Thr1362, Thr1379, Thr1402, Asn1489, Asn1587, and Thr1725
  • Ubiquitination at Lys1759
  • Modification sites at PhosphoSitePlus

Other Protein References for NOTCH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

Domains & Families for NOTCH1 Gene

Gene Families for NOTCH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for NOTCH1 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
  • LIN-12/notch repeat (LNR) signature
ProtoNet:

Suggested Antigen Peptide Sequences for NOTCH1 Gene

GenScript: Design optimal peptide antigens:
  • Truncated NOTCH1 (A7TW83_HUMAN)
  • Translocation-associated notch protein TAN-1 (NOTC1_HUMAN)
  • NOTCH1 protein (Q6IAD4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P46531

UniProtKB/Swiss-Prot:

NOTC1_HUMAN :
  • Interaction with PSEN1 causes partial unwinding of the transmembrane helix, facilitating access to the scissile peptide bond.
  • Belongs to the NOTCH family.
Domain:
  • Interaction with PSEN1 causes partial unwinding of the transmembrane helix, facilitating access to the scissile peptide bond.
Family:
  • Belongs to the NOTCH family.
genes like me logo Genes that share domains with NOTCH1: view

Function for NOTCH1 Gene

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  6. Cell Lines for research

Molecular function for NOTCH1 Gene

UniProtKB/Swiss-Prot Function:
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).
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

Enzyme Numbers (IUBMB) 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:0003682 chromatin binding IEA --
GO:0003713 transcription coactivator activity IEA,ISS --
GO:0004857 enzyme inhibitor activity IEA,ISS --
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005112 Notch binding 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 Models for research

miRNA for NOTCH1 Gene

miRTarBase miRNAs that target NOTCH1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOTCH1

No data available for 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
cytosol 5
golgi apparatus 4
cytoskeleton 3
mitochondrion 3
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

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

1 Sino Biological pathway for NOTCH1 Gene
2 GeneGo (Thomson Reuters) pathways for NOTCH1 Gene
  • Development Notch Signaling Pathway
  • Development NOTCH1-mediated pathway for NF-KB activity modulation
5 Qiagen pathways for NOTCH1 Gene
  • Epithelial Adherens Junctions
  • Molecular Mechanisms of Cancer
  • Notch Signaling
  • Pancreatic Adenocarcinoma
  • Presenilin-Mediated Signaling
3 Cell Signaling Technology pathways for NOTCH1 Gene
2 GeneTex pathways for NOTCH1 Gene

SIGNOR curated interactions for NOTCH1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

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 IEA,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

Products:

  1. Drug products for research

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PF-03084014 Pharma other γ-secretase inhibitor, Other 0
Calcium Nutra 6876
FLI-06 Pharma 0
LY3039478 Pharma Notch inhibitor, novel and potent 0
Z-Ile-Leu-aldehyde Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) ApexBio Compounds for NOTCH1 Gene

Compound Action Cas Number
FLI-06 313967-18-9
LY3039478 Notch inhibitor, novel and potent 1421438-81-4
PF-03084014 γ-secretase inhibitor 865773-15-5
Z-Ile-Leu-aldehyde 161710-10-7
genes like me logo Genes that share compounds with NOTCH1: view

Transcripts for NOTCH1 Gene

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mRNA/cDNA for NOTCH1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOTCH1

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

No ASD Table

Relevant External Links for NOTCH1 Gene

GeneLoc Exon Structure for
NOTCH1

Expression for NOTCH1 Gene

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  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for NOTCH1 Gene
mRNA expression by BioGPS for NOTCH1 GenemRNA expression by GTEx 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Skin(3.3)
  • Blood(3.3)
  • Intestine(3.3)
  • Heart(3.2)
  • Lung(3.1)
  • Muscle(3.1)
  • Bone marrow(3)
  • Pancreas(3)
  • Stomach(3)
  • Liver(3)
  • Kidney(2.9)
  • Lymph node(2.8)
  • Eye(2.8)
  • Spleen(2.8)
  • Gall bladder(2.6)
  • Bone(2.5)
  • Adrenal gland(2.5)
  • Thyroid gland(2.4)

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

Primer products for research

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 30 31
  • 99.37 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NOTCH1 30 31
  • 88.76 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NOTCH1 30 31
  • 87 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Notch1 30
  • 86.37 (n)
Mouse
(Mus musculus)
 Mammalia Notch1 30 17 31
  • 85.98 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia NOTCH1 31
  • 85 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia NOTCH1 31
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves NOTCH1 30 31
  • 79.79 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NOTCH1 31
  • 73 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia notch1 30
  • 74.17 (n)
African clawed frog
(Xenopus laevis)
 Amphibia notch1-A-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii notch1b 30 31
  • 71.1 (n)
 OneToMany
notch1a 30 31
  • 70 (a)
 OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10327 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001015 30
  • 59.11 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta N 30 31
  • 55.85 (n)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 44 (a)
 ManyToMany
Species where no ortholog for NOTCH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOTCH1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
409084 Likely Benign: Adams-Oliver syndrome 5 136,515,725(-) TG/CA
NM_017617.5(NOTCH1):c.1670-10_1670-9inv 		INTRON
804230 Likely Pathogenic: Hypoplastic left heart syndrome 136,502,089(-) C/T
NM_017617.5(NOTCH1):c.5385-1G>A 		SPLICE_ACCEPTOR
834677 Uncertain Significance: Adams-Oliver syndrome 5 136,515,301(-) G/A
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) 		MISSENSE
834872 Uncertain Significance: Adams-Oliver syndrome 5 136,513,519(-) G/C
NM_017617.5(NOTCH1):c.2226C>G (p.Asp742Glu) 		MISSENSE
835079 Uncertain Significance: Adams-Oliver syndrome 5 136,518,150(-) A/C
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NOTCH1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for NOTCH1 Gene

MalaCards: The human disease database

(125) MalaCards diseases for NOTCH1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
aortic valve disease 1
  • aovd1
adams-oliver syndrome 5
  • aos5
adams-oliver syndrome
  • adams oliver syndrome
tetralogy of fallot
  • tof
oliver syndrome
  • postaxial polydactyly and mental retardation
- 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for NOTCH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Family of Databases
(TGDB)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NOTCH1: view

No data available for Genatlas for NOTCH1 Gene

Publications for NOTCH1 Gene

  1. Mutations in NOTCH1 cause aortic valve disease. (PMID: 16025100) Garg V … Srivastava D (Nature 2005) 3 4 23 74
  2. Mutations in NOTCH1 cause Adams-Oliver syndrome. (PMID: 25132448) Stittrich AB … Patel MS (American journal of human genetics 2014) 3 4 74
  3. 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 23 41
  4. Genetic variation in healthy oldest-old. (PMID: 19680556) Halaschek-Wiener J … Brooks-Wilson AR (PloS one 2009) 3 23 41
  5. 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 41

ExternalLinks

View latest publications for NOTCH1 gene in Mastermind

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