NOTCH1 Gene
protein-coding GIFtS: 66
GC09M138508
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Notch homolog 1, translocation-associated (Drosophila)
(Previous name: Notch (Drosophila) homolog 1 (translocation-associated) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: TAN1)
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Aliases &
Descriptions
for NOTCH1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases |
|---|
| OTTHUMP00000022594 2 | | TAN1 2, 3, 5 | | hN1 2, 3 | | notch1 2 |
| | | Descriptions |
|---|
| Notch (Drosophila) homolog 1 (translocation-associated) 1 | | Notch 1 3 | | Notch homolog 1, translocation-associated (Drosophila) 2 | | Translocation-associated notch protein TAN-1 2, 3 | | neurogenic locus notch homolog protein 1 2 |
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Search outside databases for aliases for NOTCH1 genePrevious GC identifers: GC09M130458 GC09M131078 GC09M132829 GC09M134746 GC09M136664 |
Summaries
for NOTCH1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for NOTCH1:
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]
UniProtKB/Swiss-Prot: NOTC1_HUMAN, P46531Function: 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 RBP-J kappa and activates genes of
the enhancer of split locus. Affects the implementation of differentiation, proliferation and
apoptotic programs. May be important for normal lymphocyte function. In altered form, may
contribute to transformation or progression in some T-cell neoplasms. Involved in the maturation
of both CD4+ and CD8+ cells in the thymus. May be important for follicular differentiation and
possibly cell fate selection within the follicle. During cerebellar development, may function as a
receptor for neuronal DNER and may be involved in the differentiation of Bergmann glia (By
similarity)Gene Wiki entry for NOTCH1 |
Genomic Location
for NOTCH1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences)
About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
 Transcription factor binding sites upstream to the NOTCH1 gene 
Entrez Gene cytogenetic band: 9q34.3 Ensembl cytogenetic band: 9q34.3 HGNC cytogenetic band: 9q34.3NOTCH1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M138508:
(about GC identifiers)
Start:
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138,508,717 bp from pter |
End:
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138,560,135 bp from pter |
Size:
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51,419 bases |
Orientation:
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minus strand |
RefSeq DNA sequence:- NC_000009.10 NT_024000.16
| Proteins
for NOTCH1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: NOTC1_HUMAN, P46531 (See
protein sequence)Recommended Name: Neurogenic locus notch homolog protein 1 precursor Size: 2555 amino acids; 272505 Da
Subunit: 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 RBPSUH. Also interacts
with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH1
Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity)
Subcellular location: Notch 1 intracellular domain: Nucleus (By similarity). Note=Following
proteolytical processing NICD is translocated to the nucleus (By similarity)
PDB structures from  and Proteopedia  :1PB5 (3D)
1TOZ (3D)
1YYH (3D)
2F8X (3D)
2F8Y (3D)
2HE0 (3D)
2VJ3 (3D)
3ETO (3D)
Secondary accessions: Q59ED8 Q5SXM3Post-translational modifications:
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 TNF-alpha converting enzyme (TACE) to
yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT).
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)1
Phosphorylated (By similarity)1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_060087.3
ENSEMBL proteins: ENSP00000360765 ENSP00000277541
Human Recombinant Proteins  Browse Origene for full length recombinant human proteins expressed in human HEK293 cells
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for NOTCH1:
Assays for NOTCH1: | Protein
Domains/
Families
for NOTCH1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P46531
ProtoNet protein and cluster: P46531 4 Blocks protein families: IPB000152 Aspartic acid and asparagine hydroxylation site IPB000800 LIN-12/notch repeat (LNR) signature IPB001881 EGF-like calcium-binding IPB002110 Ankyrin repeat signature
UniProtKB/Swiss-Prot: NOTC1_HUMAN, P46531Similarity: Belongs to the NOTCH familySimilarity: Contains 5 ANK repeatsSimilarity: Contains 36 EGF-like domainsSimilarity: Contains 3 LNR (Lin/Notch) repeats | Gene Function
for NOTCH1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_017617
 Applied Biosystems Silencer® siRNAs for NOTCH1
 Sigma-Aldrich siRNA and siRNA Panels for NOTCH1
Sigma-Aldrich shRNA for NOTCH1
Explore Sigma-Aldrich super-pooled esiRNAs
OriGene GFP tagged cDNA clone in CMV expression vector: NM_017617
Myc/DDK tagged cDNA clone in CMV expression vector: NM_017617
untagged cDNA clones in CMV expression vector (see all 2): NM_017617
Primers:  Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
OriGene genome-wide validated SYBR primer pairs: NM_017617
UniProtKB/Swiss-Prot: NOTC1_HUMAN, P46531Function: 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 RBP-J kappa and activates genes of
the enhancer of split locus. Affects the implementation of differentiation, proliferation and
apoptotic programs. May be important for normal lymphocyte function. In altered form, may
contribute to transformation or progression in some T-cell neoplasms. Involved in the maturation
of both CD4+ and CD8+ cells in the thymus. May be important for follicular differentiation and
possibly cell fate selection within the follicle. During cerebellar development, may function as a
receptor for neuronal DNER and may be involved in the differentiation of Bergmann glia (By
similarity)Genatlas biochemistry entry for NOTCH1: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 kinetics15/19 MGI mutant phenotypes (inferred from 10 alleles ) (MGI details for Notch1) (see all 19
):
5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
): About this table | Pathways & Interactions
for NOTCH1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
2 Sigma-Aldrich "Your Favorite Gene" Pathways for NOTCH1 (Your Favorite Gene powered by Ingenuity)
Gene Network CentralTM Interacting Genes and Proteins Network for NOTCH1
5/130 Interacting proteins for NOTCH1 (P465311, 2 ENSP000003607653) via UniProtKB, MINT, and/or STRING (see all 130
)About this table
5/31 Gene Ontology (GO) biological process terms (links to tree view) (see all 31
): About this table
|
Drugs & Compounds
for NOTCH1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
| | Sigma-Aldrich Small Molecules for NOTCH1:
Inhibitor |
 Browse Tocris compounds for NOTCH1
10/12  Novoseek chemical compound relationships for NOTCH1 gene (see all 12
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| matrigel |
42.11 |
1 |
16510599 (1) |
| asparagine |
13.96 |
1 |
19245366 (1) |
| glycogen |
10.12 |
4 |
10541869 (1), 17234779 (1), 16941152 (1), 19030935 (1) |
| phosphatidylinositol |
5.77 |
1 |
16618740 (1) |
| proline |
5.60 |
3 |
16103065 (1), 17483057 (1) |
| threonine |
4.78 |
2 |
17901244 (1), 16282337 (1) |
| nitric oxide |
4.67 |
1 |
15887117 (1) |
| oxygen |
3.83 |
5 |
17179479 (1), 17804701 (1), 19143764 (1), 18924608 (1) |
| lipid |
1.68 |
4 |
18593473 (1), 18991739 (1), 12853432 (1), 16332675 (1) |
| calcium |
0.00 |
4 |
16025100 (1), 16492672 (1), 15713466 (1), 17595331 (1) |
About this table
|
Transcripts
for NOTCH1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene,
Expression Assays from Applied Biosystems)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_017617
Sigma-Aldrich siRNA and siRNA Panels for NOTCH1
Sigma-Aldrich shRNA for NOTCH1
Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer® siRNAs: NM_017617 REFSEQ mRNAs for NOTCH1 gene: NM_017617.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_017617
OriGene GFP tagged cDNA clone in CMV expression vector: NM_017617
Myc/DDK tagged cDNA clone in CMV expression vector: NM_017617
untagged cDNA clones in CMV expression vector (see all 2): NM_017617
Additional cDNA sequence: AB209873.1 AF308602.1 AK000012.1 BC013208.1 BC039147.1 BC046127.1 BC049843.1 BC063597.1 CR457221.1 M73980.1 3 DOTS entries: DT.116684 DT.101967676 DT.92324288 24/207 AceView cDNA sequences (see all 207
):BC039147 BX281173 F04063 AA278939 BP381398 CB216791 BC049843 BM709403 AA262635 AA480230 AI598175 AI362966 BM975575 BM680772 NM_017617 AI493630 BQ636034 BM549261 BU733339 AW503914 Z44046 CB306580 BI712771 F04067
 highest scoring ESTs for NOTCH1:AF308602 AL042127 M73980 R40977 AA010411 AA010666 AA011239 AA029464 AA029530 AA233439 Unigene Cluster for NOTCH1: Notch homolog 1, translocation-associated (Drosophila) Hs.495473 [show with all ESTs]Unigene Representative Sequence: NM_017617
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000371700
ENST00000277541
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Expression
for NOTCH1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| NOTCH1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for NOTCH1
1 / 2 / 3 7 probe-sets matching NOTCH1 gene Data from
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: AGGAACTGTA
SOURCE GeneReport for Unigene cluster: Hs.495473
UniProtKB/Swiss-Prot: NOTC1_HUMAN, P46531Tissue 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 |
Orthologs
for NOTCH1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for NOTCH1 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for NOTCH1
ENSEMBL Gene Tree for NOTCH1 | Paralogs
for NOTCH1(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for NOTCH1 gene
- NOTCH22 NOTCH32
|
SNPs/Variants
for NOTCH1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for NOTCH1 (up to first 250kb)
|
Disorders & Mutations
for NOTCH1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 190198 UniProtKB/Swiss-Prot: NOTC1_HUMAN, P46531
NOTCH1 truncation is associated with T-cell acute lymphoblastic leukemia Defects in NOTCH1 are a cause of aortic valve disease [MIM:109730]. The disorder consists
of an early developmental defect in the aortic valve and a later de-repression of calcium
deposition that causes progressive aortic valve disease. Calcification of the aortic valve is the
third leading cause of heart disease in adults. The incidence increases with age, and it is often
associated with a bicuspid aortic valve present in 1-2% of the population10/53 Novoseek disease relationships for NOTCH1 gene (see all 53
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| t-all |
89.57 |
206 |
15548998 (6), 16707600 (5), 18184405 (5), 18414037 (5) (see all 64) |
| leukemia t-cell |
62.87 |
13 |
16954387 (3), 17483057 (2), 19349467 (1), 15231576 (1) (see all 6) |
| leukemogenesis |
61.88 |
11 |
18497996 (2), 15058751 (1), 16707600 (1), 18688286 (1) (see all 8) |
| leukaemia lymphocytic |
58.90 |
14 |
17008890 (1), 8642337 (1), 11964309 (1), 19091404 (1) (see all 10) |
| alagille syndrome |
54.77 |
1 |
10075489 (1) |
| gastrointestinal carcinoid tumor |
53.72 |
1 |
16160079 (1) |
| leukemia |
45.42 |
37 |
18677410 (5), 18991739 (4), 17008890 (3), 16954387 (1) (see all 15) |
| tumors |
44.80 |
136 |
17874453 (5), 11964309 (4), 17344417 (4), 16096376 (3) (see all 61) |
| bicuspid aortic valve |
40.13 |
9 |
17662764 (4), 16729972 (1) |
| lymphoma lymphoblastic |
39.83 |
1 |
18663146 (1) |
About this table
Human Gene Mutation Database: NOTCH1
Human Genome Epidemiology Navigator: NOTCH1 (6 documents)
Tumor Gene Database: NOTCH1
|
Medical News
for NOTCH1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for NOTCH1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/533 PubMed articles for NOTCH1 gene (see all 533
):- TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. (PubMed id 1831692)2, 3, 4 Ellisen L.W.... Sklar J. (1991)
- Mutations in NOTCH1 cause aortic valve disease. (PubMed id 16025100)1, 3, 4 Garg V.... Srivastava D. (2005)
- Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes. (PubMed id 16530044)3, 4 Nam Y.... Blacklow S.C. (2006)
- High-resolution crystal structure of the human Notch 1 ankyrin domain. (PubMed id 16011479)3, 4 Ehebauer M.T....Blundell T.L. (2005)
- Structural and functional properties of the human notch-1 ligand binding region. (PubMed id 15576031)3, 4 Hambleton S.... Downing A.K. (2004)
- Nuclear magnetic resonance structure of a prototype Lin12-Notch repeat module from human Notch1. (PubMed id 12795601)3, 4 Vardar D.... Blacklow S.C. (2003)
- Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. (PubMed id 12370315)3, 4 Wu L.... Griffin J.D. (2002)
- MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors. (PubMed id 11101851)3, 4 Wu L....Griffin J.D. (2000)
- Human ligands of the Notch receptor. (PubMed id 10079256)3, 4 Gray G.E.... Artavanis-Tsakonas S. (1999)
- Human deltex is a conserved regulator of Notch signalling. (PubMed id 9590294)3, 4 Matsuno K.... Artavanis-Tsakonas S. (1998)
|
Search for NOTCH1
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NOTCH1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing NOTCH1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NOTCH1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| About This Section
| --
| Services
for NOTCH1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section
| 
Products for NOTCH1:
 | |
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| | | | | Search Tocris compounds for NOTCH1 |
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