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NOTCH1 notch receptor 1 [ Homo sapiens (human) ]

Gene ID: 4851, updated on 29-Mar-2020

Summary

Official Symbol
NOTCH1provided by HGNC
Official Full Name
notch receptor 1provided by HGNC
Primary source
HGNC:HGNC:7881
See related
Ensembl:ENSG00000148400 MIM:190198
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
hN1; AOS5; TAN1; AOVD1
Summary
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]
Expression
Ubiquitous expression in fat (RPKM 9.4), spleen (RPKM 9.4) and 25 other tissues See more
Orthologs

Genomic context

See NOTCH1 in Genome Data Viewer
Location:
9q34.3
Exon count:
34
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (136494433..136546048, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139388896..139440238, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene inositol polyphosphate-5-phosphatase E Neighboring gene SEC16 homolog A, endoplasmic reticulum export factor Neighboring gene chromosome 9 open reading frame 163 Neighboring gene microRNA 4673 Neighboring gene microRNA 4674 Neighboring gene NOTCH1 associated lncRNA in T cell acute lymphoblastic leukemia 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CD3/CD28-activated primary CD4+ T cells downregulates plasma membrane expression of NOTCH1 PubMed
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of NOTCH1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of notch 1 (NOTCH1) in human B cells PubMed
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with NOTCH1; predicted interaction to be relevant to viral egress at plasma membrane/extracellular matrix PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
Notch binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
chromatin DNA binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enzyme inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Notch signaling involved in heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Notch signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation IEA
Inferred from Electronic Annotation
more info
 
animal organ regeneration IEA
Inferred from Electronic Annotation
more info
 
aortic valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
aortic valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
aortic valve morphogenesis TAS
Traceable Author Statement
more info
PubMed 
apoptotic process involved in embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
arterial endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
astrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
atrioventricular node development IEA
Inferred from Electronic Annotation
more info
 
atrioventricular valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
auditory receptor cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
axonogenesis IEA
Inferred from Electronic Annotation
more info
 
branching morphogenesis of an epithelial tube IEA
Inferred from Electronic Annotation
more info
 
cardiac atrium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac chamber formation ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac left ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle tissue morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac right atrium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac right ventricle formation IEA
Inferred from Electronic Annotation
more info
 
cardiac septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac vascular smooth muscle cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
cell differentiation in spinal cord IEA
Inferred from Electronic Annotation
more info
 
cell fate specification IEA
Inferred from Electronic Annotation
more info
 
cell migration involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to follicle-stimulating hormone stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to vascular endothelial growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
collecting duct development IEA
Inferred from Electronic Annotation
more info
 
compartment pattern specification IEA
Inferred from Electronic Annotation
more info
 
coronary artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
coronary sinus valve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
coronary vein morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
determination of left/right symmetry ISS
Inferred from Sequence or Structural Similarity
more info
 
distal tubule development IEA
Inferred from Electronic Annotation
more info
 
embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endocardial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardium development ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endoderm development IEA
Inferred from Electronic Annotation
more info
 
epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
forebrain development IEA
Inferred from Electronic Annotation
more info
 
foregut morphogenesis IEA
Inferred from Electronic Annotation
more info
 
glomerular mesangial cell development IEA
Inferred from Electronic Annotation
more info
 
growth involved in heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
heart trabecula morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
homeostasis of number of cells within a tissue ISS
Inferred from Sequence or Structural Similarity
more info
 
humoral immune response IEA
Inferred from Electronic Annotation
more info
 
immune response NAS
Non-traceable Author Statement
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
interleukin-4 secretion IEA
Inferred from Electronic Annotation
more info
 
keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
left/right axis specification IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
mesenchymal cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
mitral valve formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of anoikis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of biomineral tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of calcium ion-dependent exocytosis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cardiac muscle hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of catalytic activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell adhesion molecule production IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell migration involved in sprouting angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation involved in heart valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell-cell adhesion mediated by cadherin IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell-substrate adhesion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of endothelial cell chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of extracellular matrix constituent secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of glial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of growth rate IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of inner ear auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of myoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of myotube differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of ossification ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of photoreceptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of pro-B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
neural tube development IEA
Inferred from Electronic Annotation
more info
 
neuronal stem cell population maintenance IEP
Inferred from Expression Pattern
more info
PubMed 
oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
outflow tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
pericardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of JAK-STAT cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of Notch signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of Ras protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of aorta morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process involved in morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of astrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cardiac epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter in response to hypoxia ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription of Notch receptor target ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription of Notch receptor target TAS
Traceable Author Statement
more info
 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of viral genome replication IEA
Inferred from Electronic Annotation
more info
 
prostate gland epithelium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
pulmonary valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
pulmonary valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of epithelial cell proliferation involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
regulation of extracellular matrix assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of somitogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
response to corticosteroid IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to muramyl dipeptide IEA
Inferred from Electronic Annotation
more info
 
secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell division IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
sprouting angiogenesis IEA
Inferred from Electronic Annotation
more info
 
tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
tube formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
vasculogenesis involved in coronary vascular morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
venous endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
ventricular trabecula myocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
MAML1-RBP-Jkappa- ICN1 complex IDA
Inferred from Direct Assay
more info
PubMed 
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
adherens junction ISS
Inferred from Sequence or Structural Similarity
more info
 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
neurogenic locus notch homolog protein 1
Names
Notch homolog 1, translocation-associated
notch 1
translocation-associated notch protein TAN-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007458.1 RefSeqGene

    Range
    4739..56354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1122

mRNA and Protein(s)

  1. NM_017617.5NP_060087.3  neurogenic locus notch homolog protein 1 preproprotein

    See identical proteins and their annotated locations for NP_060087.3

    Status: REVIEWED

    Source sequence(s)
    AB209873, AF308602, AL354671, AL592301, CN431067, DA324222, R42303
    Consensus CDS
    CCDS43905.1
    UniProtKB/Swiss-Prot
    P46531
    Related
    ENSP00000498587.1, ENST00000651671.1
    Conserved Domains (11) summary
    smart00004
    Location:14421479
    NL; Domain found in Notch and Lin-12
    cd00054
    Location:869905
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00204
    Location:19222034
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00008
    Location:10631093
    EGF; EGF-like domain
    pfam00066
    Location:14871522
    Notch; LNR domain
    pfam06816
    Location:15671618
    NOD; NOTCH protein
    pfam07684
    Location:16721729
    NODP; NOTCH protein
    pfam11235
    Location:24292514
    Med25_SD1; Mediator complex subunit 25 synapsin 1
    pfam11936
    Location:24792540
    DUF3454; Domain of unknown function (DUF3454)
    pfam12796
    Location:19322025
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:18801925
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    136494433..136546048 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518717.2XP_011517019.2  neurogenic locus notch homolog protein 1 isoform X1

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