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NOTCH1 notch receptor 1 [ Homo sapiens (human) ]

Gene ID: 4851, updated on 3-May-2025
Official Symbol
NOTCH1provided by HGNC
Official Full Name
notch receptor 1provided by HGNC
Primary source
HGNC:HGNC:7881
See related
Ensembl:ENSG00000148400 MIM:190198; AllianceGenome:HGNC:7881
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
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See NOTCH1 in Genome Data Viewer
Location:
9q34.3
Exon count:
34
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136494433..136546048, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (148723532..148777907, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139388885..139440500, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139330456-139330964 Neighboring gene hESC enhancers GRCh37_chr9:139332501-139333134 to GRCh37_chr9:139333770-139334403 Neighboring gene inositol polyphosphate-5-phosphatase E Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:139342099-139343298 Neighboring gene SEC16 homolog A, endoplasmic reticulum export factor Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:139376640-139377385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139378131-139378875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20524 Neighboring gene chromosome 9 putative open reading frame 163 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:139392592-139393791 Neighboring gene uncharacterized LOC124902310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139420763-139421634 Neighboring gene microRNA 4673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29311 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139433302-139433969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139434130-139434814 Neighboring gene Sharpr-MPRA regulatory region 6589 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139436183-139436865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139441357-139442268 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:139444236-139445435 Neighboring gene microRNA 4674 Neighboring gene NOTCH1 associated lncRNA in T cell acute lymphoblastic leukemia 1

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associated conditions

Description Tests
Adams-Oliver syndrome 5
MedGen: C4014970 OMIM: 616028 GeneReviews: Not available
Compare labs
Aortic valve disease 1
MedGen: C3887892 OMIM: 109730 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2024-09-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2024-09-24)

ClinGen Genome Curation PagePubMed

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables Notch binding IEA
Inferred from Electronic Annotation
more info
 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enables cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables enzyme binding IEA
Inferred from Electronic Annotation
more info
 
enables enzyme binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables enzyme inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
enables enzyme inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
enables transcription coactivator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables transcription regulator activator activity IEA
Inferred from Electronic Annotation
more info
 
enables transmembrane signaling receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in Notch signaling pathway TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in T-helper 17 type immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in animal organ regeneration IEA
Inferred from Electronic Annotation
more info
 
involved_in aortic valve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in aortic valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in aortic valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in aortic valve morphogenesis TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within apoptotic process involved in embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in arterial endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in arterial endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in astrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in atrioventricular node development IEA
Inferred from Electronic Annotation
more info
 
involved_in atrioventricular valve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in atrioventricular valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within auditory receptor cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within axonogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within branching morphogenesis of an epithelial tube IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of calcium-ion regulated exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac atrium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac atrium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac chamber formation IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac chamber formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac left ventricle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac left ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac muscle cell myoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac muscle cell myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac muscle tissue morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac muscle tissue morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac right atrium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac right atrium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within cardiac right ventricle formation IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac vascular smooth muscle cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac vascular smooth muscle cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac ventricle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation in spinal cord IEA
Inferred from Electronic Annotation
more info
 
involved_in cell migration involved in endocardial cushion formation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell migration involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to follicle-stimulating hormone stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to hypoxia ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to tumor cell IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to vascular endothelial growth factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of central nervous system neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical synaptic transmission, postsynaptic IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in collecting duct development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within compartment pattern specification IEA
Inferred from Electronic Annotation
more info
 
involved_in coronary artery morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in coronary artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in coronary sinus valve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in coronary vein morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in coronary vein morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
 
involved_in determination of left/right symmetry ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in distal tubule development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in endocardial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in endocardial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within endocardial cushion development IEA
Inferred from Electronic Annotation
more info
 
involved_in endocardial cushion morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardium development IEA
Inferred from Electronic Annotation
more info
 
involved_in endocardium development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in endocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within endoderm development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within epidermal cell fate specification IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within epidermis development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within epithelial cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within forebrain development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within foregut morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within glial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in glomerular mesangial cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in growth involved in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in growth involved in heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart looping IEA
Inferred from Electronic Annotation
more info
 
involved_in heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart trabecula morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in heart trabecula morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
involved_in homeostasis of number of cells within a tissue ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within humoral immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in immune response NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within inhibition of neuroepithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in interleukin-17-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in left/right axis specification IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within liver development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lung development IEA
Inferred from Electronic Annotation
more info
 
involved_in luteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in mesenchymal cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in mesenchymal cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mitral valve formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of anoikis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of biomineral tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of biomineral tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within negative regulation of calcium ion-dependent exocytosis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cardiac muscle cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cardiac muscle hypertrophy IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cardiac muscle hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of catalytic activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell adhesion molecule production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell migration involved in sprouting angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell proliferation involved in heart valve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell proliferation involved in heart valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell-cell adhesion mediated by cadherin IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell-substrate adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cold-induced thermogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in negative regulation of collagen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of endothelial cell chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of extracellular matrix constituent secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of extracellular matrix constituent secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of glial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of glial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within negative regulation of inner ear auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of myoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of myotube differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of ossification IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of ossification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within negative regulation of photoreceptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of pro-B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of pro-B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within negative regulation of programmed cell death IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within neural tube development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of neuroendocrine cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neuron fate commitment IEA
Inferred from Electronic Annotation
more info
 
involved_in neuronal stem cell population maintenance IEP
Inferred from Expression Pattern
more info
PubMed 
acts_upstream_of_or_within oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in outflow tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pericardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in pericardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of Ras protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of aorta morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of apoptotic process involved in morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of apoptotic process involved in morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of astrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of astrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cardiac epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cardiac epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cardiac muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of glial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of receptor signaling pathway via JAK-STAT IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of receptor signaling pathway via JAK-STAT ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of smooth muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of transcription of Notch receptor target IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription of Notch receptor target IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription of Notch receptor target ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of viral genome replication IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within prostate gland epithelium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in protein import into nucleus IEA
Inferred from Electronic Annotation
more info
 
involved_in pulmonary valve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in pulmonary valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pulmonary valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cardioblast proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell adhesion involved in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of developmental process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of epithelial cell proliferation involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of extracellular matrix assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of extracellular matrix assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of inner ear auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of somitogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
involved_in response to muramyl dipeptide IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of retinal cone cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within somatic stem cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within sprouting angiogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in tube formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vasculogenesis involved in coronary vascular morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in vasculogenesis involved in coronary vascular morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within venous blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in venous endothelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in venous endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventricular septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in ventricular septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ventricular trabecula myocardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in ventricular trabecula myocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
part_of MAML1-RBP-Jkappa- ICN1 complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in adherens junction IEA
Inferred from Electronic Annotation
more info
 
located_in adherens junction ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell periphery IEA
Inferred from Electronic Annotation
more info
 
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
located_in endosome membrane TAS
Traceable Author Statement
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleus TAS
Traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
is_active_in postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
neurogenic locus notch homolog protein 1
Names
Notch homolog 1, translocation-associated
notch 1
translocation-associated notch protein TAN-1

NEW Try the new Transcript table

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, Q59ED8, Q5SXM3
    UniProtKB/TrEMBL
    A0A7P0T8U6
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011518717.3XP_011517019.2  neurogenic locus notch homolog protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A7P0T8U6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    148723532..148777907 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363009.1XP_054218984.1  neurogenic locus notch homolog protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A7P0T8U6