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NOTCH1 notch receptor 1 [ Homo sapiens (human) ]

Gene ID: 4851, updated on 14-Nov-2024

Summary

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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: mouse all
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Genomic context

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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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Single nucleotide polymorphism of Notch1 gene rs3124599 allele is associated with the severity of CVA6-related HFMD in the Chinese Han population.
Title: Single nucleotide polymorphism of Notch1 gene rs3124599 allele is associated with the severity of CVA6-related HFMD in the Chinese Han population.
Jagged1-Notch1 Signaling Pathway Induces M1 Microglia to Disrupt the Barrier Function of Retinal Microvascular Endothelial Cells.
Title: Jagged1-Notch1 Signaling Pathway Induces M1 Microglia to Disrupt the Barrier Function of Retinal Microvascular Endothelial Cells.
Notch1 signaling pathway promotes growth and metastasis of gastric cancer via modulating CDH5.
Title: Notch1 signaling pathway promotes growth and metastasis of gastric cancer via modulating CDH5.
Prognostic Impact of Notch1 Intracellular Domain, P63, and c-MYC in Lacrimal Gland Adenoid Cystic Carcinoma.
Title: Prognostic Impact of Notch1 Intracellular Domain, P63, and c-MYC in Lacrimal Gland Adenoid Cystic Carcinoma.
Astrocytic DLL4-NOTCH1 signaling pathway promotes neuroinflammation via the IL-6-STAT3 axis.
Title: Astrocytic DLL4-NOTCH1 signaling pathway promotes neuroinflammation via the IL-6-STAT3 axis.
ALYREF promotes the metastasis of nasopharyngeal carcinoma by increasing the stability of NOTCH1 mRNA.
Title: ALYREF promotes the metastasis of nasopharyngeal carcinoma by increasing the stability of NOTCH1 mRNA.
TCF12-regulated GRB7 facilitates the HER2+ breast cancer progression by activating Notch1 signaling pathway.
Title: TCF12-regulated GRB7 facilitates the HER2+ breast cancer progression by activating Notch1 signaling pathway.
Inhibition of SUV39H1 reduces tumor angiogenesis via Notch1 in oral squamous cell carcinoma.
Title: Inhibition of SUV39H1 reduces tumor angiogenesis via Notch1 in oral squamous cell carcinoma.
Genetic variation in NOTCH1 is associated with overweight and obesity in Brazilian elderly.
Title: Genetic variation in NOTCH1 is associated with overweight and obesity in Brazilian elderly.
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Title: Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Submit: New GeneRIF Correction See all GeneRIFs (1409)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

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

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-M73980 (e-PCR)
- UniSTS:55062

NOTCH1_950 (e-PCR)
- UniSTS:277534

D19S235E (e-PCR)
- UniSTS:147513

PMC122602P2 (e-PCR)
- UniSTS:270401

PMC85812P1 (e-PCR)
- UniSTS:273494

PMC140667P1 (e-PCR)
- UniSTS:270956

RH80945 (e-PCR)
- UniSTS:86410

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 cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	ISS Inferred from Sequence or Structural Similarity 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
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

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
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
involved_in 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 animal organ regeneration	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
involved_in apoptotic process involved in embryonic digit morphogenesis	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	ISS Inferred from Sequence or Structural Similarity more info
involved_in 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
involved_in branching morphogenesis of an epithelial tube	IEA Inferred from Electronic Annotation more info
involved_in calcium-ion regulated exocytosis	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	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac left ventricle morphogenesis	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac right atrium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac right ventricle formation	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	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac ventricle morphogenesis	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity 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	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
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
involved_in compartment pattern specification	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	ISS Inferred from Sequence or Structural Similarity 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
involved_in embryonic hindlimb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in endocardial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocardial cushion morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocardium development	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocardium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoderm development	IEA Inferred from Electronic Annotation more info
involved_in epidermal cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation	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	ISS Inferred from Sequence or Structural Similarity more info
involved_in forebrain development	IEA Inferred from Electronic Annotation more info
involved_in foregut morphogenesis	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	ISS Inferred from Sequence or Structural Similarity more info
involved_in 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	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in humoral immune response	IEA Inferred from Electronic Annotation more info
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response to antigenic stimulus	IEA Inferred from Electronic Annotation more info
involved_in 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
involved_in keratinocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in left/right axis specification	IEA Inferred from Electronic Annotation more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in luteolysis	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	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of calcium ion-dependent exocytosis	IEA Inferred from Electronic Annotation more info
involved_in 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	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	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	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
involved_in negative regulation of epithelial cell proliferation	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	ISS Inferred from Sequence or Structural Similarity more info
involved_in 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of oligodendrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of ossification	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of photoreceptor 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
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	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
involved_in neural tube development	IEA Inferred from Electronic Annotation more info
involved_in neuroendocrine cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in neuronal stem cell population maintenance	IEP Inferred from Expression Pattern more info	PubMed
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of BMP signaling pathway	ISS Inferred from Sequence or Structural Similarity 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
involved_in 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
involved_in positive regulation of aorta 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	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity 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
involved_in positive regulation of epithelial cell proliferation	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 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	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
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity 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
involved_in 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	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	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell adhesion involved in heart morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of epithelial cell proliferation involved in prostate gland development	IEA Inferred from Electronic Annotation more info
involved_in regulation of extracellular matrix assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of somitogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of stem cell proliferation	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
involved_in retinal cone cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in somatic stem cell division	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in sprouting angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in tissue regeneration	IEA Inferred from Electronic Annotation more info
involved_in 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in venous endothelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular trabecula myocardium morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
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
located_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	ISS Inferred from Sequence or Structural Similarity more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement 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	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_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

General protein information

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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)

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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

NG_007458.1 RefSeqGene

Range

4739..56354

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1122

mRNA and Protein(s)

NM_017617.5 → NP_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:1442 → 1479

NL; Domain found in Notch and Lin-12

cd00054
Location:869 → 905

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:1922 → 2034

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:1063 → 1093

EGF; EGF-like domain

pfam00066
Location:1487 → 1522

Notch; LNR domain

pfam06816
Location:1567 → 1618

NOD; NOTCH protein

pfam07684
Location:1672 → 1729

NODP; NOTCH protein

pfam11235
Location:2429 → 2514

Med25_SD1; Mediator complex subunit 25 synapsin 1

pfam11936
Location:2479 → 2540

DUF3454; Domain of unknown function (DUF3454)

pfam12796
Location:1932 → 2025

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:1880 → 1925

ANK; ANK repeat [structural motif]