Notch3 notch 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Notch3provided by MGI
Official Full Name: notch 3provided by MGI
Primary source: MGI:MGI:99460
See related: Ensembl:ENSMUSG00000038146 AllianceGenome:MGI:99460
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: N3; hpbk
Summary: Enables enzyme binding activity. Involved in Notch signaling pathway; glomerular capillary formation; and positive regulation of smooth muscle cell proliferation. Acts upstream of or within several processes, including artery morphogenesis; nervous system development; and regulation of transcription by RNA polymerase II. Located in nucleus and plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Used to study CADASIL 1 and acute lymphoblastic leukemia. Human ortholog(s) of this gene implicated in CADASIL 1; infantile myofibromatosis; and lateral meningocele syndrome. Orthologous to human NOTCH3 (notch receptor 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in lung adult (RPKM 45.0), mammary gland adult (RPKM 29.4) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 B1; 17 17.37 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (32339794..32385869, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (32120820..32166896, complement)

Chromosome 17 - NC_000083.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL.
Title: Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL.
Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice.
Title: Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice.
Nestin and Notch3 collaboratively regulate angiogenesis, collagen production, and endothelial-mesenchymal transition in lung endothelial cells.
Title: Nestin and Notch3 collaboratively regulate angiogenesis, collagen production, and endothelial-mesenchymal transition in lung endothelial cells.
Left ventricular hypertrophy and metabolic resetting in the Notch3-deficient adult mouse heart.
Title: Left ventricular hypertrophy and metabolic resetting in the Notch3-deficient adult mouse heart.
Notch3/Hes5 Induces Vascular Dysfunction in Hypoxia-Induced Pulmonary Hypertension Through ER Stress and Redox-Sensitive Pathways.
Title: Notch3/Hes5 Induces Vascular Dysfunction in Hypoxia-Induced Pulmonary Hypertension Through ER Stress and Redox-Sensitive Pathways.
Identification of acquired Notch3 dependency in metastatic Head and Neck Cancer.
Title: Identification of acquired Notch3 dependency in metastatic Head and Neck Cancer.
Notch3 regulates Mybl2 via HeyL to limit proliferation and tumor initiation in breast cancer.
Title: Notch3 regulates Mybl2 via HeyL to limit proliferation and tumor initiation in breast cancer.
Deletion of Notch3 Impairs Contractility of Renal Resistance Vessels Due to Deficient Ca[2+] Entry.
Title: Deletion of Notch3 Impairs Contractility of Renal Resistance Vessels Due to Deficient Ca(2+) Entry.
Induction of a NOTCH3 Lehman syndrome mutation in osteocytes causes osteopenia in male C57BL/6J mice.
Title: Induction of a NOTCH3 Lehman syndrome mutation in osteocytes causes osteopenia in male C57BL/6J mice.
Use of antisense oligonucleotides to target Notch3 in skeletal cells.
Title: Use of antisense oligonucleotides to target Notch3 in skeletal cells.

Submit: New GeneRIF Correction See all GeneRIFs (110)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (7) 1 citation
Gene trapped (1) 1 citation
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW229011 (e-PCR)
- UniSTS:180993

Notch3 (e-PCR), detects polymorphism
- UniSTS:265731

25.MMHAP32FLA4.seq (e-PCR)
- UniSTS:123681

Notch3 (e-PCR), detects polymorphism
- UniSTS:465464

Notch3 (e-PCR), detects polymorphism
- UniSTS:465465

Notch3 (e-PCR), detects polymorphism
- UniSTS:546898

371M4-T7 (e-PCR), detects polymorphism
- UniSTS:140937

X74760 (e-PCR)
- UniSTS:125838

503G1-Sp6 (e-PCR), detects polymorphism
- UniSTS:140957

Notch3 (e-PCR), detects polymorphism
- UniSTS:547744

Notch3 (e-PCR), detects polymorphism
- UniSTS:144047

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	ISO Inferred from Sequence Orthology more info
enables signaling receptor activity	ISS Inferred from Sequence or Structural Similarity 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	IC Inferred by Curator more info	PubMed
involved_in Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in Notch signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within forebrain development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in glomerular capillary formation	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within negative regulation of cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuroblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate commitment	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of miRNA transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of miRNA transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
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 nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology 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
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: neurogenic locus notch homolog protein 3

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_008716.3 → NP_032742.1 neurogenic locus notch homolog protein 3 precursor

See identical proteins and their annotated locations for NP_032742.1

Status: VALIDATED

Source sequence(s)

CT033755, CT033797

Consensus CDS

CCDS28614.1

UniProtKB/Swiss-Prot

Q61982

Related

ENSMUSP00000085016.4, ENSMUST00000087723.5

Conserved Domains (12) summary

smart00004
Location:1422 → 1459

NL; Domain found in Notch and Lin-12

COG0666
Location:1778 → 1894

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00054
Location:159 → 196

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:1867 → 1993

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 ...

pfam00066
Location:1475 → 1501

Notch; LNR domain

pfam06816
Location:1509 → 1558

NOD; NOTCH protein

pfam07684
Location:1579 → 1638

NODP; NOTCH protein

pfam11936
Location:2212 → 2274

DUF3454; Domain of unknown function (DUF3454)

pfam12796
Location:1911 → 2003

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:1859 → 1914

Ank_5; Ankyrin repeats (many copies)

pfam15822
Location:2052 → 2298

MISS; MAPK-interacting and spindle-stabilizing protein-like

sd00045
Location:1906 → 1937

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

32339794..32385869 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017317293.2 → XP_017172782.1 neurogenic locus notch homolog protein 3 isoform X1

Conserved Domains (9) summary

smart00004
Location:1422 → 1459

NL; Domain found in Notch and Lin-12

PHA03247
Location:2040 → 2327

PHA03247; large tegument protein UL36; Provisional

COG0666
Location:1871 → 2037

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00054
Location:159 → 196

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 ...

sd00045
Location:1918 → 1949

ANK; ANK repeat [structural motif]

pfam00066
Location:1475 → 1501

Notch; LNR domain

pfam06816
Location:1506 → 1558

NOD; NOTCH protein

pfam07684
Location:1579 → 1634

NODP; NOTCH protein

pfam11936
Location:2224 → 2286

DUF3454; Domain of unknown function (DUF3454)
XM_030249555.2 → XP_030105415.1 neurogenic locus notch homolog protein 3 isoform X2

Conserved Domains (10) summary

smart00004
Location:1080 → 1117

NL; Domain found in Notch and Lin-12

PHA03247
Location:1698 → 1985

PHA03247; large tegument protein UL36; Provisional

COG0666
Location:1529 → 1695

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00054
Location:469 → 505

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 ...

sd00045
Location:1576 → 1607

ANK; ANK repeat [structural motif]

pfam00066
Location:1133 → 1159

Notch; LNR domain

pfam01414
Location:406 → 466

DSL; Delta serrate ligand

pfam06816
Location:1164 → 1216

NOD; NOTCH protein

pfam07684
Location:1237 → 1292

NODP; NOTCH protein

pfam11936
Location:1882 → 1944

DUF3454; Domain of unknown function (DUF3454)