Notch1
Gene Detail

Symbol Name ID

Notch1 notch 1 MGI:97363

Synonyms

9930111A19Rik, lin-12, Mis6, Motch A, N1, Tan1

Feature Type

protein coding gene

Genetic Map

Chromosome 2

18.91 cM
Detailed Genetic Map ± 1 cM


Mapping data(19)

Sequence Map

Chr2:26457903-26516663 bp, - strand From VEGA annotation of GRCm38   58761 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:32049  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: notch protein
Gene Tree: Notch1

Human homologs

Human Homolog		NOTCH1, notch 1
NCBI Gene ID		4851
neXtProt AC		NX_P46531
Human Synonyms		hN1, TAN1
Human Chr (Location)		9q34.3; chr9:139388896-139440238 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human NOTCH1

Alleles and phenotypes

All alleles(43) : Targeted(17) Gene trapped(25) Chemically induced(1)
 

Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background.

 

Gene Ontology (GO) classifications

All GO classifications: (199 annotations)

Process	anagen, aortic valve morphogenesis, ...
Component	acrosomal vesicle, cell surface, ...
Function	calcium ion binding, chromatin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (368 records)
Data Summary: Results (805)    Tissues (343)    Images (216)
Theiler Stages: 1, 2, 3, 4, 5, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	22
RNA in situ	602
Northern blot	30
Western blot	9
RT-PCR	121
RNase protection	21

cDNA source data(154)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(182) Genomic(5) cDNA(162) Primer pair(14) Other(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000012795 (Evidence)
Ensembl Gene Model	ENSMUSG00000026923 (Evidence)
Entrez Gene	18128 (Evidence)
UniGene	290610
PDB	1YMP, 2RQZ, 3P3N, 3P3P, 2QC9, 2RR0, 2RR2
Consensus CDS Project	CCDS15806.1
International Mouse Knockout Project Status	Notch1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012795	VEGA Gene Model | MGI Sequence Detail	58761	C57BL/6J
transcript	OTTMUST00000030656	VEGA | MGI Sequence Detail	9488	Not Applicable
polypeptide	OTTMUSP00000013754	VEGA | MGI Sequence Detail	2531	Not Applicable

All sequences(70) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(5) : SNPs(233 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002110	Ankyrin repeat
InterPro	IPR020683	Ankyrin repeat-containing domain
InterPro	IPR024600	Domain of unknown function DUF3454, notch
InterPro	IPR001881	EGF-like calcium-binding
InterPro	IPR018097	EGF-like calcium-binding, conserved site
InterPro	IPR013032	EGF-like, conserved site
InterPro	IPR000152	EGF-type aspartate/asparagine hydroxylation site
InterPro	IPR000742	Epidermal growth factor-like domain
InterPro	IPR022362	Neurogenic locus Notch 1
InterPro	IPR008297	Notch
InterPro	IPR000800	Notch domain
InterPro	IPR010660	Notch, NOD domain
InterPro	IPR011656	Notch, NODP domain
Protein Ontology	PR:000011331	neurogenic locus notch protein 1

References

(Earliest) J:31835 Weinmaster G, et al., A homolog of Drosophila Notch expressed during mammalian development. Development. 1991 Sep;113(1):199-205
(Latest) J:195070 Luxan G, et al., Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. Nat Med. 2013 Feb;19(2):193-201
All references(662)

Other accession IDs

MGD-MRK-12915, MGD-MRK-18791, MGI:1915375