Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: NOTCH1 (notch receptor 1) Homo sapiens
Analyze
Symbol: NOTCH1
Name: notch receptor 1
Description: Predicted to have several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II proximal promoter sequence-specific DNA binding activity; and enzyme inhibitor activity. Involved in several processes, including heart development; negative regulation of endothelial cell migration; and positive regulation of intracellular signal transduction. Localizes to the MAML1-RBP-Jkappa- ICN1 complex and receptor complex. Implicated in Adams-Oliver syndrome; adult T-cell leukemia; and aortic valve disease 1. Biomarker of cholangiocarcinoma and endometrial cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AOS5; AOVD1; hN1; neurogenic locus notch homolog protein 1; notch 1; notch gene homolog 1, (drosophila); Notch homolog 1, translocation-associated; TAN1; translocation-associated notch protein TAN-1
Orthologs:
Mus musculus (house mouse) : Notch1 (notch 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Notch1 (notch receptor 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Notch1 (notch receptor 1)
Pan paniscus (bonobo/pygmy chimpanzee) : NOTCH1 (notch receptor 1)
Canis lupus familiaris (dog) : NOTCH1 (notch receptor 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Notch1 (notch receptor 1)
Sus scrofa (pig) : NOTCH1 (notch receptor 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389136,494,433 - 136,546,048 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379139,388,896 - 139,440,238 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369138,508,717 - 138,560,059 (-)NCBINCBI36hg18NCBI36
Build 349136,664,733 - 136,716,075NCBI
Celera9109,903,340 - 109,955,631 (-)NCBI
Cytogenetic Map9q34.3NCBI
HuRef9108,848,155 - 108,928,442 (-)NCBIHuRef
CHM1_19139,537,619 - 139,588,846 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data