Version: 8.1.0Date: Fri Apr 18 2025
Gene
NOTCH1
- Species
- Homo sapiens
- Symbol
- NOTCH1
- Name
- notch receptor 1
- Synonyms
- AOS5
- AOVD1
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; identical protein binding activity; and transcription coactivator activity. Involved in several processes, including heart development; negative regulation of endothelial cell migration; and regulation of transcription by RNA polymerase II. Part of MAML1-RBP-Jkappa- ICN1 complex and receptor complex. Implicated in Adams-Oliver syndrome; adult T-cell leukemia/lymphoma; aortic valve disease 1; and congenital heart disease. Biomarker of cholangiocarcinoma; endometrial cancer; and hemangiopericytoma.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR45836
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr9:136494433...136546048 - (51.62 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.