NOTCH1

Name

notch receptor 1

Type

protein-coding

Position

136,494,433–136,546,048 (−)

Aliases

AOS5, AOVD1, TAN1, hN1

Ensembl

ENSG00000148400

RefSeq RNA

NM_017617.5, XM_011518717.3, XM_054363009.1

RefSeq protein

NP_060087.3, XP_011517019.2, XP_054218984.1

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].

via MyGene.info

Gene · Ensembl

notch receptor 1

Symbol

NOTCH1

Biotype

Protein coding

Organism

Homo sapiens

Location

9:136,494,433-136,546,048

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

Image

Protein NOTCH1 PDB 1pb5.png

via Wikidata · CC0