Recombinant Human Neurogenic locus notch homolog protein 3 (NOTCH3), Truncated

Uniprot Id

Q9UM47

Target Species

Human

Target Name

NOTCH3

Target Full Name

Neurogenic locus notch homolog protein 3

Target Function

Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs.

Target Involvement

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1); Myofibromatosis, infantile 2 (IMF2); Lateral meningocele syndrome (LMNS)

Target Subcellular Location

Cell membrane; Single-pass type I membrane protein.; [Notch 3 intracellular domain]: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus.

Target Protein Families

NOTCH family

Target Tissue Specificity

Ubiquitously expressed in fetal and adult tissues.

Target Synonyms

CADASIL; CASIL; NOTC3_HUMAN; Notch 3; Notch 3 intracellular domain; Notch homolog 3; Notch3

Target Background

This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).