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notch homolog 2 N-terminal-like protein C (NOTCH2NLC)
Function:
- human-specific protein
- promotes neural progenitor proliferation & evolutionary expansion of the brain neocortex by regulating the notch signaling pathway
- able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thud delaying the differentiation of neuronal progenitors leading to an overall increase in neuronal production
- acts by enhancing the notch signaling pathway via two different mechanisms that probably work in parallel to reach thesame effect
- enhances notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2
- promotes notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (putative)
Structure: belongs to the NOTCH family,
Compartment: secreted
Expression:
- expressed in radial glia neural stem cells during cortical development
- expressed at very low level during corticogenesis
Pathology:
- a CGG repeat expansion in the 5-prime untranslated region of the gene is responsible for neuronal intranuclear inclusion disease
- defects in NOTCH2NLC may be a cause of chromosome 1q21.1 deletion syndrome
Genetics:
- NOTCH2NLA, NOTCH2NLB & NOTCH2NLC paralogs arose between 4 & 3 million years ago after the separation of hominids from the chimpanzee & during the early stages of the expansion of the human cortex
General
evolutionary divergent human protein
notch (Drosophila) homolog protein
secreted protein
Properties
SIZE: entity length = 236 aa
MW = 26 kD
COMPARTMENT: plasma membrane
MOTIF: ligand-binding site
EGF domain
Notch/Lin12 repeat
ankyrin repeat
NAME: ankyrin repeat
transmembrane domain
Database Correlations
OMIM correlations
UniProt P0DPK4
PFAM correlations
Entrez Gene 388677
Kegg hsa:388677
References
- UniProt :accession P0DPK4
- UniProt PubMed refs
- PMID: 29856954
- PMID: 29856955
- PMID: 856954
- PMID: 31332381