Notch 1

Last updated
NOTCH1
Protein NOTCH1 PDB 1pb5.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases NOTCH1 , Notch1, 9930111A19Rik, Mis6, N1, Tan1, lin-12, AOS5, AOVD1, hN1, notch 1, notch receptor 1
External IDs OMIM: 190198 MGI: 97363 HomoloGene: 32049 GeneCards: NOTCH1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017617

NM_008714

RefSeq (protein)

NP_060087

NP_032740

Location (UCSC) Chr 9: 136.49 – 136.55 Mb Chr 2: 26.35 – 26.41 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Neurogenic locus notch homolog protein 1(Notch 1) is a protein encoded in humans by the NOTCH1 gene. [5] Notch 1 is a single-pass transmembrane receptor.

Function

This gene encodes a member of the Notch family. Members of this type 1 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 family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells. In Drosophila , notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in humans, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development. [6]

A deficiency can be associated with bicuspid aortic valve. [7]

There is evidence that activated Notch 1 and Notch 3 promote differentiation of progenitor cells into astroglia. [8] Notch 1, when activated before birth, induces radial glia differentiation, [9] but postnatally induces the differentiation into astrocytes. [10] One study shows that Notch-1 cascade is activated by Reelin in an unidentified way. [11] Reelin and Notch1 cooperate in the development of the dentate gyrus, according to another. [12]

Interactions

NOTCH1 has been shown to interact with:

Related Research Articles

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<span class="mw-page-title-main">NOTCH3</span> Protein-coding gene in the species Homo sapiens

Neurogenic locus notch homolog protein 3(Notch 3) is a protein that in humans is encoded by the NOTCH3 gene.

<span class="mw-page-title-main">JAG1</span> Protein-coding gene in the species Homo sapiens

Jagged1 (JAG1) is one of five cell surface proteins (ligands) that interact with four receptors in the mammalian Notch signaling pathway. The Notch Signaling Pathway is a highly conserved pathway that functions to establish and regulate cell fate decisions in many organ systems. Once the JAG1-NOTCH (receptor-ligand) interactions take place, a cascade of proteolytic cleavages is triggered resulting in activation of the transcription for downstream target genes. Located on human chromosome 20, the JAG1 gene is expressed in multiple organ systems in the body and causes the autosomal dominant disorder Alagille syndrome (ALGS) resulting from loss of function mutations within the gene. JAG1 has also been designated as CD339.

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<span class="mw-page-title-main">Notch 4</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Notch 2</span> Protein-coding gene in the species Homo sapiens

Neurogenic locus notch homolog protein 2 is a protein that in humans is encoded by the NOTCH2 gene.

<span class="mw-page-title-main">NUMB (gene)</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Delta-like 1</span> Protein-coding gene in the species Homo sapiens

Delta-like protein 1 is a protein that in humans is encoded by the DLL1 gene.

<span class="mw-page-title-main">RBPJ</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">AH receptor-interacting protein</span> Protein-coding gene in the species Homo sapiens

AH receptor-interacting protein (AIP) also known as aryl hydrocarbon receptor-interacting protein, immunophilin homolog ARA9, or HBV X-associated protein 2 (XAP-2) is a protein that in humans is encoded by the AIP gene. The protein is a member of the FKBP family.

<span class="mw-page-title-main">JAG2</span> Protein-coding gene in the species Homo sapiens

Jagged-2 is a protein that in humans is encoded by the JAG2 gene.

<span class="mw-page-title-main">MFNG</span> Protein-coding gene in the species Homo sapiens

Beta-1,3-N-acetylglucosaminyltransferase manic fringe is an enzyme that in humans is encoded by the MFNG gene, a member of the fringe gene family which also includes the radical fringe (RFNG) and lunatic fringe (LFNG).

<span class="mw-page-title-main">MAML1</span> Protein-coding gene in the species Homo sapiens

Mastermind-like protein 1 is a protein that in humans is encoded by the MAML1 gene.

<span class="mw-page-title-main">Notch proteins</span> Protein family

Notch proteins are a family of type 1 transmembrane proteins that form a core component of the Notch signaling pathway, which is highly conserved in metazoans. The Notch extracellular domain mediates interactions with DSL family ligands, allowing it to participate in juxtacrine signaling. The Notch intracellular domain acts as a transcriptional activator when in complex with CSL family transcription factors. Members of this type 1 transmembrane protein family share several core structures, including an extracellular domain consisting of multiple epidermal growth factor (EGF)-like repeats and an intracellular domain transcriptional activation domain (TAD). Notch family members operate in a variety of different tissues and play a role in a variety of developmental processes by controlling cell fate decisions. Much of what is known about Notch function comes from studies done in Caenorhabditis elegans (C.elegans) and Drosophila melanogaster. Human homologs have also been identified, but details of Notch function and interactions with its ligands are not well known in this context.

In molecular biology, there are a number of neurogenic proteins referred to as mastermind-like proteins (MAMLs) of which this domain is the N-terminal region. Mastermind-like proteins act as critical transcriptional co-activators for Notch signaling.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000148400 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026923 - Ensembl, May 2017
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  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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Further reading