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NOTCH3 notch 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000435 Homo sapiens notch 3 (NOTCH3), mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol NOTCH3
Entrez Gene ID 4854
Full Name notch 3
Synonyms CADASIL, CASIL
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19p13.2-p13.1

Summary 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). [provided by RefSeq, Jul 2008].
Disorder

MIM: 600276

Cerebral arteriopathy with subcortical infarcts and

mRNA Protein Product Sequence Price Select
NM_000435, 134244284 NP_000426, 134244285 neurogenic locus notch homolog protein 3 ORF Sequence $3500.00
KEGG
hsa04320Dorso-ventral axis formation
hsa04330Notch signaling pathway
Pathway Interaction Database
notch_pathwayNotch signaling pathway
WikiPathways
WP268Notch Signaling Pathway
WP2064Neural Crest Differentiation
WP61Delta-Notch Signaling Pathway
Reactome
REACT_118722Pre-NOTCH Processing in the Endoplasmic Reticulum
REACT_71Gene Expression
REACT_118798Pre-NOTCH Processing in Golgi
REACT_118744Pre-NOTCH Expression and Processing
REACT_118862Signaling by NOTCH3
REACT_118568Pre-NOTCH Transcription and Translation
REACT_299Signaling by NOTCH
REACT_12627Generic Transcription Pathway
REACT_14835Notch-HLH transcription pathway
REACT_111102Signal Transduction
Homo sapiens (human)NOTCH3NP_000426.2
Pan troglodytes (chimpanzee)NOTCH3XP_003316212.1
Macaca mulatta (Rhesus monkey)NOTCH3XP_002808222.1
Canis lupus familiaris (dog)NOTCH3XP_853041.2
Bos taurus (cattle)LOC789485XP_003586294.1
Mus musculus (house mouse)Notch3NP_032742.1
Rattus norvegicus (Norway rat)Notch3NP_064472.2
GeneCards NOTCH3
UniProt Q9UM47
MIM 600276
Ensembl ENSG00000074181
HGNC 7883
HPRD 02607

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
neurogenic locus notch homolog protein 3
Names
neurogenic locus notch homolog protein 3
Notch homolog 3

Interactant



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