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NOTCH3 information


NOTCH3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNOTCH3, CADASIL, CASIL, IMF2, LMNS, CADASIL1, notch 3, notch receptor 3
External IDsOMIM: 600276 MGI: 99460 HomoloGene: 376 GeneCards: NOTCH3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000435

NM_008716

RefSeq (protein)

NP_000426

NP_032742

Location (UCSC)Chr 19: 15.16 – 15.2 MbChr 17: 32.34 – 32.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Neurogenic locus notch homolog protein 3 (Notch 3) is a protein that in humans is encoded by the NOTCH3 gene.[5][6]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000074181 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038146 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Sugaya K, Fukagawa T, Matsumoto K, Mita K, Takahashi E, Ando A, Inoko H, Ikemura T (September 15, 1994). "Three genes in the human MHC class III region near the junction with the class II: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a notch homolog, human counterpart of mouse mammary tumor gene int-3". Genomics. 23 (2): 408–19. doi:10.1006/geno.1994.1517. PMID 7835890.
  6. ^ "Entrez Gene: NOTCH3 Notch homolog 3 (Drosophila)".

and 24 Related for: NOTCH3 information

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NOTCH3

Last Update:

homolog protein 3 (Notch 3) is a protein that in humans is encoded by the NOTCH3 gene. This gene encodes the third discovered human homologue of the Drosophila...

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CADASIL

Last Update:

each mutation, a consensus significant loss of beta sheet structure of the Notch3 protein has been predicted using in silico analysis. MRIs show hypointensities...

Word Count : 1900

Notch signaling pathway

Last Update:

possess four different notch receptors, referred to as NOTCH1, NOTCH2, NOTCH3, and NOTCH4. The notch receptor is a single-pass transmembrane receptor...

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Cerebrovascular disease

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is an inherited disorder caused by mutations in the NOTCH3 gene located on chromosome 19. NOTCH3 codes for a transmembrane protein whose function is not...

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Lateral meningocele syndrome

Last Update:

previous clinical reports, as well as a heterozygous pathogenic variant in the NOTCH3 gene. Diagnosis of Lehman syndrome may be suspected based on several distinctive...

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Ovarian cancer

Last Update:

MLH1 1% NF1 deletion (8%) and point mutation (4%) high-grade serous 12% NOTCH3 amplification and point mutation 11% NRAS low-grade serous PIK3C3 (PI3K3)...

Word Count : 20751

Proteinopathy

Last Update:

cerebral hemorrhage with amyloidosis (Icelandic) (HCHWA-I) Cystatin C CADASIL Notch3 Alexander disease Glial fibrillary acidic protein (GFAP) Pelizaeus-Merzbacher...

Word Count : 4592

Chromosome 19

Last Update:

19p13 COMP: Cartilage oligomeric matrix protein. Gene map locus 19p13.1 NOTCH3: Notch homolog 3 (Drosophila): Gene map locus 19p13.1-p13.2 GCDH: Glutaryl-Coenzyme...

Word Count : 2547

Anne Joutel

Last Update:

Joutel, C Corpechot, A Ducros, K Vahedi, H Chabriat, P Mouton, et al. 1996. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke...

Word Count : 778

List of genetic disorders

Last Update:

ATP2A1 1:10,000,000 Brunner syndrome MAOA 1:500,000,000 CADASIL syndrome NOTCH3 P 1:156,000,000 Cat eye syndrome 22 1:74,000 CRASIL syndrome HTRA1 1:156...

Word Count : 969

Transmissible spongiform encephalopathy

Last Update:

the cases of PML (caused by the JC virus), CADASIL (caused by abnormal NOTCH3 protein activity), and Krabbe disease (caused by a deficiency of the enzyme...

Word Count : 4185

List of distinct cell types in the adult human body

Last Update:

NTRK3, NOTCH3, HEY2 blood vessel smooth muscle cell unknown unknown systemic artery None None unknown None COL1A2, DCN, MFAP4, PLN, NTRK3, NOTCH3, HEY2...

Word Count : 1207

Chronic pain

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Williams & Wilkins. ISBN 978-0443056833. Rusanescu G, Mao J (October 2014). "Notch3 is necessary for neuronal differentiation and maturation in the adult spinal...

Word Count : 10688

NBPF26

Last Update:

XP_053230981.1 2,531 14.6 22.8 Reptilia Pseudonaja textilis Eastern brown snake NOTCH3 XP_026552021.1 2,416 14.3 21.3 Amphibia Spea bombifrons Plains spadefoot...

Word Count : 718

Notch 1

Last Update:

Takahashi J, Tashiro K, Kurooka H, Honjo T (January 2001). "Notch1 and Notch3 instructively restrict bFGF-responsive multipotent neural progenitor cells...

Word Count : 1497

Ankyrin repeat

Last Update:

NFKB1; NFKB2; NFKBIA; NFKBIB; NFKBIE; NFKBIL1; NFKBIL2; NOTCH1; NOTCH2; NOTCH3; NOTCH4; NRARP; NUDT12; OSBPL1A; OSTF1; PLA2G6; POTE14; POTE15; POTE8; PPP1R12A;...

Word Count : 1393

Infantile myofibromatosis

Last Update:

These familial cases are associated with mutations in either the PDGFRB or NOTCH3 gene. However, most IMF cases have no family history of the disease but...

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Diffuse infantile fibromatosis

Last Update:

disorder is known to be caused by mutations in germline variants, PDGFRB and NOTCH3, which may be generationally-inherited through autosomal dominant and recessive...

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JAG1

Last Update:

"Physical interaction of Delta1, Jagged1, and Jagged2 with Notch1 and Notch3 receptors". Biochem. Biophys. Res. Commun. 276 (1): 385–9. doi:10.1006/bbrc...

Word Count : 2693

Dependence receptor

Last Update:

programmed cell death. The following is the list of known dependence receptors: Notch3 Kremen1 DCC (Deleted in Colorectal Carcinoma) UNC5 receptors (UNC5A, UNC5B...

Word Count : 1432

JAG2

Last Update:

"Physical interaction of Delta1, Jagged1, and Jagged2 with Notch1 and Notch3 receptors". Biochem. Biophys. Res. Commun. 276 (1): 385–9. doi:10.1006/bbrc...

Word Count : 1018

Neuronal lineage marker

Last Update:

Neuritin; NeuroD1; Neurofilament alpha-internexin/NF66; Notch1; Notch2; Notch3; Nucleostemin; Otx2; PAX3; S100B; SOX2; Semaphorin 3C; Semaphorin 6A; Semaphorin...

Word Count : 3768

List of genes mutated in cutaneous conditions

Last Update:

Neurofibromin Neurofibromatosis type 1 NOD2 Blau syndrome, Early-onset sarcoidosis NOTCH3 CADASIL syndrome NSDHL 3-beta-hydroxysteroid dehydrogenase CHILD syndrome...

Word Count : 108

Notch proteins

Last Update:

Takahashi J, Tashiro K, Kurooka H, Honjo T (January 2001). "Notch1 and Notch3 instructively restrict bFGF-responsive multipotent neural progenitor cells...

Word Count : 3548

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