NOTCH3 - notch receptor 3 Gene
Also Known as IMF2; LMNS; CASIL; CADASIL; CADASIL1
Species: Homo sapiens
About NOTCH3
This gene has 6 transcripts (splice variants), 200 orthologues, 7 paralogues and is associated with 8 phenotypes. Broad expression in fat (RPKM 35.4), placenta (RPKM 33.8) and 22 other tissues.
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]
NOTCH3 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000435.3 | NP_000426.2 | neurogenic locus notch homolog protein 3 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
26051713 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11006133 | GOA |
| enables signaling receptor activity |
IMP
IMP: Inferred from mutant phenotype
|
15350543 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in positive regulation of miRNA transcription |
IMP
IMP: Inferred from mutant phenotype
|
25323858 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15350543 | GOA |
| part of receptor complex |
IDA
IDA: Inferred from direct assay
|
23382219 | GOA |
NOTCH3 Protein Structure
EGF: EGF-like domain (43 - 75)
EGF: EGF-like domain (123 - 153)
EGF_CA: Calcium-binding EGF domain (158 - 190)
EGF: EGF-like domain (240 - 269)
EGF_CA: Calcium-binding EGF domain (274 - 307)
EGF: EGF-like domain (355 - 385)
EGF_CA: Calcium-binding EGF domain (391 - 424)
EGF_CA: Calcium-binding EGF domain (431 - 462)
EGF: EGF-like domain (473 - 502)
EGF: EGF-like domain (511 - 539)
EGF: EGF-like domain (549 - 577)
EGF: EGF-like domain (586 - 614)
hEGF: Human growth factor-like EGF (643 - 654)
EGF: EGF-like domain (699 - 728)
EGF: EGF-like domain (775 - 806)
EGF_CA: Calcium-binding EGF domain (810 - 842)
EGF: EGF-like domain (853 - 883)
EGF: EGF-like domain (928 - 958)
EGF: EGF-like domain (1004 - 1031)
EGF: EGF-like domain (1055 - 1080)
hEGF: Human growth factor-like EGF (1107 - 1119)
EGF: EGF-like domain (1126 - 1151)
EGF: EGF-like domain (1175 - 1201)
EGF: EGF-like domain (1339 - 1371)
Notch: LNR domain (1383 - 1418)
Notch: LNR domain (1424 - 1459)
Notch: LNR domain (1465 - 1500)
NOD: NOTCH protein (1505 - 1560)
NODP: NOTCH protein (1576 - 1640)
Ank_2: Ankyrin repeats (3 copies) (1820 - 1900)
Ank_2: Ankyrin repeats (3 copies) (1910 - 2000)
DUF3454: Domain of unknown function (DUF3454) (2225 - 2275)
- 0
- 400
- 800
- 1200
- 1600
- 2000
- 2321 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
neurogenic locus notch homolog protein 3 |
|
NOTCH3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
NOTCH3 | Q9UM47 | NOTCH3 | Homo sapiens | Q9UM47 | 26051713 | |
|
Intra
|
NOTCH3 | Q9UM47 | NOTCH3 | Homo sapiens | Q9UM47 | 26051713 | |
|
Cross
|
NOTCH3 | Q9UM47 | Psma1 | Mus musculus | Q9R1P4 | 17292860 | |
|
Cross
|
NOTCH3 | Q9UM47 | Psma1 | Mus musculus | Q9R1P4 | 17292860 |
Recombinant NOTCH3 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P78009 | Notch 3 Protein, Human (HEK293, Fc) | Q9UM47 (A40-E467) | ≥ 95%, as determined by Bis-Tris PAGE. |
| HY-P78010 | Notch 3 Protein, Human (HEK293, His-Avi) | Q9UM47 (A40-E467) | ≥ 95%, as determined by Bis-Tris PAGE. |
| HY-P700803 | Notch 3 Protein, Human (Biotinylated, HEK293, His-Avi) | Q9UM47 (A40-E467) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P700804 | Notch 3 Protein, Human (HEK293, C-His-Avi) | Q9UM47 (A1378-S1640) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
|
| Lateral Meningocele Syndrome |
|
|
| Myofibromatosis, Infantile, 2 |
|
|
| Migraine With Or Without Aura 1 |
|
|
| Migraine With Aura |
|
|
| Transient Cerebral Ischemia |
|
|
| Mental Depression |
|
|
| Infantile Myofibromatosis |
|
|
| Major Depressive Disorder |
|
|
| Stroke, Ischemic |
|
|
| Vascular Dementia |
|
|
| Meningocele |
|
|
| Cerebrovascular Disease |
|
|
| Migraine Without Aura |
|
|
| Pseudobulbar Palsy |
|
|
| Familial Hemiplegic Migraine |
|
|
| Dementia |
|
|
| Myofibroma |
|
|
| Sneddon Syndrome |
|
|
| Binswanger'S Disease |
|
|
| Cerebral Degeneration |
|
|
| Brain Small Vessel Disease 1 |
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
|
| Brain Small Vessel Disease |
|
|
| Telecanthus |
|
|
| Aortic Valve Disease 1 |
|
|
| Transient Global Amnesia |
|
|
| Leukodystrophy |
|
|
| Alagille Syndrome 1 |
|
|
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
|
| Hajdu-Cheney Syndrome |
|
|
| Retinal Arteries, Tortuosity Of |
|
|
| Cerebral Cavernous Malformations |
|
|
| Hemangioma |
|
|
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
|
| Colorectal Cancer |
|
|
| Adams-Oliver Syndrome |
|
|
| Porencephaly |
|
|
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
|
| Pulmonary Hypertension |
|
|
| Spondylosis |
|
|
| Arteriolosclerosis |
|
|
| Spondylocostal Dysostosis |
|
|
| Precursor T-Cell Acute Lymphoblastic Leukemia |
|
|
| Ptosis |
|
|
| Myopathy |
|
|
| Multiple Sclerosis |
|
|
| Breast Cancer |
|
|
| Vascular Disease |
|
|
| Rhabdomyosarcoma |
|
|
| Ovarian Cancer |
|
|
| Patent Foramen Ovale |
|
|
| Moyamoya Disease 1 |
|
|
| Thrombocytopenia |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | NOTCH3 | VGNC | VGNC:32178 |
| Rattus norvegicus | NOTCH3 | RGD | RGD:620761 |
| Mus musculus | NOTCH3 | MGD | MGI:99460 |
| Felis catus | NOTCH3 | VGNC | VGNC:80641 |
| Canis familiaris | NOTCH3 | VGNC | VGNC:43899 |
| Others | NOTCH3 | NCBI |