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Details on Person UniProt:Q9UM47 NOTCH3
| Class:Id | ReferenceGeneProduct:60524 |
|---|---|
| _chainChangeLog | signal peptide:1-39 added on Fri February 6 2015;chain:40-2321 added on Fri February 6 2015;chain:1629-2321 added on Fri February 6 2015;chain:1662-2321 added on Fri February 6 2015 |
| _displayName | UniProt:Q9UM47 NOTCH3 |
| _timestamp | 2026-02-20 23:08:26 |
| chain | signal peptide:1-39 chain:40-2321 chain:1629-2321 chain:1662-2321 |
| checksum | 3E70EC12A59CD638 |
| comment | FUNCTION Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543, PubMed:14714274). Upon ligand activation through the released notch intracellular domain (NICD), it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity).SUBUNIT Heterodimer of a C-terminal fragment N(TM) and a N-terminal fragment N(EC) which are probably linked by disulfide bonds (PubMed:19417009). Interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH3. Interacts with PSMA1. Interacts with HIF1AN.INTERACTION Following proteolytical processing NICD is translocated to the nucleus.TISSUE SPECIFICITY Ubiquitously expressed in fetal and adult tissues.DOMAIN The EGF-like domains 10 and 11 are required for binding the ligands JAG1 and DLL1.PTM Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form. Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by TNF converting enzyme (TACE) to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT). This fragment is then cleaved by presenilin dependent gamma-secretase to release a notch-derived peptide containing the intracellular domain (NICD) from the membrane.PTM Phosphorylated.PTM Hydroxylated by HIF1AN.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The gene represented in this entry may be involved in disease pathogenesis.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease may be caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the NOTCH family. |
| description | recommendedName: Neurogenic locus notch homolog protein 3 shortName: Notch 3 component recommendedName: Notch 3 extracellular truncation /component component recommendedName: Notch 3 intracellular domain /component |
| geneName | NOTCH3 |
| identifier | Q9UM47 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Activator ANK repeat Cell membrane Developmental protein Differentiation Disease variant Disulfide bond EGF-like domain Glycoprotein Membrane Methylation Notch signaling pathway Nucleus Phosphoprotein Proteomics identification Receptor Reference proteome Repeat Signal Transcription Transcription regulation Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9983091] Weiser, Joel, 2026-02-20 |
| name | NOTCH3 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:1606769] ENSEMBL:ENSG00000074181 NOTCH3 [Homo sapiens] |
| secondaryIdentifier | NOTC3_HUMAN Q9UEB3 Q9UPL3 Q9Y6L8 |
| sequenceLength | 2321 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:156995] NOTCH3(1572-2321) [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:157070] NOTCH3(40-2321) [Golgi lumen] [Homo sapiens] [EntityWithAccessionedSequence:157102] Pre-NOTCH3 [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:157116] NOTCH3(40-1571) [Golgi lumen] [Homo sapiens] [EntityWithAccessionedSequence:157203] NEXT3 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:157220] NOTCH3(40-1571) [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:157231] NOTCH3(1572-2321) [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:157639] NOTCH3(40-1628) [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:157647] NICD3 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:157657] NOTCH3(1629-1661) [plasma membrane] [Homo sapiens] |
| (referenceSequence) | [ModifiedResidue:1467297] O-fucosyl-L-threonine at 748 [ModifiedResidue:1467298] O-fucosyl-L-threonine at 445 [ModifiedResidue:1467305] O-glucosyl-L-serine at 513 [ModifiedResidue:1467316] O-glucosyl-L-serine at 1252 [ModifiedResidue:1467317] O-fucosyl-L-threonine at 211 [ModifiedResidue:1467326] O-glucosyl-L-serine at 663 [ModifiedResidue:1467335] O-fucosyl-L-serine at 671 [ModifiedResidue:1467342] O-glucosyl-L-serine at 125 [ModifiedResidue:1467345] O-glucosyl-L-serine at 437 [ModifiedResidue:1467347] O-glucosyl-L-serine at 588 |
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No pathways have been reviewed or authored by UniProt:Q9UM47 NOTCH3 (60524)
