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Entry version 213 (07 Apr 2021)
Sequence version 2 (08 Feb 2011)
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Protein

Neurogenic locus notch homolog protein 3

Gene

NOTCH3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543). 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).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Developmental protein, Receptor
Biological processDifferentiation, Notch signaling pathway, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9UM47

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1912399, Pre-NOTCH Processing in the Endoplasmic Reticulum
R-HSA-1912408, Pre-NOTCH Transcription and Translation
R-HSA-1912420, Pre-NOTCH Processing in Golgi
R-HSA-350054, Notch-HLH transcription pathway
R-HSA-5083630, Defective LFNG causes SCDO3
R-HSA-9013507, NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9013508, NOTCH3 Intracellular Domain Regulates Transcription
R-HSA-9017802, Noncanonical activation of NOTCH3

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q9UM47

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9UM47

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Neurogenic locus notch homolog protein 3
Short name:
Notch 3
Cleaved into the following 2 chains:
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NOTCH3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:7883, NOTCH3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600276, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9UM47

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000074181.8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini40 – 1643ExtracellularSequence analysisAdd BLAST1604
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1644 – 1664HelicalSequence analysisAdd BLAST21
Topological domaini1665 – 2321CytoplasmicSequence analysisAdd BLAST657

Keywords - Cellular componenti

Cell membrane, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1)22 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04423043C → G in CADASIL1. 2 Publications1
Natural variantiVAR_04423149C → F in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs193921045EnsemblClinVar.1
Natural variantiVAR_01287149C → Y in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs193921045EnsemblClinVar.1
Natural variantiVAR_04423254R → C in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs1555730189EnsemblClinVar.1
Natural variantiVAR_04423360S → C in CADASIL1. 2 Publications1
Natural variantiVAR_04423465C → S in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1555730176EnsemblClinVar.1
Natural variantiVAR_04423567C → Y in CADASIL1. 1 Publication1
Natural variantiVAR_01287271W → C in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs28937321EnsemblClinVar.1
Natural variantiVAR_04423676C → R in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1555729610EnsemblClinVar.1
Natural variantiVAR_04423776C → W in CADASIL1. 2 Publications1
Natural variantiVAR_04423877 – 82Missing in CADASIL1. 1 Publication6
Natural variantiVAR_04423980 – 84Missing in CADASIL1. 3 Publications5
Natural variantiVAR_04424087C → R in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1568362232EnsemblClinVar.1
Natural variantiVAR_04424187C → Y in CADASIL1. 1 Publication1
Natural variantiVAR_01287390R → C in CADASIL1. 8 PublicationsCorresponds to variant dbSNP:rs1555729604EnsemblClinVar.1
Natural variantiVAR_04424293C → F in CADASIL1. 3 Publications1
Natural variantiVAR_04424393C → Y in CADASIL1. 1 Publication1
Natural variantiVAR_044244106C → W in CADASIL1. 1 Publication1
Natural variantiVAR_044245108C → W in CADASIL1. 1 Publication1
Natural variantiVAR_044246108C → Y in CADASIL1. 2 Publications1
Natural variantiVAR_012874110R → C in CADASIL1. 7 PublicationsCorresponds to variant dbSNP:rs775836288EnsemblClinVar.1
Natural variantiVAR_012875114 – 120Missing in CADASIL1. 2 Publications7
Natural variantiVAR_044247117C → F in CADASIL1. 4 PublicationsCorresponds to variant dbSNP:rs773539041EnsemblClinVar.1
Natural variantiVAR_044248118S → C in CADASIL1. 1 Publication1
Natural variantiVAR_044249123C → F in CADASIL1. 3 Publications1
Natural variantiVAR_044250123C → Y in CADASIL1. 1 Publication1
Natural variantiVAR_044251128C → Y in CADASIL1. 1 Publication1
Natural variantiVAR_012876133R → C in CADASIL1; no effect on ligand-binding; no effect on cell membrane localization; reduced proteolytic processing. 11 PublicationsCorresponds to variant dbSNP:rs137852642EnsemblClinVar.1
Natural variantiVAR_044252134C → W in CADASIL1. 4 Publications1
Natural variantiVAR_012877141R → C in CADASIL1. 9 PublicationsCorresponds to variant dbSNP:rs1174625611EnsemblClinVar.1
Natural variantiVAR_044253142F → C in CADASIL1. 1 Publication1
Natural variantiVAR_044254144C → F in CADASIL1. 1 Publication1
Natural variantiVAR_044255144C → S in CADASIL1. 3 Publications1
Natural variantiVAR_044256144C → Y in CADASIL1. 3 PublicationsCorresponds to variant dbSNP:rs1568361985EnsemblClinVar.1
Natural variantiVAR_044257145S → C in CADASIL1. 1 Publication1
Natural variantiVAR_012878146C → R in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1555729510EnsemblClinVar.1
Natural variantiVAR_044258149G → C in CADASIL1. 2 Publications1
Natural variantiVAR_044259150Y → C in CADASIL1. 3 Publications1
Natural variantiVAR_044260153 – 155Missing in CADASIL1. 2 Publications3
Natural variantiVAR_012879153R → C in CADASIL1. 8 PublicationsCorresponds to variant dbSNP:rs797045014EnsemblClinVar.1
Natural variantiVAR_044261155C → S in CADASIL1. 1 Publication1
Natural variantiVAR_044262162C → S in CADASIL1. 1 Publication1
Natural variantiVAR_012880169R → C in CADASIL1. 8 PublicationsCorresponds to variant dbSNP:rs28933696EnsemblClinVar.1
Natural variantiVAR_012882171G → C in CADASIL1. 1 Publication1
Natural variantiVAR_044263174C → F in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs1555729486EnsemblClinVar.1
Natural variantiVAR_044264174C → R in CADASIL1. 3 Publications1
Natural variantiVAR_044265174C → Y in CADASIL1. 5 PublicationsCorresponds to variant dbSNP:rs1555729486EnsemblClinVar.1
Natural variantiVAR_044266180S → C in CADASIL1. 1 Publication1
Natural variantiVAR_012883182R → C in CADASIL1. 9 PublicationsCorresponds to variant dbSNP:rs28933697EnsemblClinVar.1
Natural variantiVAR_044267183C → F in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1568361851EnsemblClinVar.1
Natural variantiVAR_044268183C → R in CADASIL1; no effect on ligand-binding; no effect on cell membrane localization; reduced proteolytic processing. 5 Publications1
Natural variantiVAR_044269183C → S in CADASIL1. 3 Publications1
Natural variantiVAR_044270185C → G in CADASIL1. 1 Publication1
Natural variantiVAR_012884185C → R in CADASIL1. 5 PublicationsCorresponds to variant dbSNP:rs1568361844EnsemblClinVar.1
Natural variantiVAR_044271189Y → C in CADASIL1. 1 Publication1
Natural variantiVAR_044272194C → F in CADASIL1. 3 Publications1
Natural variantiVAR_044273194C → R in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs1568361818EnsemblClinVar.1
Natural variantiVAR_044274194C → S in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs1568361818EnsemblClinVar.1
Natural variantiVAR_044275194C → Y in CADASIL1. 1 Publication1
Natural variantiVAR_044276201C → Y in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs1555729468EnsemblClinVar.1
Natural variantiVAR_044277206C → Y in CADASIL1. 1 Publication1
Natural variantiVAR_044278207R → C in CADASIL1. 6 PublicationsCorresponds to variant dbSNP:rs775267348EnsemblClinVar.1
Natural variantiVAR_012885212C → S in CADASIL1. 3 PublicationsCorresponds to variant dbSNP:rs1555729455EnsemblClinVar.1
Natural variantiVAR_044279213R → K in CADASIL1. 1 Publication1
Natural variantiVAR_012886222C → G in CADASIL1. 3 Publications1
Natural variantiVAR_044280222C → Y in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs1555729452EnsemblClinVar.1
Natural variantiVAR_012887224C → Y in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1555729451EnsemblClinVar.1
Natural variantiVAR_044281233C → S in CADASIL1. 1 Publication1
Natural variantiVAR_044282233C → Y in CADASIL1. 2 Publications1
Natural variantiVAR_044283239 – 253Missing in CADASIL1. 2 PublicationsAdd BLAST15
Natural variantiVAR_044284240C → S in CADASIL1. 2 Publications1
Natural variantiVAR_044285245C → R in CADASIL1. 2 Publications1
Natural variantiVAR_044286251C → R in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1568361608EnsemblClinVar.1
Natural variantiVAR_012888258Y → C in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs947976672EnsemblClinVar.1
Natural variantiVAR_044287260C → Y in CADASIL1. 2 Publications1
Natural variantiVAR_044288319A → C in CADASIL1; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_044289332R → C in CADASIL1. 4 PublicationsCorresponds to variant dbSNP:rs137852641EnsemblClinVar.1
Natural variantiVAR_044290335S → C in CADASIL1. 2 Publications1
Natural variantiVAR_044291337Y → C in CADASIL1. 2 Publications1
Natural variantiVAR_044292379C → S in CADASIL1. 2 Publications1
Natural variantiVAR_044293395C → R in CADASIL1. 2 Publications1
Natural variantiVAR_044294420G → C in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs1323608032EnsemblClinVar.1
Natural variantiVAR_044295421R → C in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1555729068EnsemblClinVar.1
Natural variantiVAR_044296428C → S in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs267606915EnsemblClinVar.1
Natural variantiVAR_044297428C → Y in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1568360455EnsemblClinVar.1
Natural variantiVAR_044298440C → G in CADASIL1. 2 Publications1
Natural variantiVAR_044299440C → R in CADASIL1. 2 Publications1
Natural variantiVAR_044300446C → S in CADASIL1. 1 Publication1
Natural variantiVAR_044301449R → C in CADASIL1. 1 Publication1
Natural variantiVAR_044302455C → R in CADASIL1; impaired ligand-binding; strongly reduced signaling activity; no effect on cell membrane localization; reduced proteolytic processing. 2 PublicationsCorresponds to variant dbSNP:rs28933698EnsemblClinVar.1
Natural variantiVAR_044303484C → F in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs1313319587EnsemblClinVar.1
Natural variantiVAR_044304484C → Y in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs1313319587EnsemblClinVar.1
Natural variantiVAR_044305495C → Y in CADASIL1. 2 Publications1
Natural variantiVAR_044306511C → R in CADASIL1. 2 Publications1
Natural variantiVAR_012890542C → Y in CADASIL1. 2 Publications1
Natural variantiVAR_044307544R → C in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs201118034EnsemblClinVar.1
Natural variantiVAR_044308549C → Y in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1555728814EnsemblClinVar.1
Natural variantiVAR_012891558R → C in CADASIL1. 5 PublicationsCorresponds to variant dbSNP:rs75068032EnsemblClinVar.1
Natural variantiVAR_012892578R → C in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs769773673EnsemblClinVar.1
Natural variantiVAR_044309607R → C in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs777751303EnsemblClinVar.1
Natural variantiVAR_072080710Y → C in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs1328784046Ensembl.1
Natural variantiVAR_012893728R → C in CADASIL1. 3 PublicationsCorresponds to variant dbSNP:rs1057519101EnsemblClinVar.1
Natural variantiVAR_044310775C → S in CADASIL1. 1 Publication1
Natural variantiVAR_044311953G → C in CADASIL1. 2 Publications1
Natural variantiVAR_044312984F → C in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs995523352EnsemblClinVar.1
Natural variantiVAR_012894985R → C in CADASIL1. 5 PublicationsCorresponds to variant dbSNP:rs1188569102EnsemblClinVar.1
Natural variantiVAR_0128951006R → C in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1555727942EnsemblClinVar.1
Natural variantiVAR_0443131015C → R in CADASIL1. 1 Publication1
Natural variantiVAR_0443151021Y → C in CADASIL1. 1 PublicationCorresponds to variant dbSNP:rs1167405466EnsemblClinVar.1
Natural variantiVAR_0128961031R → C in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1285584068EnsemblClinVar.1
Natural variantiVAR_0443161063D → C in CADASIL1; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_0128991231R → C in CADASIL1. 3 PublicationsCorresponds to variant dbSNP:rs201680145EnsemblClinVar.1
Natural variantiVAR_0129001261C → R in CADASIL1. 2 Publications1
Natural variantiVAR_0443171261C → Y in CADASIL1. 2 PublicationsCorresponds to variant dbSNP:rs1209610920Ensembl.1
Myofibromatosis, infantile 2 (IMF2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0699271519L → P in IMF2. 1 PublicationCorresponds to variant dbSNP:rs367543285EnsemblClinVar.1
Lateral meningocele syndrome (LMNS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA very rare skeletal disorder with facial anomalies, hypotonia and neurologic dysfunction due to meningocele, a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis.
Related information in OMIM

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
4854

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
NOTCH3

MalaCards human disease database

More...
MalaCardsi
NOTCH3
MIMi125310, phenotype
130720, phenotype
615293, phenotype

Open Targets

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OpenTargetsi
ENSG00000074181

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
136, Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
2591, Infantile myofibromatosis
2789, Lateral meningocele syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31685

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UM47, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3407319

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
2860

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NOTCH3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
322510053

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 39Sequence analysisAdd BLAST39
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000769240 – 2321Neurogenic locus notch homolog protein 3Add BLAST2282
ChainiPRO_00000076931629 – 2321Notch 3 extracellular truncationBy similarityAdd BLAST693
ChainiPRO_00000076941662 – 2321Notch 3 intracellular domainBy similarityAdd BLAST660

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi43 ↔ 55By similarity
Disulfide bondi49 ↔ 65By similarity
Disulfide bondi67 ↔ 76By similarity
Disulfide bondi82 ↔ 93By similarity
Disulfide bondi87 ↔ 106By similarity
Disulfide bondi108 ↔ 117By similarity
Disulfide bondi123 ↔ 134By similarity
Disulfide bondi128 ↔ 144By similarity
Disulfide bondi146 ↔ 155By similarity
Disulfide bondi162 ↔ 174By similarity
Disulfide bondi168 ↔ 183By similarity
Disulfide bondi185 ↔ 194By similarity
Disulfide bondi201 ↔ 212By similarity
Disulfide bondi206 ↔ 222By similarity
Disulfide bondi224 ↔ 233By similarity
Disulfide bondi240 ↔ 251By similarity
Disulfide bondi245 ↔ 260By similarity
Disulfide bondi262 ↔ 271By similarity
Disulfide bondi278 ↔ 291By similarity
Disulfide bondi285 ↔ 300By similarity
Disulfide bondi302 ↔ 311By similarity
Disulfide bondi318 ↔ 329By similarity
Disulfide bondi323 ↔ 338By similarity
Disulfide bondi340 ↔ 349By similarity
Disulfide bondi355 ↔ 366By similarity
Disulfide bondi360 ↔ 377By similarity
Disulfide bondi379 ↔ 388By similarity
Disulfide bondi395 ↔ 408By similarity
Disulfide bondi402 ↔ 417By similarity
Disulfide bondi419 ↔ 428By similarity
Disulfide bondi435 ↔ 446By similarity
Disulfide bondi440 ↔ 455By similarity
Disulfide bondi457 ↔ 466By similarity
Disulfide bondi473 ↔ 484By similarity
Disulfide bondi478 ↔ 493By similarity
Disulfide bondi495 ↔ 504By similarity
Disulfide bondi511 ↔ 522By similarity
Disulfide bondi516 ↔ 531By similarity
Disulfide bondi533 ↔ 542By similarity
Disulfide bondi549 ↔ 559By similarity
Disulfide bondi554 ↔ 568By similarity
Disulfide bondi570 ↔ 579By similarity
Disulfide bondi586 ↔ 597By similarity
Disulfide bondi591 ↔ 606By similarity
Disulfide bondi608 ↔ 617By similarity
Disulfide bondi624 ↔ 634By similarity
Disulfide bondi629 ↔ 643By similarity
Disulfide bondi645 ↔ 654By similarity
Disulfide bondi661 ↔ 672By similarity
Disulfide bondi666 ↔ 681By similarity
Disulfide bondi683 ↔ 692By similarity
Disulfide bondi699 ↔ 709By similarity
Disulfide bondi704 ↔ 718By similarity
Disulfide bondi720 ↔ 729By similarity
Disulfide bondi738 ↔ 749By similarity
Disulfide bondi743 ↔ 758By similarity
Disulfide bondi760 ↔ 769By similarity
Disulfide bondi775 ↔ 786By similarity
Disulfide bondi780 ↔ 796By similarity
Disulfide bondi798 ↔ 807By similarity
Disulfide bondi814 ↔ 826By similarity
Disulfide bondi820 ↔ 835By similarity
Disulfide bondi837 ↔ 846By similarity
Disulfide bondi853 ↔ 864By similarity
Disulfide bondi858 ↔ 873By similarity
Disulfide bondi875 ↔ 884By similarity
Disulfide bondi891 ↔ 901By similarity
Disulfide bondi896 ↔ 910By similarity
Disulfide bondi912 ↔ 921By similarity
Disulfide bondi928 ↔ 939By similarity
Disulfide bondi933 ↔ 948By similarity
Disulfide bondi950 ↔ 959By similarity
Disulfide bondi966 ↔ 977By similarity
Disulfide bondi971 ↔ 986By similarity
Disulfide bondi988 ↔ 997By similarity
Disulfide bondi1004 ↔ 1015By similarity
Disulfide bondi1009 ↔ 1022By similarity
Disulfide bondi1024 ↔ 1033By similarity
Disulfide bondi1040 ↔ 1061Curated
Disulfide bondi1055 ↔ 1070By similarity
Disulfide bondi1072 ↔ 1081By similarity
Disulfide bondi1088 ↔ 1099By similarity
Disulfide bondi1093 ↔ 1108By similarity
Disulfide bondi1110 ↔ 1119By similarity
Disulfide bondi1126 ↔ 1137By similarity
Disulfide bondi1131 ↔ 1146By similarity
Disulfide bondi1148 ↔ 1157By similarity
Disulfide bondi1164 ↔ 1182By similarity
Disulfide bondi1176 ↔ 1191By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi1179N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1193 ↔ 1202By similarity
Disulfide bondi1209 ↔ 1222By similarity
Disulfide bondi1214 ↔ 1232By similarity
Disulfide bondi1234 ↔ 1243By similarity
Disulfide bondi1250 ↔ 1261By similarity
Disulfide bondi1255 ↔ 1275By similarity
Disulfide bondi1277 ↔ 1286By similarity
Disulfide bondi1293 ↔ 1304By similarity
Disulfide bondi1298 ↔ 1313By similarity
Disulfide bondi1315 ↔ 1324By similarity
Glycosylationi1336N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1339 ↔ 1350By similarity
Disulfide bondi1344 ↔ 1361By similarity
Disulfide bondi1363 ↔ 1372By similarity
Disulfide bondi1387 ↔ 1410By similarity
Disulfide bondi1392 ↔ 1405By similarity
Disulfide bondi1401 ↔ 1417By similarity
Disulfide bondi1428 ↔ 1451By similarity
Disulfide bondi1433 ↔ 1446By similarity
Glycosylationi1438N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1442 ↔ 1458By similarity
Disulfide bondi1467 ↔ 1493By similarity
Disulfide bondi1475 ↔ 1488By similarity
Disulfide bondi1484 ↔ 1500By similarity
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2174Omega-N-methylarginineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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-alpha 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.1 Publication
Phosphorylated.By similarity
Hydroxylated by HIF1AN.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei1571 – 1572Cleavage; by furin-like proteaseBy similarity2

Keywords - PTMi

Disulfide bond, Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UM47

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UM47

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9UM47

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9UM47

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UM47

PeptideAtlas

More...
PeptideAtlasi
Q9UM47

PRoteomics IDEntifications database

More...
PRIDEi
Q9UM47

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85176

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9UM47, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UM47

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UM47

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed in fetal and adult tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000074181, Expressed in vagina and 231 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UM47, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UM47, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000074181, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer of a C-terminal fragment N(TM) and a N-terminal fragment N(EC) which are probably linked by disulfide bonds (By similarity).

Interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH3.

Interacts with PSMA1.

Interacts with HIF1AN.

By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
110916, 85 interactors

Database of interacting proteins

More...
DIPi
DIP-39827N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q9UM47

Protein interaction database and analysis system

More...
IntActi
Q9UM47, 46 interactors

Molecular INTeraction database

More...
MINTi
Q9UM47

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000263388

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9UM47

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9UM47, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

12321
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9UM47

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini40 – 77EGF-like 1PROSITE-ProRule annotationAdd BLAST38
Domaini78 – 118EGF-like 2PROSITE-ProRule annotationAdd BLAST41
Domaini119 – 156EGF-like 3PROSITE-ProRule annotationAdd BLAST38
Domaini158 – 195EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST38
Domaini197 – 234EGF-like 5PROSITE-ProRule annotationAdd BLAST38
Domaini236 – 272EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini274 – 312EGF-like 7PROSITE-ProRule annotationAdd BLAST39
Domaini314 – 350EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini351 – 389EGF-like 9PROSITE-ProRule annotationAdd BLAST39
Domaini391 – 429EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini431 – 467EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini469 – 505EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini507 – 543EGF-like 13; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini545 – 580EGF-like 14; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini582 – 618EGF-like 15; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini620 – 655EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini657 – 693EGF-like 17; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini695 – 730EGF-like 18PROSITE-ProRule annotationAdd BLAST36
Domaini734 – 770EGF-like 19PROSITE-ProRule annotationAdd BLAST37
Domaini771 – 808EGF-like 20PROSITE-ProRule annotationAdd BLAST38
Domaini810 – 847EGF-like 21; calcium-bindingPROSITE-ProRule annotationAdd BLAST38
Domaini849 – 885EGF-like 22; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini887 – 922EGF-like 23; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini924 – 960EGF-like 24PROSITE-ProRule annotationAdd BLAST37
Domaini962 – 998EGF-like 25PROSITE-ProRule annotationAdd BLAST37
Domaini1000 – 1034EGF-like 26PROSITE-ProRule annotationAdd BLAST35
Domaini1036 – 1082EGF-like 27CuratedAdd BLAST47
Domaini1084 – 1120EGF-like 28PROSITE-ProRule annotationAdd BLAST37
Domaini1122 – 1158EGF-like 29; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini1160 – 1203EGF-like 30; calcium-bindingPROSITE-ProRule annotationAdd BLAST44
Domaini1205 – 1244EGF-like 31PROSITE-ProRule annotationAdd BLAST40
Domaini1246 – 1287EGF-like 32PROSITE-ProRule annotationAdd BLAST42
Domaini1289 – 1325EGF-like 33PROSITE-ProRule annotationAdd BLAST37
Domaini1335 – 1373EGF-like 34PROSITE-ProRule annotationAdd BLAST39
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati1387 – 1427LNR 1Add BLAST41
Repeati1428 – 1458LNR 2Add BLAST31
Repeati1467 – 1505LNR 3Add BLAST39
Repeati1838 – 1867ANK 1Add BLAST30
Repeati1871 – 1901ANK 2Add BLAST31
Repeati1905 – 1934ANK 3Add BLAST30
Repeati1938 – 1967ANK 4Add BLAST30
Repeati1971 – 2000ANK 5Add BLAST30

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The EGF-like domains 10 and 11 are required for binding the ligands JAG1 and DLL1.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the NOTCH family.Curated

Keywords - Domaini

ANK repeat, EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1217, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160234

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000576_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UM47

Identification of Orthologs from Complete Genome Data

More...
OMAi
PQCQHRS

Database of Orthologous Groups

More...
OrthoDBi
7525at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UM47

TreeFam database of animal gene trees

More...
TreeFami
TF351641

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002110, Ankyrin_rpt
IPR020683, Ankyrin_rpt-contain_dom
IPR036770, Ankyrin_rpt-contain_sf
IPR024600, DUF3454_notch
IPR001881, EGF-like_Ca-bd_dom
IPR013032, EGF-like_CS
IPR000742, EGF-like_dom
IPR000152, EGF-type_Asp/Asn_hydroxyl_site
IPR018097, EGF_Ca-bd_CS
IPR009030, Growth_fac_rcpt_cys_sf
IPR008297, Notch
IPR035993, Notch-like_dom_sf
IPR022331, Notch_3
IPR000800, Notch_dom
IPR010660, Notch_NOD_dom
IPR011656, Notch_NODP_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12796, Ank_2, 2 hits
PF11936, DUF3454, 1 hit
PF00008, EGF, 19 hits
PF07645, EGF_CA, 5 hits
PF12661, hEGF, 3 hits
PF06816, NOD, 1 hit
PF07684, NODP, 1 hit
PF00066, Notch, 3 hits

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF002279, Notch, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01452, LNOTCHREPEAT
PR01986, NOTCH3

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00248, ANK, 6 hits
SM01334, DUF3454, 1 hit
SM00181, EGF, 34 hits
SM00179, EGF_CA, 31 hits
SM00004, NL, 3 hits
SM01338, NOD, 1 hit
SM01339, NODP, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48403, SSF48403, 1 hit
SSF57184, SSF57184, 4 hits
SSF90193, SSF90193, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297, ANK_REP_REGION, 1 hit
PS50088, ANK_REPEAT, 4 hits
PS00010, ASX_HYDROXYL, 18 hits
PS00022, EGF_1, 33 hits
PS01186, EGF_2, 25 hits
PS50026, EGF_3, 34 hits
PS01187, EGF_CA, 16 hits
PS50258, LNR, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q9UM47-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGPGARGRRR RRRPMSPPPP PPPVRALPLL LLLAGPGAAA PPCLDGSPCA
60 70 80 90 100
NGGRCTQLPS REAACLCPPG WVGERCQLED PCHSGPCAGR GVCQSSVVAG
110 120 130 140 150
TARFSCRCPR GFRGPDCSLP DPCLSSPCAH GARCSVGPDG RFLCSCPPGY
160 170 180 190 200
QGRSCRSDVD ECRVGEPCRH GGTCLNTPGS FRCQCPAGYT GPLCENPAVP
210 220 230 240 250
CAPSPCRNGG TCRQSGDLTY DCACLPGFEG QNCEVNVDDC PGHRCLNGGT
260 270 280 290 300
CVDGVNTYNC QCPPEWTGQF CTEDVDECQL QPNACHNGGT CFNTLGGHSC
310 320 330 340 350
VCVNGWTGES CSQNIDDCAT AVCFHGATCH DRVASFYCAC PMGKTGLLCH
360 370 380 390 400
LDDACVSNPC HEDAICDTNP VNGRAICTCP PGFTGGACDQ DVDECSIGAN
410 420 430 440 450
PCEHLGRCVN TQGSFLCQCG RGYTGPRCET DVNECLSGPC RNQATCLDRI
460 470 480 490 500
GQFTCICMAG FTGTYCEVDI DECQSSPCVN GGVCKDRVNG FSCTCPSGFS
510 520 530 540 550
GSTCQLDVDE CASTPCRNGA KCVDQPDGYE CRCAEGFEGT LCDRNVDDCS
560 570 580 590 600
PDPCHHGRCV DGIASFSCAC APGYTGTRCE SQVDECRSQP CRHGGKCLDL
610 620 630 640 650
VDKYLCRCPS GTTGVNCEVN IDDCASNPCT FGVCRDGINR YDCVCQPGFT
660 670 680 690 700
GPLCNVEINE CASSPCGEGG SCVDGENGFR CLCPPGSLPP LCLPPSHPCA
710 720 730 740 750
HEPCSHGICY DAPGGFRCVC EPGWSGPRCS QSLARDACES QPCRAGGTCS
760 770 780 790 800
SDGMGFHCTC PPGVQGRQCE LLSPCTPNPC EHGGRCESAP GQLPVCSCPQ
810 820 830 840 850
GWQGPRCQQD VDECAGPAPC GPHGICTNLA GSFSCTCHGG YTGPSCDQDI
860 870 880 890 900
NDCDPNPCLN GGSCQDGVGS FSCSCLPGFA GPRCARDVDE CLSNPCGPGT
910 920 930 940 950
CTDHVASFTC TCPPGYGGFH CEQDLPDCSP SSCFNGGTCV DGVNSFSCLC
960 970 980 990 1000
RPGYTGAHCQ HEADPCLSRP CLHGGVCSAA HPGFRCTCLE SFTGPQCQTL
1010 1020 1030 1040 1050
VDWCSRQPCQ NGGRCVQTGA YCLCPPGWSG RLCDIRSLPC REAAAQIGVR
1060 1070 1080 1090 1100
LEQLCQAGGQ CVDEDSSHYC VCPEGRTGSH CEQEVDPCLA QPCQHGGTCR
1110 1120 1130 1140 1150
GYMGGYMCEC LPGYNGDNCE DDVDECASQP CQHGGSCIDL VARYLCSCPP
1160 1170 1180 1190 1200
GTLGVLCEIN EDDCGPGPPL DSGPRCLHNG TCVDLVGGFR CTCPPGYTGL
1210 1220 1230 1240 1250
RCEADINECR SGACHAAHTR DCLQDPGGGF RCLCHAGFSG PRCQTVLSPC
1260 1270 1280 1290 1300
ESQPCQHGGQ CRPSPGPGGG LTFTCHCAQP FWGPRCERVA RSCRELQCPV
1310 1320 1330 1340 1350
GVPCQQTPRG PRCACPPGLS GPSCRSFPGS PPGASNASCA AAPCLHGGSC
1360 1370 1380 1390 1400
RPAPLAPFFR CACAQGWTGP RCEAPAAAPE VSEEPRCPRA ACQAKRGDQR
1410 1420 1430 1440 1450
CDRECNSPGC GWDGGDCSLS VGDPWRQCEA LQCWRLFNNS RCDPACSSPA
1460 1470 1480 1490 1500
CLYDNFDCHA GGRERTCNPV YEKYCADHFA DGRCDQGCNT EECGWDGLDC
1510 1520 1530 1540 1550
ASEVPALLAR GVLVLTVLLP PEELLRSSAD FLQRLSAILR TSLRFRLDAH
1560 1570 1580 1590 1600
GQAMVFPYHR PSPGSEPRAR RELAPEVIGS VVMLEIDNRL CLQSPENDHC
1610 1620 1630 1640 1650
FPDAQSAADY LGALSAVERL DFPYPLRDVR GEPLEPPEPS VPLLPLLVAG
1660 1670 1680 1690 1700
AVLLLVILVL GVMVARRKRE HSTLWFPEGF SLHKDVASGH KGRREPVGQD
1710 1720 1730 1740 1750
ALGMKNMAKG ESLMGEVATD WMDTECPEAK RLKVEEPGMG AEEAVDCRQW
1760 1770 1780 1790 1800
TQHHLVAADI RVAPAMALTP PQGDADADGM DVNVRGPDGF TPLMLASFCG
1810 1820 1830 1840 1850
GALEPMPTEE DEADDTSASI ISDLICQGAQ LGARTDRTGE TALHLAARYA
1860 1870 1880 1890 1900
RADAAKRLLD AGADTNAQDH SGRTPLHTAV TADAQGVFQI LIRNRSTDLD
1910 1920 1930 1940 1950
ARMADGSTAL ILAARLAVEG MVEELIASHA DVNAVDELGK SALHWAAAVN
1960 1970 1980 1990 2000
NVEATLALLK NGANKDMQDS KEETPLFLAA REGSYEAAKL LLDHFANREI
2010 2020 2030 2040 2050
TDHLDRLPRD VAQERLHQDI VRLLDQPSGP RSPPGPHGLG PLLCPPGAFL
2060 2070 2080 2090 2100
PGLKAAQSGS KKSRRPPGKA GLGPQGPRGR GKKLTLACPG PLADSSVTLS
2110 2120 2130 2140 2150
PVDSLDSPRP FGGPPASPGG FPLEGPYAAA TATAVSLAQL GGPGRAGLGR
2160 2170 2180 2190 2200
QPPGGCVLSL GLLNPVAVPL DWARLPPPAP PGPSFLLPLA PGPQLLNPGT
2210 2220 2230 2240 2250
PVSPQERPPP YLAVPGHGEE YPAAGAHSSP PKARFLRVPS EHPYLTPSPE
2260 2270 2280 2290 2300
SPEHWASPSP PSLSDWSEST PSPATATGAM ATTTGALPAQ PLPLSVPSSL
2310 2320
AQAQTQLGPQ PEVTPKRQVL A
Length:2,321
Mass (Da):243,631
Last modified:February 8, 2011 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3E70EC12A59CD638
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R3C9M0R3C9_HUMAN
Neurogenic locus notch homolog prot...
NOTCH3
1,286Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QX38M0QX38_HUMAN
Neurogenic locus notch homolog prot...
NOTCH3
177Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QZN3M0QZN3_HUMAN
Neurogenic locus notch homolog prot...
NOTCH3
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04423043C → G in CADASIL1. 2 Publications1
Natural variantiVAR_04423149C → F in CADASIL1. 2 Publications