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UniProtKB - Q9UM47 (NOTC3_HUMAN)

Entry version 213 (07 Apr 2021)
Sequence version 2 (08 Feb 2011)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

More...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

More...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:
Notch 3 extracellular truncation
Notch 3 intracellular domain
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

More...HGNCi		HGNC:7883, NOTCH3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600276, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UM47

Eukaryotic Pathogen, Vector and Host Database Resources

More...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.

More...GeneReviewsi		NOTCH3

MalaCards human disease database

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

Open Targets

More...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

More...ChEMBLi		CHEMBL3407319

IUPHAR/BPS Guide to PHARMACOLOGY

More...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

Complete GO annotation on QuickGO ...

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