UniProtKB - Q9UM47 (NOTC3_HUMAN)
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>sp|Q9UM47|NOTC3_HUMAN Neurogenic locus notch homolog protein 3 OS=Homo sapiens OX=9606 GN=NOTCH3 PE=1 SV=2 MGPGARGRRRRRRPMSPPPPPPPVRALPLLLLLAGPGAAAPPCLDGSPCANGGRCTQLPS REAACLCPPGWVGERCQLEDPCHSGPCAGRGVCQSSVVAGTARFSCRCPRGFRGPDCSLP DPCLSSPCAHGARCSVGPDGRFLCSCPPGYQGRSCRSDVDECRVGEPCRHGGTCLNTPGS FRCQCPAGYTGPLCENPAVPCAPSPCRNGGTCRQSGDLTYDCACLPGFEGQNCEVNVDDC PGHRCLNGGTCVDGVNTYNCQCPPEWTGQFCTEDVDECQLQPNACHNGGTCFNTLGGHSC VCVNGWTGESCSQNIDDCATAVCFHGATCHDRVASFYCACPMGKTGLLCHLDDACVSNPC HEDAICDTNPVNGRAICTCPPGFTGGACDQDVDECSIGANPCEHLGRCVNTQGSFLCQCG RGYTGPRCETDVNECLSGPCRNQATCLDRIGQFTCICMAGFTGTYCEVDIDECQSSPCVN GGVCKDRVNGFSCTCPSGFSGSTCQLDVDECASTPCRNGAKCVDQPDGYECRCAEGFEGT LCDRNVDDCSPDPCHHGRCVDGIASFSCACAPGYTGTRCESQVDECRSQPCRHGGKCLDL VDKYLCRCPSGTTGVNCEVNIDDCASNPCTFGVCRDGINRYDCVCQPGFTGPLCNVEINE CASSPCGEGGSCVDGENGFRCLCPPGSLPPLCLPPSHPCAHEPCSHGICYDAPGGFRCVC EPGWSGPRCSQSLARDACESQPCRAGGTCSSDGMGFHCTCPPGVQGRQCELLSPCTPNPC EHGGRCESAPGQLPVCSCPQGWQGPRCQQDVDECAGPAPCGPHGICTNLAGSFSCTCHGG YTGPSCDQDINDCDPNPCLNGGSCQDGVGSFSCSCLPGFAGPRCARDVDECLSNPCGPGT CTDHVASFTCTCPPGYGGFHCEQDLPDCSPSSCFNGGTCVDGVNSFSCLCRPGYTGAHCQ HEADPCLSRPCLHGGVCSAAHPGFRCTCLESFTGPQCQTLVDWCSRQPCQNGGRCVQTGA YCLCPPGWSGRLCDIRSLPCREAAAQIGVRLEQLCQAGGQCVDEDSSHYCVCPEGRTGSH CEQEVDPCLAQPCQHGGTCRGYMGGYMCECLPGYNGDNCEDDVDECASQPCQHGGSCIDL VARYLCSCPPGTLGVLCEINEDDCGPGPPLDSGPRCLHNGTCVDLVGGFRCTCPPGYTGL RCEADINECRSGACHAAHTRDCLQDPGGGFRCLCHAGFSGPRCQTVLSPCESQPCQHGGQ CRPSPGPGGGLTFTCHCAQPFWGPRCERVARSCRELQCPVGVPCQQTPRGPRCACPPGLS GPSCRSFPGSPPGASNASCAAAPCLHGGSCRPAPLAPFFRCACAQGWTGPRCEAPAAAPE VSEEPRCPRAACQAKRGDQRCDRECNSPGCGWDGGDCSLSVGDPWRQCEALQCWRLFNNS RCDPACSSPACLYDNFDCHAGGRERTCNPVYEKYCADHFADGRCDQGCNTEECGWDGLDC ASEVPALLARGVLVLTVLLPPEELLRSSADFLQRLSAILRTSLRFRLDAHGQAMVFPYHR PSPGSEPRARRELAPEVIGSVVMLEIDNRLCLQSPENDHCFPDAQSAADYLGALSAVERL DFPYPLRDVRGEPLEPPEPSVPLLPLLVAGAVLLLVILVLGVMVARRKREHSTLWFPEGF SLHKDVASGHKGRREPVGQDALGMKNMAKGESLMGEVATDWMDTECPEAKRLKVEEPGMG AEEAVDCRQWTQHHLVAADIRVAPAMALTPPQGDADADGMDVNVRGPDGFTPLMLASFCG GALEPMPTEEDEADDTSASIISDLICQGAQLGARTDRTGETALHLAARYARADAAKRLLD AGADTNAQDHSGRTPLHTAVTADAQGVFQILIRNRSTDLDARMADGSTALILAARLAVEG MVEELIASHADVNAVDELGKSALHWAAAVNNVEATLALLKNGANKDMQDSKEETPLFLAA REGSYEAAKLLLDHFANREITDHLDRLPRDVAQERLHQDIVRLLDQPSGPRSPPGPHGLG PLLCPPGAFLPGLKAAQSGSKKSRRPPGKAGLGPQGPRGRGKKLTLACPGPLADSSVTLS PVDSLDSPRPFGGPPASPGGFPLEGPYAAATATAVSLAQLGGPGRAGLGRQPPGGCVLSL GLLNPVAVPLDWARLPPPAPPGPSFLLPLAPGPQLLNPGTPVSPQERPPPYLAVPGHGEE YPAAGAHSSPPKARFLRVPSEHPYLTPSPESPEHWASPSPPSLSDWSESTPSPATATGAM ATTTGALPAQPLPLSVPSSLAQAQTQLGPQPEVTPKRQVLACommunity curation ()Add a publicationFeedback
Neurogenic locus notch homolog protein 3
NOTCH3
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>Select a section on the left to see content.
<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
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.29"CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk."
Peters N., Opherk C., Zacherle S., Capell A., Gempel P., Dichgans M.
Exp. Cell Res. 299:454-464(2004) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CADASIL1 CYS-133; SER-183 AND ARG-455, FUNCTION, SUBCELLULAR LOCATION, LIGAND-BINDING DOMAIN, PROTEOLYTIC PROCESSING.
<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
- cadherin binding Source: BHF-UCLInferred from high throughput direct assayi
- "E-cadherin interactome complexity and robustness resolved by quantitative proteomics."
Guo Z., Neilson L.J., Zhong H., Murray P.S., Zanivan S., Zaidel-Bar R.
Sci Signal 7:rs7-rs7(2014) [PubMed] [Europe PMC] [Abstract]
- calcium ion binding Source: InterPro
- identical protein binding Source: IntAct
<p>Inferred from Physical Interaction</p>
<p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ipi">GO evidence code guide</a></p>
Inferred from physical interactioni
- "Insights into Autoregulation of Notch3 from Structural and Functional Studies of Its Negative Regulatory Region."
Xu X., Choi S.H., Hu T., Tiyanont K., Habets R., Groot A.J., Vooijs M., Aster J.C., Chopra R., Fryer C., Blacklow S.C.
Structure 23:1227-1235(2015) [PubMed] [Europe PMC] [Abstract]
- signaling receptor activity Source: UniProtKB
<p>Inferred from Mutant Phenotype</p>
<p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p>
Inferred from mutant phenotypei
- Ref.29"CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk."
Peters N., Opherk C., Zacherle S., Capell A., Gempel P., Dichgans M.
Exp. Cell Res. 299:454-464(2004) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CADASIL1 CYS-133; SER-183 AND ARG-455, FUNCTION, SUBCELLULAR LOCATION, LIGAND-BINDING DOMAIN, PROTEOLYTIC PROCESSING.
GO - Biological processi
- axon guidance Source: GO_Central
<p>Inferred from Biological aspect of Ancestor</p>
<p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p>
Inferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- negative regulation of Notch signaling pathway Source: Reactome
- Notch signaling pathway Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- positive regulation of transcription of Notch receptor target Source: Reactome
- regulation of developmental process Source: InterPro
- transcription initiation from RNA polymerase II promoter Source: Reactome
<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 function | Activator, Developmental protein, Receptor |
Biological process | Differentiation, 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 3Short 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>Organismi | Homo 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 identifieri | 9606 [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 lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › 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 |
|
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
Plasma membrane
- Cell membrane 1 Publication
Manual assertion based on experiment ini
- Ref.29"CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk."
Peters N., Opherk C., Zacherle S., Capell A., Gempel P., Dichgans M.
Exp. Cell Res. 299:454-464(2004) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CADASIL1 CYS-133; SER-183 AND ARG-455, FUNCTION, SUBCELLULAR LOCATION, LIGAND-BINDING DOMAIN, PROTEOLYTIC PROCESSING.
- Cell membrane 1 Publication
Nucleus
Note: Following proteolytical processing NICD is translocated to the nucleus.
Cytoskeleton
- actin cytoskeleton Source: HPA
Cytosol
- cytosol Source: HPA
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
Extracellular region or secreted
- extracellular region Source: Reactome
Golgi apparatus
- Golgi membrane Source: Reactome
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- plasma membrane Source: UniProtKB
<p>Inferred from Direct Assay</p>
<p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p>
Inferred from direct assayi
- Ref.29"CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk."
Peters N., Opherk C., Zacherle S., Capell A., Gempel P., Dichgans M.
Exp. Cell Res. 299:454-464(2004) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CADASIL1 CYS-133; SER-183 AND ARG-455, FUNCTION, SUBCELLULAR LOCATION, LIGAND-BINDING DOMAIN, PROTEOLYTIC PROCESSING.
- plasma membrane Source: UniProtKB
<p>Inferred from Direct Assay</p>
<p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p>
Inferred from direct assayi
Other locations
- cell surface Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- integral component of membrane Source: UniProtKB-KW
- receptor complex Source: MGIInferred from direct assayi
- "Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins."
Ghai R., Bugarcic A., Liu H., Norwood S.J., Skeldal S., Coulson E.J., Li S.S., Teasdale R.D., Collins B.M.
Proc Natl Acad Sci U S A 110:E643-52(2013) [PubMed] [Europe PMC] [Abstract]
- cell surface Source: GO_CentralInferred from biological aspect of ancestori
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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 domaini | 40 – 1643 | ExtracellularSequence analysisAdd BLAST | 1604 | |
<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>Transmembranei | 1644 – 1664 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1665 – 2321 | CytoplasmicSequence analysisAdd BLAST | 657 |
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 PublicationsManual assertion based on experiment ini
- Ref.12"Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients."
Joutel A., Vahedi K., Corpechot C., Troesch A., Chabriat H., Vayssiere C., Cruaud C., Maciazek J., Weissenbach J., Bousser M.-G., Bach J.-F., Tournier-Lasserve E.
Lancet 350:1511-1515(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CADASIL1 TYR-49; CYS-71; CYS-90; CYS-110; CYS-133; CYS-141; ARG-146; CYS-153; CYS-169; CYS-171; CYS-182; ARG-185; SER-212; GLY-222; TYR-224; CYS-258; TYR-542; CYS-558; CYS-578; CYS-728; CYS-985; CYS-1006; CYS-1031; CYS-1231 AND ARG-1261, VARIANTS ARG-170; LEU-496; GLN-1133; MET-1183 AND VAL-2223. - Ref.13"Quantitative MRI in CADASIL: correlation with disability and cognitive performance."
Dichgans M., Filippi M., Bruening R., Iannucci G., Berchtenbreiter C., Minicucci L., Uttner I., Crispin A., Ludwig H., Gasser T., Yousry T.A.
Neurology 52:1361-1367(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CADASIL1 CYS-90; PHE-117; CYS-133; CYS-141; CYS-169; TYR-174; CYS-182 AND ARG-183. - Ref.14"Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group."
Dutch CADASIL research group
Lesnik Oberstein S.A.J., Ferrari M.D., Bakker E., van Gestel J., Kneppers A.L.J., Frants R.R., Breuning M.H., Haan J.
Neurology 52:1913-1915(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CADASIL1 CYS-133; CYS-141; CYS-153; CYS-182; CYS-207; CYS-544 AND ARG-1015. - Ref.15"Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains."
Dichgans M., Ludwig H., Mueller-Hoecker J., Messerschmidt A., Gasser T.
Eur. J. Hum. Genet. 8:280-285(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CADASIL1 80-ASP--SER-84 DEL; CYS-90; PHE-93; CYS-110; PHE-117; PHE-123; CYS-133; CYS-141; SER-144; TYR-144; CYS-150; 153-ARG--CYS-155 DEL; CYS-153; CYS-169; TYR-174; CYS-182; ARG-183; SER-183; ARG-185 AND PHE-194. - Ref.16"Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree."
Grigg R., Lea R., Sullivan A.A., Curtain R., MacMillian J., Griffiths L.
Hum. Mutat. 16:449-450(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CADASIL1 PHE-144. - Ref.17"Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content."
Escary J.-L., Cecillon M., Maciazek J., Lathrop M., Tournier-Lasserve E., Joutel A.
Hum. Mutat. 16:518-526(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CADASIL1 TYR-49; CYS-54; CYS-90; CYS-110; 114-GLY--PRO-120 DEL; TYR-123; CYS-133; CYS-141; ARG-146; CYS-153; SER-162; CYS-169; TYR-174; CYS-180; CYS-182; ARG-185; TYR-194; TYR-206; CYS-207; SER-212; GLY-222; TYR-224; CYS-258; TYR-542; CYS-558; CYS-578; CYS-607; CYS-728; CYS-984; CYS-985; CYS-1006; CYS-1031; CYS-1231 AND ARG-1261. - Ref.18"Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL."
Joutel A., Chabriat H., Vahedi K., Domenga V., Vayssiere C., Ruchoux M.M., Lucas C., Leys D., Bousser M.-G., Tournier-Lasserve E.
Neurology 54:1874-1875(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CADASIL1 114-GLY--PRO-120 DEL. - Ref.19"A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings."
Oliveri R.L., Muglia M., De Stefano N., Mazzei R., Labate A., Conforti F.L., Patitucci A., Gabriele A.L., Tagarelli G., Magariello A., Zappia M., Gambardella A., Federico A., Quattrone A.
Arch. Neurol. 58:1418-1422(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CADASIL1 CYS-332. - Ref.20"Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis."
Joutel A., Favrole P., Labauge P., Chabriat H., Lescoat C., Andreux F., Domenga V., Cecillon M., Vahedi K., Ducros A., Cave-Riant F., Bousser M.G., Tournier-Lasserve E.
Lancet 358:2049-2051(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CADASIL1 CYS-110; CYS-133; TRP-134; CYS-141; CYS-153; CYS-182; GLY-185; CYS-207; SER-212; GLY-222; SER-428; CYS-558; CYS-985 AND CYS-1063. - Ref.21"Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL."
Feuerhake F., Volk B., Ostertag C.B., Jungling F.D., Kassubek J., Orszagh M., Dichgans M.
Acta Neuropathol. 103:188-192(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CADASIL1 TRP-134. - Ref.22"CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia."
Kalimo H., Ruchoux M.-M., Viitanen M., Kalaria R.N.
Brain Pathol. 12:371-384(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CADASIL1 ARG-76; TYR-93; TYR-128; CYS-142; ARG-194; TYR-222; SER-233; ARG-251; CYS-420; GLY-440; CYS-449; CYS-953 AND CYS-1021. - Ref.23"C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke."
Arboleda-Velasquez J.F., Lopera F., Lopez E., Frosch M.P., Sepulveda-Falla D., Gutierrez J.E., Vargas S., Medina M., Martinez De Arrieta C., Lebo R.V., Slaugenhaupt S.A., Betensky R.A., Villegas A., Arcos-Burgos M., Rivera D., Restrepo J.C., Kosik K.S.
Neurology 59:277-279(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CADASIL1 ARG-455. - Ref.24"A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient."
Moon S.-Y., Kim H.-Y., Seok J.-I., Kwon J.-C., Ki C.-S., Kim J.-W., Suh Y.-L., Na D.L.
J. Korean Med. Sci. 18:141-144(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CADASIL1 TYR-67. - Ref.25"Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis."
Santa Y., Uyama E., Chui D.H., Arima M., Kotorii S., Takahashi K., Tabira T.
J. Neurol. Sci. 212:79-84(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CADASIL1 CYS-90; CYS-133; CYS-169; ARG-174; PHE-174 AND LYS-213. - Ref.26"The influence of genetic and cardiovascular risk factors on the CADASIL phenotype."
Singhal S., Bevan S., Barrick T., Rich P., Markus H.S.
Brain 127:2031-2038(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CADASIL1 ARG-76; CYS-90; CYS-110; CYS-141; CYS-153; CYS-169; CYS-182; ARG-183; CYS-189; SER-194; CYS-207; ARG-251; CYS-332; GLY-440; CYS-607; CYS-953 AND CYS-1231. - Ref.27"Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients."
Opherk C., Peters N., Herzog J., Luedtke R., Dichgans M.
Brain 127:2533-2539(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CADASIL1 GLY-43; PHE-49; CYS-60; SER-65; TRP-76; 77-GLN--CYS-82 DEL; 80-ASP--SER-84 DEL; ARG-87; TYR-87; CYS-90; PHE-93; TRP-106; TYR-108; CYS-110; PHE-117; PHE-123; CYS-133; TRP-134; CYS-141; SER-144; TYR-144; CYS-145; CYS-149; CYS-150; 153-ARG--155-CYS DEL; CYS-153; SER-155; CYS-169; ARG-174; TYR-174; CYS-182; ARG-183; SER-183; PHE-183; ARG-185; PHE-194; TYR-201; CYS-207; TYR-233; 239-ASP--ASP-253 DEL; SER-240; ARG-245; TYR-260; CYS-332; CYS-335; CYS-337; SER-379; ARG-395; CYS-421; TYR-428; ARG-440; SER-446; TYR-484; TYR-495; ARG-511; TYR-549; CYS-558; CYS-985 AND TYR-1261. - Ref.28"Detection of the founder effect in Finnish CADASIL families."
Mykkaenen K., Savontaus M.L., Juvonen V., Sistonen P., Tuisku S., Tuominen S., Penttinen M., Lundkvist J., Viitanen M., Kalimo H., Peoyhoenen M.
Eur. J. Hum. Genet. 12:813-819(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CADASIL1 CYS-133. - Ref.29"CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk."
Peters N., Opherk C., Zacherle S., Capell A., Gempel P., Dichgans M.
Exp. Cell Res. 299:454-464(2004) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CADASIL1 CYS-133; SER-183 AND ARG-455, FUNCTION, SUBCELLULAR LOCATION, LIGAND-BINDING DOMAIN, PROTEOLYTIC PROCESSING. - Ref.30"Gene symbol: NOTCH3. Disease: CADASIL."
Rojas-Marcos I., Encarnacion M., Martinez-Yelamos S., Ferrer I., Arbizu T., Gil-Peralta A., Garcia-Lozano J.R.
Hum. Genet. 115:175-175(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CADASIL1 TRP-108. - Ref.31"Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies."
Peters N., Opherk C., Bergmann T., Castro M., Herzog J., Dichgans M.
Arch. Neurol. 62:1091-1094(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CADASIL1 GLY-43; PHE-49; CYS-60; SER-65; TRP-76; 80-ASP--SER-84 DEL; ARG-87; CYS-90; PHE-93; TYR-108; CYS-110; PHE-117; PHE-123; CYS-133; TRP-134; CYS-141; SER-144; TYR-144; CYS-149; CYS-150; CYS-153; 153-ARG--CYS-155 DEL; CYS-169; ARG-174; TYR-174; CYS-182; SER-183; PHE-183; ARG-185; PHE-194; CYS-207; TYR-233; SER-240; ARG-245; TYR-260; 239-ASP--ASP-253 DEL; CYS-319; CYS-332; CYS-335; CYS-337; SER-379; ARG-395; CYS-421; TYR-428; ARG-440; PHE-484; TYR-495; ARG-511; TYR-549; CYS-558; CYS-728; SER-775; CYS-985 AND TYR-1261. - Ref.32"Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy."
Soong B.W., Lee Y.-C., Lu Y.-C.
Hum. Genet. 116:242-242(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CADASIL1 CYS-118. - Ref.35"Hypomorphic NOTCH3 alleles do not cause CADASIL in humans."
Rutten J.W., Boon E.M., Liem M.K., Dauwerse J.G., Pont M.J., Vollebregt E., Maat-Kievit A.J., Ginjaar H.B., Lakeman P., van Duinen S.G., Terwindt G.M., Lesnik Oberstein S.A.
Hum. Mutat. 34:1486-1489(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CADASIL1 CYS-710.
Joutel A., Vahedi K., Corpechot C., Troesch A., Chabriat H., Vayssiere C., Cruaud C., Maciazek J., Weissenbach J., Bousser M.-G., Bach J.-F., Tournier-Lasserve E.
Lancet 350:1511-1515(1997) [PubMed] [Europe PMC] [Abstract]
Dichgans M., Filippi M., Bruening R., Iannucci G., Berchtenbreiter C., Minicucci L., Uttner I., Crispin A., Ludwig H., Gasser T., Yousry T.A.
Neurology 52:1361-1367(1999) [PubMed] [Europe PMC] [Abstract]
Dutch CADASIL research group
Lesnik Oberstein S.A.J., Ferrari M.D., Bakker E., van Gestel J., Kneppers A.L.J., Frants R.R., Breuning M.H., Haan J.
Neurology 52:1913-1915(1999) [PubMed] [Europe PMC] [Abstract]
Dichgans M., Ludwig H., Mueller-Hoecker J., Messerschmidt A., Gasser T.
Eur. J. Hum. Genet. 8:280-285(2000) [PubMed] [Europe PMC] [Abstract]
Grigg R., Lea R., Sullivan A.A., Curtain R., MacMillian J., Griffiths L.
Hum. Mutat. 16:449-450(2000) [PubMed] [Europe PMC] [Abstract]
Escary J.-L., Cecillon M., Maciazek J., Lathrop M., Tournier-Lasserve E., Joutel A.
Hum. Mutat. 16:518-526(2000) [PubMed] [Europe PMC] [Abstract]
Joutel A., Chabriat H., Vahedi K., Domenga V., Vayssiere C., Ruchoux M.M., Lucas C., Leys D., Bousser M.-G., Tournier-Lasserve E.
Neurology 54:1874-1875(2000) [PubMed] [Europe PMC] [Abstract]
Oliveri R.L., Muglia M., De Stefano N., Mazzei R., Labate A., Conforti F.L., Patitucci A., Gabriele A.L., Tagarelli G., Magariello A., Zappia M., Gambardella A., Federico A., Quattrone A.
Arch. Neurol. 58:1418-1422(2001) [PubMed] [Europe PMC] [Abstract]
Joutel A., Favrole P., Labauge P., Chabriat H., Lescoat C., Andreux F., Domenga V., Cecillon M., Vahedi K., Ducros A., Cave-Riant F., Bousser M.G., Tournier-Lasserve E.
Lancet 358:2049-2051(2001) [PubMed] [Europe PMC] [Abstract]
Feuerhake F., Volk B., Ostertag C.B., Jungling F.D., Kassubek J., Orszagh M., Dichgans M.
Acta Neuropathol. 103:188-192(2002) [PubMed] [Europe PMC] [Abstract]
Kalimo H., Ruchoux M.-M., Viitanen M., Kalaria R.N.
Brain Pathol. 12:371-384(2002) [PubMed] [Europe PMC] [Abstract]
Arboleda-Velasquez J.F., Lopera F., Lopez E., Frosch M.P., Sepulveda-Falla D., Gutierrez J.E., Vargas S., Medina M., Martinez De Arrieta C., Lebo R.V., Slaugenhaupt S.A., Betensky R.A., Villegas A., Arcos-Burgos M., Rivera D., Restrepo J.C., Kosik K.S.
Neurology 59:277-279(2002) [PubMed] [Europe PMC] [Abstract]
Moon S.-Y., Kim H.-Y., Seok J.-I., Kwon J.-C., Ki C.-S., Kim J.-W., Suh Y.-L., Na D.L.
J. Korean Med. Sci. 18:141-144(2003) [PubMed] [Europe PMC] [Abstract]
Santa Y., Uyama E., Chui D.H., Arima M., Kotorii S., Takahashi K., Tabira T.
J. Neurol. Sci. 212:79-84(2003) [PubMed] [Europe PMC] [Abstract]
Singhal S., Bevan S., Barrick T., Rich P., Markus H.S.
Brain 127:2031-2038(2004) [PubMed] [Europe PMC] [Abstract]
Opherk C., Peters N., Herzog J., Luedtke R., Dichgans M.
Brain 127:2533-2539(2004) [PubMed] [Europe PMC] [Abstract]
Mykkaenen K., Savontaus M.L., Juvonen V., Sistonen P., Tuisku S., Tuominen S., Penttinen M., Lundkvist J., Viitanen M., Kalimo H., Peoyhoenen M.
Eur. J. Hum. Genet. 12:813-819(2004) [PubMed] [Europe PMC] [Abstract]
Peters N., Opherk C., Zacherle S., Capell A., Gempel P., Dichgans M.
Exp. Cell Res. 299:454-464(2004) [PubMed] [Europe PMC] [Abstract]
Rojas-Marcos I., Encarnacion M., Martinez-Yelamos S., Ferrer I., Arbizu T., Gil-Peralta A., Garcia-Lozano J.R.
Hum. Genet. 115:175-175(2004) [PubMed] [Europe PMC] [Abstract]
Peters N., Opherk C., Bergmann T., Castro M., Herzog J., Dichgans M.
Arch. Neurol. 62:1091-1094(2005) [PubMed] [Europe PMC] [Abstract]
Soong B.W., Lee Y.-C., Lu Y.-C.
Hum. Genet. 116:242-242(2005) [PubMed] [Europe PMC] [Abstract]
Rutten J.W., Boon E.M., Liem M.K., Dauwerse J.G., Pont M.J., Vollebregt E., Maat-Kievit A.J., Ginjaar H.B., Lakeman P., van Duinen S.G., Terwindt G.M., Lesnik Oberstein S.A.
Hum. Mutat. 34:1486-1489(2013) [PubMed] [Europe PMC] [Abstract]
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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_044230 | 43 | C → G in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044231 | 49 | C → F in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012871 | 49 | C → Y in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044232 | 54 | R → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044233 | 60 | S → C in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044234 | 65 | C → S in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044235 | 67 | C → Y in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012872 | 71 | W → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044236 | 76 | C → R in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044237 | 76 | C → W in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044238 | 77 – 82 | Missing in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 6 | |
Natural variantiVAR_044239 | 80 – 84 | Missing in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 5 | |
Natural variantiVAR_044240 | 87 | C → R in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044241 | 87 | C → Y in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012873 | 90 | R → C in CADASIL1. 8 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044242 | 93 | C → F in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044243 | 93 | C → Y in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044244 | 106 | C → W in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044245 | 108 | C → W in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044246 | 108 | C → Y in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012874 | 110 | R → C in CADASIL1. 7 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012875 | 114 – 120 | Missing in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 7 | |
Natural variantiVAR_044247 | 117 | C → F in CADASIL1. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044248 | 118 | S → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044249 | 123 | C → F in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044250 | 123 | C → Y in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044251 | 128 | C → Y in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012876 | 133 | R → C in CADASIL1; no effect on ligand-binding; no effect on cell membrane localization; reduced proteolytic processing. 11 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044252 | 134 | C → W in CADASIL1. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012877 | 141 | R → C in CADASIL1. 9 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044253 | 142 | F → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044254 | 144 | C → F in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044255 | 144 | C → S in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044256 | 144 | C → Y in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044257 | 145 | S → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012878 | 146 | C → R in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044258 | 149 | G → C in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044259 | 150 | Y → C in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044260 | 153 – 155 | Missing in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 3 | |
Natural variantiVAR_012879 | 153 | R → C in CADASIL1. 8 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044261 | 155 | C → S in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044262 | 162 | C → S in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012880 | 169 | R → C in CADASIL1. 8 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012882 | 171 | G → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044263 | 174 | C → F in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044264 | 174 | C → R in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044265 | 174 | C → Y in CADASIL1. 5 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044266 | 180 | S → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012883 | 182 | R → C in CADASIL1. 9 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044267 | 183 | C → F in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044268 | 183 | C → R in CADASIL1; no effect on ligand-binding; no effect on cell membrane localization; reduced proteolytic processing. 5 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044269 | 183 | C → S in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044270 | 185 | C → G in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012884 | 185 | C → R in CADASIL1. 5 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044271 | 189 | Y → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044272 | 194 | C → F in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044273 | 194 | C → R in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044274 | 194 | C → S in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044275 | 194 | C → Y in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044276 | 201 | C → Y in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044277 | 206 | C → Y in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044278 | 207 | R → C in CADASIL1. 6 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012885 | 212 | C → S in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044279 | 213 | R → K in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012886 | 222 | C → G in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044280 | 222 | C → Y in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012887 | 224 | C → Y in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044281 | 233 | C → S in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044282 | 233 | C → Y in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044283 | 239 – 253 | Missing in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 15 | |
Natural variantiVAR_044284 | 240 | C → S in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044285 | 245 | C → R in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044286 | 251 | C → R in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012888 | 258 | Y → C in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044287 | 260 | C → Y in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044288 | 319 | A → C in CADASIL1; requires 2 nucleotide substitutions. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044289 | 332 | R → C in CADASIL1. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044290 | 335 | S → C in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044291 | 337 | Y → C in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044292 | 379 | C → S in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044293 | 395 | C → R in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044294 | 420 | G → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044295 | 421 | R → C in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044296 | 428 | C → S in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044297 | 428 | C → Y in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044298 | 440 | C → G in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044299 | 440 | C → R in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044300 | 446 | C → S in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044301 | 449 | R → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044302 | 455 | C → R in CADASIL1; impaired ligand-binding; strongly reduced signaling activity; no effect on cell membrane localization; reduced proteolytic processing. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044303 | 484 | C → F in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044304 | 484 | C → Y in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044305 | 495 | C → Y in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044306 | 511 | C → R in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012890 | 542 | C → Y in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044307 | 544 | R → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044308 | 549 | C → Y in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012891 | 558 | R → C in CADASIL1. 5 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012892 | 578 | R → C in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044309 | 607 | R → C in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_072080 | 710 | Y → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012893 | 728 | R → C in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044310 | 775 | C → S in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044311 | 953 | G → C in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044312 | 984 | F → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012894 | 985 | R → C in CADASIL1. 5 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012895 | 1006 | R → C in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044313 | 1015 | C → R in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044315 | 1021 | Y → C in CADASIL1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012896 | 1031 | R → C in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044316 | 1063 | D → C in CADASIL1; requires 2 nucleotide substitutions. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012899 | 1231 | R → C in CADASIL1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012900 | 1261 | C → R in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044317 | 1261 | C → Y in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 |
Myofibromatosis, infantile 2 (IMF2)1 PublicationManual assertion based on experiment ini
- Ref.34"Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis."
Martignetti J.A., Tian L., Li D., Ramirez M.C., Camacho-Vanegas O., Camacho S.C., Guo Y., Zand D.J., Bernstein A.M., Masur S.K., Kim C.E., Otieno F.G., Hou C., Abdel-Magid N., Tweddale B., Metry D., Fournet J.C., Papp E. , McPherson E.W., Zabel C., Vaksmann G., Morisot C., Keating B., Sleiman P.M., Cleveland J.A., Everman D.B., Zackai E., Hakonarson H.
Am. J. Hum. Genet. 92:1001-1007(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT IMF2 PRO-1519.
Martignetti J.A., Tian L., Li D., Ramirez M.C., Camacho-Vanegas O., Camacho S.C., Guo Y., Zand D.J., Bernstein A.M., Masur S.K., Kim C.E., Otieno F.G., Hou C., Abdel-Magid N., Tweddale B., Metry D., Fournet J.C., Papp E. , McPherson E.W., Zabel C., Vaksmann G., Morisot C., Keating B., Sleiman P.M., Cleveland J.A., Everman D.B., Zackai E., Hakonarson H.
Am. J. Hum. Genet. 92:1001-1007(2013) [PubMed] [Europe PMC] [Abstract]
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069927 | 1519 | L → P in IMF2. 1 Publication Manual assertion based on experiment ini
| 1 |
Lateral meningocele syndrome (LMNS)1 PublicationManual assertion based on experiment ini
- Ref.11"Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome."
Gripp K.W., Robbins K.M., Sobreira N.L., Witmer P.D., Bird L.M., Avela K., Makitie O., Alves D., Hogue J.S., Zackai E.H., Doheny K.F., Stabley D.L., Sol-Church K.
Am. J. Med. Genet. A 167A:271-281(2015) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN LMNS.
Gripp K.W., Robbins K.M., Sobreira N.L., Witmer P.D., Bird L.M., Avela K., Makitie O., Alves D., Hogue J.S., Zackai E.H., Doheny K.F., Stabley D.L., Sol-Church K.
Am. J. Med. Genet. A 167A:271-281(2015) [PubMed] [Europe PMC] [Abstract]
Keywords - Diseasei
Disease variantOrganism-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 |
MIMi | 125310, 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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 peptidei | 1 – 39 | Sequence analysisAdd BLAST | 39 | |
<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_0000007692 | 40 – 2321 | Neurogenic locus notch homolog protein 3Add BLAST | 2282 | |
ChainiPRO_0000007693 | 1629 – 2321 | Notch 3 extracellular truncationBy similarityAdd BLAST | 693 | |
ChainiPRO_0000007694 | 1662 – 2321 | Notch 3 intracellular domainBy similarityAdd BLAST | 660 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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 bondi | 43 ↔ 55 | By similarity | ||
Disulfide bondi | 49 ↔ 65 | By similarity | ||
Disulfide bondi | 67 ↔ 76 | By similarity | ||
Disulfide bondi | 82 ↔ 93 | By similarity | ||
Disulfide bondi | 87 ↔ 106 | By similarity | ||
Disulfide bondi | 108 ↔ 117 | By similarity | ||
Disulfide bondi | 123 ↔ 134 | By similarity | ||
Disulfide bondi | 128 ↔ 144 | By similarity | ||
Disulfide bondi | 146 ↔ 155 | By similarity | ||
Disulfide bondi | 162 ↔ 174 | By similarity | ||
Disulfide bondi | 168 ↔ 183 | By similarity | ||
Disulfide bondi | 185 ↔ 194 | By similarity | ||
Disulfide bondi | 201 ↔ 212 | By similarity | ||
Disulfide bondi | 206 ↔ 222 | By similarity | ||
Disulfide bondi | 224 ↔ 233 | By similarity | ||
Disulfide bondi | 240 ↔ 251 | By similarity | ||
Disulfide bondi | 245 ↔ 260 | By similarity | ||
Disulfide bondi | 262 ↔ 271 | By similarity | ||
Disulfide bondi | 278 ↔ 291 | By similarity | ||
Disulfide bondi | 285 ↔ 300 | By similarity | ||
Disulfide bondi | 302 ↔ 311 | By similarity | ||
Disulfide bondi | 318 ↔ 329 | By similarity | ||
Disulfide bondi | 323 ↔ 338 | By similarity | ||
Disulfide bondi | 340 ↔ 349 | By similarity | ||
Disulfide bondi | 355 ↔ 366 | By similarity | ||
Disulfide bondi | 360 ↔ 377 | By similarity | ||
Disulfide bondi | 379 ↔ 388 | By similarity | ||
Disulfide bondi | 395 ↔ 408 | By similarity | ||
Disulfide bondi | 402 ↔ 417 | By similarity | ||
Disulfide bondi | 419 ↔ 428 | By similarity | ||
Disulfide bondi | 435 ↔ 446 | By similarity | ||
Disulfide bondi | 440 ↔ 455 | By similarity | ||
Disulfide bondi | 457 ↔ 466 | By similarity | ||
Disulfide bondi | 473 ↔ 484 | By similarity | ||
Disulfide bondi | 478 ↔ 493 | By similarity | ||
Disulfide bondi | 495 ↔ 504 | By similarity | ||
Disulfide bondi | 511 ↔ 522 | By similarity | ||
Disulfide bondi | 516 ↔ 531 | By similarity | ||
Disulfide bondi | 533 ↔ 542 | By similarity | ||
Disulfide bondi | 549 ↔ 559 | By similarity | ||
Disulfide bondi | 554 ↔ 568 | By similarity | ||
Disulfide bondi | 570 ↔ 579 | By similarity | ||
Disulfide bondi | 586 ↔ 597 | By similarity | ||
Disulfide bondi | 591 ↔ 606 | By similarity | ||
Disulfide bondi | 608 ↔ 617 | By similarity | ||
Disulfide bondi | 624 ↔ 634 | By similarity | ||
Disulfide bondi | 629 ↔ 643 | By similarity | ||
Disulfide bondi | 645 ↔ 654 | By similarity | ||
Disulfide bondi | 661 ↔ 672 | By similarity | ||
Disulfide bondi | 666 ↔ 681 | By similarity | ||
Disulfide bondi | 683 ↔ 692 | By similarity | ||
Disulfide bondi | 699 ↔ 709 | By similarity | ||
Disulfide bondi | 704 ↔ 718 | By similarity | ||
Disulfide bondi | 720 ↔ 729 | By similarity | ||
Disulfide bondi | 738 ↔ 749 | By similarity | ||
Disulfide bondi | 743 ↔ 758 | By similarity | ||
Disulfide bondi | 760 ↔ 769 | By similarity | ||
Disulfide bondi | 775 ↔ 786 | By similarity | ||
Disulfide bondi | 780 ↔ 796 | By similarity | ||
Disulfide bondi | 798 ↔ 807 | By similarity | ||
Disulfide bondi | 814 ↔ 826 | By similarity | ||
Disulfide bondi | 820 ↔ 835 | By similarity | ||
Disulfide bondi | 837 ↔ 846 | By similarity | ||
Disulfide bondi | 853 ↔ 864 | By similarity | ||
Disulfide bondi | 858 ↔ 873 | By similarity | ||
Disulfide bondi | 875 ↔ 884 | By similarity | ||
Disulfide bondi | 891 ↔ 901 | By similarity | ||
Disulfide bondi | 896 ↔ 910 | By similarity | ||
Disulfide bondi | 912 ↔ 921 | By similarity | ||
Disulfide bondi | 928 ↔ 939 | By similarity | ||
Disulfide bondi | 933 ↔ 948 | By similarity | ||
Disulfide bondi | 950 ↔ 959 | By similarity | ||
Disulfide bondi | 966 ↔ 977 | By similarity | ||
Disulfide bondi | 971 ↔ 986 | By similarity | ||
Disulfide bondi | 988 ↔ 997 | By similarity | ||
Disulfide bondi | 1004 ↔ 1015 | By similarity | ||
Disulfide bondi | 1009 ↔ 1022 | By similarity | ||
Disulfide bondi | 1024 ↔ 1033 | By similarity | ||
Disulfide bondi | 1040 ↔ 1061 | Curated | ||
Disulfide bondi | 1055 ↔ 1070 | By similarity | ||
Disulfide bondi | 1072 ↔ 1081 | By similarity | ||
Disulfide bondi | 1088 ↔ 1099 | By similarity | ||
Disulfide bondi | 1093 ↔ 1108 | By similarity | ||
Disulfide bondi | 1110 ↔ 1119 | By similarity | ||
Disulfide bondi | 1126 ↔ 1137 | By similarity | ||
Disulfide bondi | 1131 ↔ 1146 | By similarity | ||
Disulfide bondi | 1148 ↔ 1157 | By similarity | ||
Disulfide bondi | 1164 ↔ 1182 | By similarity | ||
Disulfide bondi | 1176 ↔ 1191 | By 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>Glycosylationi | 1179 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 1193 ↔ 1202 | By similarity | ||
Disulfide bondi | 1209 ↔ 1222 | By similarity | ||
Disulfide bondi | 1214 ↔ 1232 | By similarity | ||
Disulfide bondi | 1234 ↔ 1243 | By similarity | ||
Disulfide bondi | 1250 ↔ 1261 | By similarity | ||
Disulfide bondi | 1255 ↔ 1275 | By similarity | ||
Disulfide bondi | 1277 ↔ 1286 | By similarity | ||
Disulfide bondi | 1293 ↔ 1304 | By similarity | ||
Disulfide bondi | 1298 ↔ 1313 | By similarity | ||
Disulfide bondi | 1315 ↔ 1324 | By similarity | ||
Glycosylationi | 1336 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 1339 ↔ 1350 | By similarity | ||
Disulfide bondi | 1344 ↔ 1361 | By similarity | ||
Disulfide bondi | 1363 ↔ 1372 | By similarity | ||
Disulfide bondi | 1387 ↔ 1410 | By similarity | ||
Disulfide bondi | 1392 ↔ 1405 | By similarity | ||
Disulfide bondi | 1401 ↔ 1417 | By similarity | ||
Disulfide bondi | 1428 ↔ 1451 | By similarity | ||
Disulfide bondi | 1433 ↔ 1446 | By similarity | ||
Glycosylationi | 1438 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 1442 ↔ 1458 | By similarity | ||
Disulfide bondi | 1467 ↔ 1493 | By similarity | ||
Disulfide bondi | 1475 ↔ 1488 | By similarity | ||
Disulfide bondi | 1484 ↔ 1500 | By 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 residuei | 2174 | Omega-N-methylarginineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0007744">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 1 |
<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
Manual assertion based on experiment ini
- Ref.29"CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk."
Peters N., Opherk C., Zacherle S., Capell A., Gempel P., Dichgans M.
Exp. Cell Res. 299:454-464(2004) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CADASIL1 CYS-133; SER-183 AND ARG-455, FUNCTION, SUBCELLULAR LOCATION, LIGAND-BINDING DOMAIN, PROTEOLYTIC PROCESSING.
Manual assertion based on experiment ini
- Ref.9"Interaction with factor inhibiting HIF-1 defines an additional mode of cross-coupling between the Notch and hypoxia signaling pathways."
Zheng X., Linke S., Dias J.M., Zheng X., Gradin K., Wallis T.P., Hamilton B.R., Gustafsson M., Ruas J.L., Wilkins S., Bilton R.L., Brismar K., Whitelaw M.L., Pereira T., Gorman J.J., Ericson J., Peet D.J., Lendahl U., Poellinger L.
Proc. Natl. Acad. Sci. U.S.A. 105:3368-3373(2008) [PubMed] [Europe PMC] [Abstract]Cited for: HYDROXYLATION BY HIF1AN.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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>Sitei | 1571 – 1572 | Cleavage; by furin-like proteaseBy similarity | 2 |
Keywords - PTMi
Disulfide bond, Glycoprotein, Methylation, PhosphoproteinProteomic 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
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 PublicationsManual assertion based on experiment ini
- Ref.5"MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors."
Wu L., Aster J.C., Blacklow S.C., Lake R., Artavanis-Tsakonas S., Griffin J.D.
Nat. Genet. 26:484-489(2000) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH MAML1. - Ref.6"Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors."
Wu L., Sun T., Kobayashi K., Gao P., Griffin J.D.
Mol. Cell. Biol. 22:7688-7700(2002) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH MAML2 AND MAML3. - Ref.7"Conserved signal peptide of Notch3 inhibits interaction with proteasome."
Zhang Y., Jia L., Lee S.J., Wang M.M.
Biochem. Biophys. Res. Commun. 355:245-251(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH PSMA1. - Ref.8"Asparaginyl hydroxylation of the Notch ankyrin repeat domain by factor inhibiting hypoxia-inducible factor."
Coleman M.L., McDonough M.A., Hewitson K.S., Coles C., Mecinovic J., Edelmann M., Cook K.M., Cockman M.E., Lancaster D.E., Kessler B.M., Oldham N.J., Ratcliffe P.J., Schofield C.J.
J. Biol. Chem. 282:24027-24038(2007) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH HIF1AN.
<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
Show more detailsHide detailsQ9UM47
With | #Exp. | IntAct |
---|---|---|
itself | 2 | EBI-1236377,EBI-1236377 |
PRR20D [P86480] | 3 | EBI-1236377,EBI-12754095 |
Psma1 [Q9R1P4] from Mus musculus. | 2 | EBI-1236377,EBI-991653 |
GO - Molecular functioni
- cadherin binding Source: BHF-UCLInferred from high throughput direct assayi
- "E-cadherin interactome complexity and robustness resolved by quantitative proteomics."
Guo Z., Neilson L.J., Zhong H., Murray P.S., Zanivan S., Zaidel-Bar R.
Sci Signal 7:rs7-rs7(2014) [PubMed] [Europe PMC] [Abstract]
- identical protein binding Source: IntActInferred from physical interactioni
- "Insights into Autoregulation of Notch3 from Structural and Functional Studies of Its Negative Regulatory Region."
Xu X., Choi S.H., Hu T., Tiyanont K., Habets R., Groot A.J., Vooijs M., Aster J.C., Chopra R., Fryer C., Blacklow S.C.
Structure 23:1227-1235(2015) [PubMed] [Europe PMC] [Abstract]
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
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<p>This subsection of the <a href="http://www.uniprot.org/help/structure%5Fsection">'Structure'</a> section is used to indicate the positions of experimentally determined beta strands within the protein sequence.<p><a href='/help/strand' target='_top'>More...</a></p>Beta strandi | 1389 – 1391 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
<p>This subsection of the <a href="http://www.uniprot.org/help/structure%5Fsection">'Structure'</a> section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 1393 – 1395 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 1398 – 1400 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 1403 – 1405 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
<p>This subsection of the <a href="http://www.uniprot.org/help/structure%5Fsection">'Structure'</a> section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the DSSP secondary structure code 'T'.<p><a href='/help/turn' target='_top'>More...</a></p>Turni | 1408 – 1410 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 1411 – 1414 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Turni | 1415 – 1420 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
Turni | 1424 – 1427 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Turni | 1431 – 1433 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 1434 – 1437 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 1439 – 1441 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 1444 – 1446 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Turni | 1449 – 1451 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 1452 – 1456 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Turni | 1457 – 1459 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 1463 – 1465 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 1469 – 1471 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 1472 – 1478 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 7 | |
Beta strandi | 1481 – 1483 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 1486 – 1488 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 1491 – 1493 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 1495 – 1498 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 1510 – 1519 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 10 | |
Helixi | 1521 – 1526 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 6 | |
Helixi | 1528 – 1539 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 12 | |
Beta strandi | 1541 – 1545 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 5 | |
Beta strandi | 1555 – 1558 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Beta strandi | 1579 – 1587 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 9 | |
Turni | 1589 – 1592 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 4 | |
Turni | 1595 – 1597 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Beta strandi | 1598 – 1600 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 3 | |
Helixi | 1604 – 1616 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 13 | |
Beta strandi | 1626 – 1632 | Combined sources Manual assertion inferred from combination of experimental and computational evidencei | 7 |
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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>Domaini | 40 – 77 | EGF-like 1PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Add BLAST | 38 | |
Domaini | 78 – 118 | EGF-like 2PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 41 | |
Domaini | 119 – 156 | EGF-like 3PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 38 | |
Domaini | 158 – 195 | EGF-like 4; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 38 | |
Domaini | 197 – 234 | EGF-like 5PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 38 | |
Domaini | 236 – 272 | EGF-like 6; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 274 – 312 | EGF-like 7PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 39 | |
Domaini | 314 – 350 | EGF-like 8; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 351 – 389 | EGF-like 9PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 39 | |
Domaini | 391 – 429 | EGF-like 10; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 39 | |
Domaini | 431 – 467 | EGF-like 11; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 469 – 505 | EGF-like 12; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 507 – 543 | EGF-like 13; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 545 – 580 | EGF-like 14; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 36 | |
Domaini | 582 – 618 | EGF-like 15; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 620 – 655 | EGF-like 16; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 36 | |
Domaini | 657 – 693 | EGF-like 17; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 695 – 730 | EGF-like 18PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 36 | |
Domaini | 734 – 770 | EGF-like 19PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 771 – 808 | EGF-like 20PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 38 | |
Domaini | 810 – 847 | EGF-like 21; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 38 | |
Domaini | 849 – 885 | EGF-like 22; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 887 – 922 | EGF-like 23; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 36 | |
Domaini | 924 – 960 | EGF-like 24PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 962 – 998 | EGF-like 25PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 1000 – 1034 | EGF-like 26PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 35 | |
Domaini | 1036 – 1082 | EGF-like 27CuratedAdd BLAST | 47 | |
Domaini | 1084 – 1120 | EGF-like 28PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 1122 – 1158 | EGF-like 29; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 1160 – 1203 | EGF-like 30; calcium-bindingPROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 44 | |
Domaini | 1205 – 1244 | EGF-like 31PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 40 | |
Domaini | 1246 – 1287 | EGF-like 32PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 42 | |
Domaini | 1289 – 1325 | EGF-like 33PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 37 | |
Domaini | 1335 – 1373 | EGF-like 34PROSITE-ProRule annotation Manual assertion according to rulesi Add BLAST | 39 | |
<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>Repeati | 1387 – 1427 | LNR 1Add BLAST | 41 | |
Repeati | 1428 – 1458 | LNR 2Add BLAST | 31 | |
Repeati | 1467 – 1505 | LNR 3Add BLAST | 39 | |
Repeati | 1838 – 1867 | ANK 1Add BLAST | 30 | |
Repeati | 1871 – 1901 | ANK 2Add BLAST | 31 | |
Repeati | 1905 – 1934 | ANK 3Add BLAST | 30 | |
Repeati | 1938 – 1967 | ANK 4Add BLAST | 30 | |
Repeati | 1971 – 2000 | ANK 5Add BLAST | 30 |
<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
Manual assertion based on experiment ini
- Ref.29"CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk."
Peters N., Opherk C., Zacherle S., Capell A., Gempel P., Dichgans M.
Exp. Cell Res. 299:454-464(2004) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CADASIL1 CYS-133; SER-183 AND ARG-455, FUNCTION, SUBCELLULAR LOCATION, LIGAND-BINDING DOMAIN, PROTEOLYTIC PROCESSING.
<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
Keywords - Domaini
ANK repeat, EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic 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
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
<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 basketEntry | Entry name | Protein names | Gene names | Length | Annotation | ||
---|---|---|---|---|---|---|---|
M0R3C9 | M0R3C9_HUMAN | Neurogenic locus notch homolog prot... Neurogenic locus notch homolog protein 3 | NOTCH3 | 1,286 | Annotation 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> | ||
M0QX38 | M0QX38_HUMAN | Neurogenic locus notch homolog prot... Neurogenic locus notch homolog protein 3 | NOTCH3 | 177 | Annotation 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> | ||
M0QZN3 | M0QZN3_HUMAN | Neurogenic locus notch homolog prot... Neurogenic locus notch homolog protein 3 | NOTCH3 | 117 | Annotation 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_044230 | 43 | C → G in CADASIL1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_044231 | 49 | C → F in CADASIL1. 2 Publications Manual assertion based on experiment ini
|