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Q9UM47

- NOTC3_HUMAN

UniProt

Q9UM47 - NOTC3_HUMAN

Protein

Neurogenic locus notch homolog protein 3

Gene

NOTCH3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 153 (01 Oct 2014)
      Sequence version 2 (08 Feb 2011)
      Previous versions | rss
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    Functioni

    Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. 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 similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei1571 – 15722Cleavage; by furin-like proteaseBy similarity

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. forebrain development Source: Ensembl
    2. gene expression Source: Reactome
    3. glomerular capillary formation Source: Ensembl
    4. negative regulation of neuron differentiation Source: Ensembl
    5. neuron fate commitment Source: Ensembl
    6. Notch receptor processing Source: Reactome
    7. Notch signaling pathway Source: Reactome
    8. positive regulation of smooth muscle cell proliferation Source: Ensembl
    9. regulation of transcription, DNA-templated Source: UniProtKB-KW
    10. transcription initiation from RNA polymerase II promoter Source: Reactome

    Keywords - Molecular functioni

    Activator, Developmental protein, Receptor

    Keywords - Biological processi

    Differentiation, Notch signaling pathway, Transcription, Transcription regulation

    Enzyme and pathway databases

    ReactomeiREACT_118568. Pre-NOTCH Transcription and Translation.
    REACT_118722. Pre-NOTCH Processing in the Endoplasmic Reticulum.
    REACT_118798. Pre-NOTCH Processing in Golgi.
    REACT_118862. Signaling by NOTCH3.
    REACT_14835. Notch-HLH transcription pathway.
    SignaLinkiQ9UM47.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Neurogenic locus notch homolog protein 3
    Short name:
    Notch 3
    Cleaved into the following 2 chains:
    Gene namesi
    Name:NOTCH3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:7883. NOTCH3.

    Subcellular locationi

    Chain Notch 3 intracellular domain : Nucleus
    Note: Following proteolytical processing NICD is translocated to the nucleus.

    GO - Cellular componenti

    1. actin cytoskeleton Source: HPA
    2. cytoplasm Source: HPA
    3. cytosol Source: Reactome
    4. endoplasmic reticulum membrane Source: Reactome
    5. extracellular region Source: Reactome
    6. Golgi membrane Source: Reactome
    7. integral component of membrane Source: UniProtKB-KW
    8. nucleoplasm Source: Reactome
    9. nucleus Source: HPA
    10. plasma membrane Source: Reactome
    11. receptor complex Source: MGI

    Keywords - Cellular componenti

    Cell membrane, Membrane, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) [MIM:125310]: A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.20 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti43 – 431C → G in CADASIL. 2 Publications
    VAR_044230
    Natural varianti49 – 491C → F in CADASIL. 2 Publications
    VAR_044231
    Natural varianti49 – 491C → Y in CADASIL. 2 Publications
    VAR_012871
    Natural varianti54 – 541R → C in CADASIL. 1 Publication
    VAR_044232
    Natural varianti60 – 601S → C in CADASIL. 2 Publications
    VAR_044233
    Natural varianti65 – 651C → S in CADASIL. 2 Publications
    VAR_044234
    Natural varianti67 – 671C → Y in CADASIL. 1 Publication
    VAR_044235
    Natural varianti71 – 711W → C in CADASIL. 1 Publication
    Corresponds to variant rs28937321 [ dbSNP | Ensembl ].
    VAR_012872
    Natural varianti76 – 761C → R in CADASIL. 2 Publications
    VAR_044236
    Natural varianti76 – 761C → W in CADASIL. 2 Publications
    VAR_044237
    Natural varianti77 – 826Missing in CADASIL.
    VAR_044238
    Natural varianti80 – 845Missing in CADASIL.
    VAR_044239
    Natural varianti87 – 871C → R in CADASIL. 2 Publications
    VAR_044240
    Natural varianti87 – 871C → Y in CADASIL. 1 Publication
    VAR_044241
    Natural varianti90 – 901R → C in CADASIL. 8 Publications
    VAR_012873
    Natural varianti93 – 931C → F in CADASIL. 3 Publications
    VAR_044242
    Natural varianti93 – 931C → Y in CADASIL. 1 Publication
    VAR_044243
    Natural varianti106 – 1061C → W in CADASIL. 1 Publication
    VAR_044244
    Natural varianti108 – 1081C → W in CADASIL. 1 Publication
    VAR_044245
    Natural varianti108 – 1081C → Y in CADASIL. 2 Publications
    VAR_044246
    Natural varianti110 – 1101R → C in CADASIL. 7 Publications
    VAR_012874
    Natural varianti114 – 1207Missing in CADASIL. 1 Publication
    VAR_012875
    Natural varianti117 – 1171C → F in CADASIL. 4 Publications
    VAR_044247
    Natural varianti118 – 1181S → C in CADASIL. 1 Publication
    VAR_044248
    Natural varianti123 – 1231C → F in CADASIL. 3 Publications
    VAR_044249
    Natural varianti123 – 1231C → Y in CADASIL. 1 Publication
    VAR_044250
    Natural varianti128 – 1281C → Y in CADASIL. 1 Publication
    VAR_044251
    Natural varianti133 – 1331R → C in CADASIL. 10 Publications
    VAR_012876
    Natural varianti134 – 1341C → W in CADASIL. 4 Publications
    VAR_044252
    Natural varianti141 – 1411R → C in CADASIL. 9 Publications
    VAR_012877
    Natural varianti142 – 1421F → C in CADASIL. 1 Publication
    VAR_044253
    Natural varianti144 – 1441C → F in CADASIL. 1 Publication
    VAR_044254
    Natural varianti144 – 1441C → S in CADASIL. 3 Publications
    VAR_044255
    Natural varianti144 – 1441C → Y in CADASIL. 3 Publications
    VAR_044256
    Natural varianti145 – 1451S → C in CADASIL. 1 Publication
    VAR_044257
    Natural varianti146 – 1461C → R in CADASIL. 2 Publications
    VAR_012878
    Natural varianti149 – 1491G → C in CADASIL. 2 Publications
    VAR_044258
    Natural varianti150 – 1501Y → C in CADASIL. 3 Publications
    VAR_044259
    Natural varianti153 – 1553Missing in CADASIL. 2 Publications
    VAR_044260
    Natural varianti153 – 1531R → C in CADASIL. 8 Publications
    VAR_012879
    Natural varianti155 – 1551C → S in CADASIL. 1 Publication
    VAR_044261
    Natural varianti162 – 1621C → S in CADASIL. 1 Publication
    VAR_044262
    Natural varianti169 – 1691R → C in CADASIL. 8 Publications
    Corresponds to variant rs28933696 [ dbSNP | Ensembl ].
    VAR_012880
    Natural varianti171 – 1711G → C in CADASIL. 1 Publication
    VAR_012882
    Natural varianti174 – 1741C → F in CADASIL. 1 Publication
    VAR_044263
    Natural varianti174 – 1741C → R in CADASIL. 3 Publications
    VAR_044264
    Natural varianti174 – 1741C → Y in CADASIL. 5 Publications
    VAR_044265
    Natural varianti180 – 1801S → C in CADASIL. 1 Publication
    VAR_044266
    Natural varianti182 – 1821R → C in CADASIL. 9 Publications
    Corresponds to variant rs28933697 [ dbSNP | Ensembl ].
    VAR_012883
    Natural varianti183 – 1831C → F in CADASIL. 2 Publications
    VAR_044267
    Natural varianti183 – 1831C → R in CADASIL. 4 Publications
    VAR_044268
    Natural varianti183 – 1831C → S in CADASIL. 3 Publications
    VAR_044269
    Natural varianti185 – 1851C → G in CADASIL. 1 Publication
    VAR_044270
    Natural varianti185 – 1851C → R in CADASIL. 5 Publications
    VAR_012884
    Natural varianti189 – 1891Y → C in CADASIL. 1 Publication
    VAR_044271
    Natural varianti194 – 1941C → F in CADASIL. 3 Publications
    VAR_044272
    Natural varianti194 – 1941C → R in CADASIL. 1 Publication
    VAR_044273
    Natural varianti194 – 1941C → S in CADASIL. 1 Publication
    VAR_044274
    Natural varianti194 – 1941C → Y in CADASIL. 1 Publication
    VAR_044275
    Natural varianti201 – 2011C → Y in CADASIL. 1 Publication
    VAR_044276
    Natural varianti206 – 2061C → Y in CADASIL. 1 Publication
    VAR_044277
    Natural varianti207 – 2071R → C in CADASIL. 6 Publications
    VAR_044278
    Natural varianti212 – 2121C → S in CADASIL. 3 Publications
    VAR_012885
    Natural varianti213 – 2131R → K in CADASIL. 1 Publication
    VAR_044279
    Natural varianti222 – 2221C → G in CADASIL. 3 Publications
    VAR_012886
    Natural varianti222 – 2221C → Y in CADASIL. 1 Publication
    VAR_044280
    Natural varianti224 – 2241C → Y in CADASIL. 2 Publications
    VAR_012887
    Natural varianti233 – 2331C → S in CADASIL. 1 Publication
    VAR_044281
    Natural varianti233 – 2331C → Y in CADASIL. 2 Publications
    VAR_044282
    Natural varianti239 – 25315Missing in CADASIL.
    VAR_044283Add
    BLAST
    Natural varianti240 – 2401C → S in CADASIL. 2 Publications
    VAR_044284
    Natural varianti245 – 2451C → R in CADASIL. 2 Publications
    VAR_044285
    Natural varianti251 – 2511C → R in CADASIL. 2 Publications
    VAR_044286
    Natural varianti258 – 2581Y → C in CADASIL. 2 Publications
    VAR_012888
    Natural varianti260 – 2601C → Y in CADASIL. 2 Publications
    VAR_044287
    Natural varianti319 – 3191A → C in CADASIL; requires 2 nucleotide substitutions. 1 Publication
    VAR_044288
    Natural varianti332 – 3321R → C in CADASIL. 4 Publications
    VAR_044289
    Natural varianti335 – 3351S → C in CADASIL. 2 Publications
    VAR_044290
    Natural varianti337 – 3371Y → C in CADASIL. 2 Publications
    VAR_044291
    Natural varianti379 – 3791C → S in CADASIL. 2 Publications
    VAR_044292
    Natural varianti395 – 3951C → R in CADASIL. 2 Publications
    VAR_044293
    Natural varianti420 – 4201G → C in CADASIL. 1 Publication
    VAR_044294
    Natural varianti421 – 4211R → C in CADASIL. 2 Publications
    VAR_044295
    Natural varianti428 – 4281C → S in CADASIL. 1 Publication
    VAR_044296
    Natural varianti428 – 4281C → Y in CADASIL. 2 Publications
    VAR_044297
    Natural varianti440 – 4401C → G in CADASIL. 2 Publications
    VAR_044298
    Natural varianti440 – 4401C → R in CADASIL. 2 Publications
    VAR_044299
    Natural varianti446 – 4461C → S in CADASIL. 1 Publication
    VAR_044300
    Natural varianti449 – 4491R → C in CADASIL. 1 Publication
    VAR_044301
    Natural varianti455 – 4551C → R in CADASIL. 1 Publication
    Corresponds to variant rs28933698 [ dbSNP | Ensembl ].
    VAR_044302
    Natural varianti484 – 4841C → F in CADASIL. 1 Publication
    VAR_044303
    Natural varianti484 – 4841C → Y in CADASIL. 1 Publication
    VAR_044304
    Natural varianti495 – 4951C → Y in CADASIL. 2 Publications
    VAR_044305
    Natural varianti511 – 5111C → R in CADASIL. 2 Publications
    VAR_044306
    Natural varianti542 – 5421C → Y in CADASIL. 2 Publications
    VAR_012890
    Natural varianti544 – 5441R → C in CADASIL. 1 Publication
    Corresponds to variant rs201118034 [ dbSNP | Ensembl ].
    VAR_044307
    Natural varianti549 – 5491C → Y in CADASIL. 2 Publications
    VAR_044308
    Natural varianti558 – 5581R → C in CADASIL. 5 Publications
    VAR_012891
    Natural varianti578 – 5781R → C in CADASIL. 2 Publications
    VAR_012892
    Natural varianti607 – 6071R → C in CADASIL. 2 Publications
    VAR_044309
    Natural varianti728 – 7281R → C in CADASIL. 3 Publications
    VAR_012893
    Natural varianti775 – 7751C → S in CADASIL. 1 Publication
    VAR_044310
    Natural varianti953 – 9531G → C in CADASIL. 2 Publications
    VAR_044311
    Natural varianti984 – 9841F → C in CADASIL. 1 Publication
    VAR_044312
    Natural varianti985 – 9851R → C in CADASIL. 5 Publications
    VAR_012894
    Natural varianti1006 – 10061R → C in CADASIL. 2 Publications
    VAR_012895
    Natural varianti1015 – 10151C → R in CADASIL. 1 Publication
    VAR_044313
    Natural varianti1021 – 10211Y → C in CADASIL. 1 Publication
    VAR_044315
    Natural varianti1031 – 10311R → C in CADASIL. 2 Publications
    VAR_012896
    Natural varianti1063 – 10631D → C in CADASIL; requires 2 nucleotide substitutions. 1 Publication
    VAR_044316
    Natural varianti1231 – 12311R → C in CADASIL. 3 Publications
    VAR_012899
    Natural varianti1261 – 12611C → R in CADASIL. 2 Publications
    VAR_012900
    Natural varianti1261 – 12611C → Y in CADASIL. 2 Publications
    VAR_044317
    Myofibromatosis, infantile 2 (IMF2) [MIM:615293]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1519 – 15191L → P in IMF2. 1 Publication
    VAR_069927

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi125310. phenotype.
    615293. phenotype.
    Orphaneti136. CADASIL.
    2591. Infantile myofibromatosis.
    PharmGKBiPA31685.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3939Sequence AnalysisAdd
    BLAST
    Chaini40 – 23212282Neurogenic locus notch homolog protein 3PRO_0000007692Add
    BLAST
    Chaini1629 – 2321693Notch 3 extracellular truncationBy similarityPRO_0000007693Add
    BLAST
    Chaini1662 – 2321660Notch 3 intracellular domainBy similarityPRO_0000007694Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    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 ↔ 1061By similarity
    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
    Glycosylationi1179 – 11791N-linked (GlcNAc...)Sequence Analysis
    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
    Glycosylationi1336 – 13361N-linked (GlcNAc...)Sequence Analysis
    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
    Glycosylationi1438 – 14381N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1442 ↔ 1458By similarity
    Disulfide bondi1467 ↔ 1493By similarity
    Disulfide bondi1475 ↔ 1488By similarity
    Disulfide bondi1484 ↔ 1500By similarity

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

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9UM47.
    PaxDbiQ9UM47.
    PRIDEiQ9UM47.

    PTM databases

    PhosphoSiteiQ9UM47.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed in fetal and adult tissues.

    Gene expression databases

    ArrayExpressiQ9UM47.
    BgeeiQ9UM47.
    CleanExiHS_NOTCH3.
    GenevestigatoriQ9UM47.

    Organism-specific databases

    HPAiCAB005393.
    HPA044392.

    Interactioni

    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

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Psma1Q9R1P42EBI-1236377,EBI-991653From a different organism.

    Protein-protein interaction databases

    BioGridi110916. 15 interactions.
    IntActiQ9UM47. 13 interactions.
    MINTiMINT-2822317.
    STRINGi9606.ENSP00000263388.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UM47.
    SMRiQ9UM47. Positions 390-505, 1791-2026.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini40 – 16431604ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1665 – 2321657CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1644 – 166421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini40 – 7738EGF-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini78 – 11841EGF-like 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini119 – 15638EGF-like 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini158 – 19538EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini197 – 23438EGF-like 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini236 – 27237EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini274 – 31239EGF-like 7PROSITE-ProRule annotationAdd
    BLAST
    Domaini314 – 35037EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini351 – 38939EGF-like 9PROSITE-ProRule annotationAdd
    BLAST
    Domaini391 – 42939EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini431 – 46737EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini469 – 50537EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini507 – 54337EGF-like 13; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini545 – 58036EGF-like 14; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini582 – 61837EGF-like 15; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini620 – 65536EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini657 – 69337EGF-like 17; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini695 – 73036EGF-like 18PROSITE-ProRule annotationAdd
    BLAST
    Domaini734 – 77037EGF-like 19PROSITE-ProRule annotationAdd
    BLAST
    Domaini771 – 80838EGF-like 20PROSITE-ProRule annotationAdd
    BLAST
    Domaini810 – 84738EGF-like 21; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini849 – 88537EGF-like 22; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini887 – 92236EGF-like 23; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini924 – 96037EGF-like 24PROSITE-ProRule annotationAdd
    BLAST
    Domaini962 – 99837EGF-like 25PROSITE-ProRule annotationAdd
    BLAST
    Domaini1000 – 103435EGF-like 26PROSITE-ProRule annotationAdd
    BLAST
    Domaini1047 – 108236EGF-like 27PROSITE-ProRule annotationAdd
    BLAST
    Domaini1084 – 112037EGF-like 28PROSITE-ProRule annotationAdd
    BLAST
    Domaini1122 – 115837EGF-like 29; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1160 – 120344EGF-like 30; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1205 – 124440EGF-like 31PROSITE-ProRule annotationAdd
    BLAST
    Domaini1246 – 128742EGF-like 32PROSITE-ProRule annotationAdd
    BLAST
    Domaini1289 – 132537EGF-like 33PROSITE-ProRule annotationAdd
    BLAST
    Domaini1335 – 137339EGF-like 34PROSITE-ProRule annotationAdd
    BLAST
    Repeati1387 – 142741LNR 1Add
    BLAST
    Repeati1428 – 145831LNR 2Add
    BLAST
    Repeati1467 – 150539LNR 3Add
    BLAST
    Repeati1838 – 186730ANK 1Add
    BLAST
    Repeati1871 – 190131ANK 2Add
    BLAST
    Repeati1905 – 193430ANK 3Add
    BLAST
    Repeati1938 – 196730ANK 4Add
    BLAST
    Repeati1971 – 200030ANK 5Add
    BLAST

    Sequence similaritiesi

    Belongs to the NOTCH family.Curated
    Contains 5 ANK repeats.PROSITE-ProRule annotation
    Contains 34 EGF-like domains.PROSITE-ProRule annotation
    Contains 3 LNR (Lin/Notch) repeats.PROSITE-ProRule annotation

    Keywords - Domaini

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

    Phylogenomic databases

    eggNOGiCOG0666.
    HOGENOMiHOG000234369.
    HOVERGENiHBG052650.
    InParanoidiQ9UM47.
    KOiK02599.
    OMAiMLEIDNR.
    OrthoDBiEOG7992RD.
    PhylomeDBiQ9UM47.
    TreeFamiTF351641.

    Family and domain databases

    Gene3Di1.25.40.20. 1 hit.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR024600. DUF3454_notch.
    IPR000742. EG-like_dom.
    IPR001881. EGF-like_Ca-bd_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    IPR018097. EGF_Ca-bd_CS.
    IPR009030. Growth_fac_rcpt_N_dom.
    IPR008297. Notch.
    IPR022331. Notch_3.
    IPR000800. Notch_dom.
    IPR010660. Notch_NOD_dom.
    IPR011656. Notch_NODP_dom.
    [Graphical view]
    PfamiPF12796. Ank_2. 2 hits.
    PF11936. DUF3454. 1 hit.
    PF00008. EGF. 17 hits.
    PF07645. EGF_CA. 5 hits.
    PF12661. hEGF. 2 hits.
    PF06816. NOD. 1 hit.
    PF07684. NODP. 1 hit.
    PF00066. Notch. 3 hits.
    [Graphical view]
    PIRSFiPIRSF002279. Notch. 1 hit.
    PRINTSiPR01452. LNOTCHREPEAT.
    PR01986. NOTCH3.
    SMARTiSM00248. ANK. 6 hits.
    SM00181. EGF. 15 hits.
    SM00179. EGF_CA. 19 hits.
    SM00004. NL. 3 hits.
    [Graphical view]
    SUPFAMiSSF48403. SSF48403. 1 hit.
    SSF57184. SSF57184. 4 hits.
    SSF90193. SSF90193. 3 hits.
    PROSITEiPS50297. 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.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9UM47-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGPGARGRRR RRRPMSPPPP PPPVRALPLL LLLAGPGAAA PPCLDGSPCA     50
    NGGRCTQLPS REAACLCPPG WVGERCQLED PCHSGPCAGR GVCQSSVVAG 100
    TARFSCRCPR GFRGPDCSLP DPCLSSPCAH GARCSVGPDG RFLCSCPPGY 150
    QGRSCRSDVD ECRVGEPCRH GGTCLNTPGS FRCQCPAGYT GPLCENPAVP 200
    CAPSPCRNGG TCRQSGDLTY DCACLPGFEG QNCEVNVDDC PGHRCLNGGT 250
    CVDGVNTYNC QCPPEWTGQF CTEDVDECQL QPNACHNGGT CFNTLGGHSC 300
    VCVNGWTGES CSQNIDDCAT AVCFHGATCH DRVASFYCAC PMGKTGLLCH 350
    LDDACVSNPC HEDAICDTNP VNGRAICTCP PGFTGGACDQ DVDECSIGAN 400
    PCEHLGRCVN TQGSFLCQCG RGYTGPRCET DVNECLSGPC RNQATCLDRI 450
    GQFTCICMAG FTGTYCEVDI DECQSSPCVN GGVCKDRVNG FSCTCPSGFS 500
    GSTCQLDVDE CASTPCRNGA KCVDQPDGYE CRCAEGFEGT LCDRNVDDCS 550
    PDPCHHGRCV DGIASFSCAC APGYTGTRCE SQVDECRSQP CRHGGKCLDL 600
    VDKYLCRCPS GTTGVNCEVN IDDCASNPCT FGVCRDGINR YDCVCQPGFT 650
    GPLCNVEINE CASSPCGEGG SCVDGENGFR CLCPPGSLPP LCLPPSHPCA 700
    HEPCSHGICY DAPGGFRCVC EPGWSGPRCS QSLARDACES QPCRAGGTCS 750
    SDGMGFHCTC PPGVQGRQCE LLSPCTPNPC EHGGRCESAP GQLPVCSCPQ 800
    GWQGPRCQQD VDECAGPAPC GPHGICTNLA GSFSCTCHGG YTGPSCDQDI 850
    NDCDPNPCLN GGSCQDGVGS FSCSCLPGFA GPRCARDVDE CLSNPCGPGT 900
    CTDHVASFTC TCPPGYGGFH CEQDLPDCSP SSCFNGGTCV DGVNSFSCLC 950
    RPGYTGAHCQ HEADPCLSRP CLHGGVCSAA HPGFRCTCLE SFTGPQCQTL 1000
    VDWCSRQPCQ NGGRCVQTGA YCLCPPGWSG RLCDIRSLPC REAAAQIGVR 1050
    LEQLCQAGGQ CVDEDSSHYC VCPEGRTGSH CEQEVDPCLA QPCQHGGTCR 1100
    GYMGGYMCEC LPGYNGDNCE DDVDECASQP CQHGGSCIDL VARYLCSCPP 1150
    GTLGVLCEIN EDDCGPGPPL DSGPRCLHNG TCVDLVGGFR CTCPPGYTGL 1200
    RCEADINECR SGACHAAHTR DCLQDPGGGF RCLCHAGFSG PRCQTVLSPC 1250
    ESQPCQHGGQ CRPSPGPGGG LTFTCHCAQP FWGPRCERVA RSCRELQCPV 1300
    GVPCQQTPRG PRCACPPGLS GPSCRSFPGS PPGASNASCA AAPCLHGGSC 1350
    RPAPLAPFFR CACAQGWTGP RCEAPAAAPE VSEEPRCPRA ACQAKRGDQR 1400
    CDRECNSPGC GWDGGDCSLS VGDPWRQCEA LQCWRLFNNS RCDPACSSPA 1450
    CLYDNFDCHA GGRERTCNPV YEKYCADHFA DGRCDQGCNT EECGWDGLDC 1500
    ASEVPALLAR GVLVLTVLLP PEELLRSSAD FLQRLSAILR TSLRFRLDAH 1550
    GQAMVFPYHR PSPGSEPRAR RELAPEVIGS VVMLEIDNRL CLQSPENDHC 1600
    FPDAQSAADY LGALSAVERL DFPYPLRDVR GEPLEPPEPS VPLLPLLVAG 1650
    AVLLLVILVL GVMVARRKRE HSTLWFPEGF SLHKDVASGH KGRREPVGQD 1700
    ALGMKNMAKG ESLMGEVATD WMDTECPEAK RLKVEEPGMG AEEAVDCRQW 1750
    TQHHLVAADI RVAPAMALTP PQGDADADGM DVNVRGPDGF TPLMLASFCG 1800
    GALEPMPTEE DEADDTSASI ISDLICQGAQ LGARTDRTGE TALHLAARYA 1850
    RADAAKRLLD AGADTNAQDH SGRTPLHTAV TADAQGVFQI LIRNRSTDLD 1900
    ARMADGSTAL ILAARLAVEG MVEELIASHA DVNAVDELGK SALHWAAAVN 1950
    NVEATLALLK NGANKDMQDS KEETPLFLAA REGSYEAAKL LLDHFANREI 2000
    TDHLDRLPRD VAQERLHQDI VRLLDQPSGP RSPPGPHGLG PLLCPPGAFL 2050
    PGLKAAQSGS KKSRRPPGKA GLGPQGPRGR GKKLTLACPG PLADSSVTLS 2100
    PVDSLDSPRP FGGPPASPGG FPLEGPYAAA TATAVSLAQL GGPGRAGLGR 2150
    QPPGGCVLSL GLLNPVAVPL DWARLPPPAP PGPSFLLPLA PGPQLLNPGT 2200
    PVSPQERPPP YLAVPGHGEE YPAAGAHSSP PKARFLRVPS EHPYLTPSPE 2250
    SPEHWASPSP PSLSDWSEST PSPATATGAM ATTTGALPAQ PLPLSVPSSL 2300
    AQAQTQLGPQ PEVTPKRQVL A 2321
    Length:2,321
    Mass (Da):243,631
    Last modified:February 8, 2011 - v2
    Checksum:i3E70EC12A59CD638
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti43 – 431C → G in CADASIL. 2 Publications
    VAR_044230
    Natural varianti49 – 491C → F in CADASIL. 2 Publications
    VAR_044231
    Natural varianti49 – 491C → Y in CADASIL. 2 Publications
    VAR_012871
    Natural varianti54 – 541R → C in CADASIL. 1 Publication
    VAR_044232
    Natural varianti60 – 601S → C in CADASIL. 2 Publications
    VAR_044233
    Natural varianti65 – 651C → S in CADASIL. 2 Publications
    VAR_044234
    Natural varianti67 – 671C → Y in CADASIL. 1 Publication
    VAR_044235
    Natural varianti71 – 711W → C in CADASIL. 1 Publication
    Corresponds to variant rs28937321 [ dbSNP | Ensembl ].
    VAR_012872
    Natural varianti76 – 761C → R in CADASIL. 2 Publications
    VAR_044236
    Natural varianti76 – 761C → W in CADASIL. 2 Publications