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Q9UM47

- NOTC3_HUMAN

UniProt

Q9UM47 - NOTC3_HUMAN

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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

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.

Sites

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

GO - Molecular functioni

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

GO - Biological processi

  1. Notch receptor processing Source: Reactome
  2. Notch signaling pathway Source: Reactome
  3. forebrain development Source: Ensembl
  4. gene expression Source: Reactome
  5. glomerular capillary formation Source: Ensembl
  6. negative regulation of neuron differentiation Source: Ensembl
  7. neuron fate commitment Source: Ensembl
  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
Complete GO annotation...

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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini40 – 16431604Extracellular Reviewed prediction
Add
BLAST
Transmembranei1644 – 166421Helical; Reviewed prediction
Add
BLAST
Topological domaini1665 – 2321657Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: Reactome
  2. actin cytoskeleton Source: HPA
  3. cytoplasm Source: HPA
  4. cytosol Source: Reactome
  5. endoplasmic reticulum membrane Source: Reactome
  6. extracellular region 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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.21 Publications
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. 4 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.
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.
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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 – 3939 Reviewed prediction
Add
BLAST
Chaini40 – 23212282Neurogenic locus notch homolog protein 3
PRO_0000007692Add
BLAST
Chaini1629 – 2321693Notch 3 extracellular truncation By similarity
PRO_0000007693Add
BLAST
Chaini1662 – 2321660Notch 3 intracellular domain By similarity
PRO_0000007694Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi43 ↔ 55 By similarity
Disulfide bondi49 ↔ 65 By similarity
Disulfide bondi67 ↔ 76 By similarity
Disulfide bondi82 ↔ 93 By similarity
Disulfide bondi87 ↔ 106 By similarity
Disulfide bondi108 ↔ 117 By similarity
Disulfide bondi123 ↔ 134 By similarity
Disulfide bondi128 ↔ 144 By similarity
Disulfide bondi146 ↔ 155 By similarity
Disulfide bondi162 ↔ 174 By similarity
Disulfide bondi168 ↔ 183 By similarity
Disulfide bondi185 ↔ 194 By similarity
Disulfide bondi201 ↔ 212 By similarity
Disulfide bondi206 ↔ 222 By similarity
Disulfide bondi224 ↔ 233 By similarity
Disulfide bondi240 ↔ 251 By similarity
Disulfide bondi245 ↔ 260 By similarity
Disulfide bondi262 ↔ 271 By similarity
Disulfide bondi278 ↔ 291 By similarity
Disulfide bondi285 ↔ 300 By similarity
Disulfide bondi302 ↔ 311 By similarity
Disulfide bondi318 ↔ 329 By similarity
Disulfide bondi323 ↔ 338 By similarity
Disulfide bondi340 ↔ 349 By similarity
Disulfide bondi355 ↔ 366 By similarity
Disulfide bondi360 ↔ 377 By similarity
Disulfide bondi379 ↔ 388 By similarity
Disulfide bondi395 ↔ 408 By similarity
Disulfide bondi402 ↔ 417 By similarity
Disulfide bondi419 ↔ 428 By similarity
Disulfide bondi435 ↔ 446 By similarity
Disulfide bondi440 ↔ 455 By similarity
Disulfide bondi457 ↔ 466 By similarity
Disulfide bondi473 ↔ 484 By similarity
Disulfide bondi478 ↔ 493 By similarity
Disulfide bondi495 ↔ 504 By similarity
Disulfide bondi511 ↔ 522 By similarity
Disulfide bondi516 ↔ 531 By similarity
Disulfide bondi533 ↔ 542 By similarity
Disulfide bondi549 ↔ 559 By similarity
Disulfide bondi554 ↔ 568 By similarity
Disulfide bondi570 ↔ 579 By similarity
Disulfide bondi586 ↔ 597 By similarity
Disulfide bondi591 ↔ 606 By similarity
Disulfide bondi608 ↔ 617 By similarity
Disulfide bondi624 ↔ 634 By similarity
Disulfide bondi629 ↔ 643 By similarity
Disulfide bondi645 ↔ 654 By similarity
Disulfide bondi661 ↔ 672 By similarity
Disulfide bondi666 ↔ 681 By similarity
Disulfide bondi683 ↔ 692 By similarity
Disulfide bondi699 ↔ 709 By similarity
Disulfide bondi704 ↔ 718 By similarity
Disulfide bondi720 ↔ 729 By similarity
Disulfide bondi738 ↔ 749 By similarity
Disulfide bondi743 ↔ 758 By similarity
Disulfide bondi760 ↔ 769 By similarity
Disulfide bondi775 ↔ 786 By similarity
Disulfide bondi780 ↔ 796 By similarity
Disulfide bondi798 ↔ 807 By similarity
Disulfide bondi814 ↔ 826 By similarity
Disulfide bondi820 ↔ 835 By similarity
Disulfide bondi837 ↔ 846 By similarity
Disulfide bondi853 ↔ 864 By similarity
Disulfide bondi858 ↔ 873 By similarity
Disulfide bondi875 ↔ 884 By similarity
Disulfide bondi891 ↔ 901 By similarity
Disulfide bondi896 ↔ 910 By similarity
Disulfide bondi912 ↔ 921 By similarity
Disulfide bondi928 ↔ 939 By similarity
Disulfide bondi933 ↔ 948 By similarity
Disulfide bondi950 ↔ 959 By similarity
Disulfide bondi966 ↔ 977 By similarity
Disulfide bondi971 ↔ 986 By similarity
Disulfide bondi988 ↔ 997 By similarity
Disulfide bondi1004 ↔ 1015 By similarity
Disulfide bondi1009 ↔ 1022 By similarity
Disulfide bondi1024 ↔ 1033 By similarity
Disulfide bondi1040 ↔ 1061 By similarity
Disulfide bondi1055 ↔ 1070 By similarity
Disulfide bondi1072 ↔ 1081 By similarity
Disulfide bondi1088 ↔ 1099 By similarity
Disulfide bondi1093 ↔ 1108 By similarity
Disulfide bondi1110 ↔ 1119 By similarity
Disulfide bondi1126 ↔ 1137 By similarity
Disulfide bondi1131 ↔ 1146 By similarity
Disulfide bondi1148 ↔ 1157 By similarity
Disulfide bondi1164 ↔ 1182 By similarity
Disulfide bondi1176 ↔ 1191 By similarity
Glycosylationi1179 – 11791N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1193 ↔ 1202 By similarity
Disulfide bondi1209 ↔ 1222 By similarity
Disulfide bondi1214 ↔ 1232 By similarity
Disulfide bondi1234 ↔ 1243 By similarity
Disulfide bondi1250 ↔ 1261 By similarity
Disulfide bondi1255 ↔ 1275 By similarity
Disulfide bondi1277 ↔ 1286 By similarity
Disulfide bondi1293 ↔ 1304 By similarity
Disulfide bondi1298 ↔ 1313 By similarity
Disulfide bondi1315 ↔ 1324 By similarity
Glycosylationi1336 – 13361N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1339 ↔ 1350 By similarity
Disulfide bondi1344 ↔ 1361 By similarity
Disulfide bondi1363 ↔ 1372 By similarity
Disulfide bondi1387 ↔ 1410 By similarity
Disulfide bondi1392 ↔ 1405 By similarity
Disulfide bondi1401 ↔ 1417 By similarity
Disulfide bondi1428 ↔ 1451 By similarity
Disulfide bondi1433 ↔ 1446 By similarity
Glycosylationi1438 – 14381N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1442 ↔ 1458 By similarity
Disulfide bondi1467 ↔ 1493 By similarity
Disulfide bondi1475 ↔ 1488 By similarity
Disulfide bondi1484 ↔ 1500 By 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.
Phosphorylated By similarity.
Hydroxylated by HIF1AN.

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.4 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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Belongs to the NOTCH family.
Contains 5 ANK repeats.
Contains 34 EGF-like domains.

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

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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. 4 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