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UniProtKB - Q75N90 (FBN3_HUMAN)
Protein
Fibrillin-3
Gene
FBN3
Organism
Homo sapiens (Human)
Status
Functioni
Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide long-term force bearing structural support.
1 PublicationGO - Molecular functioni
- calcium ion binding Source: InterPro
- extracellular matrix structural constituent Source: GO_Central
GO - Biological processi
- anatomical structure morphogenesis Source: GO_Central
Keywordsi
Ligand | Calcium |
Enzyme and pathway databases
PathwayCommonsi | Q75N90 |
Reactomei | R-HSA-1474228, Degradation of the extracellular matrix R-HSA-1566948, Elastic fibre formation R-HSA-2129379, Molecules associated with elastic fibres |
SignaLinki | Q75N90 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:FBN3 Synonyms:KIAA1776 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18794, FBN3 |
MIMi | 608529, gene |
neXtProti | NX_Q75N90 |
VEuPathDBi | HostDB:ENSG00000142449 |
Subcellular locationi
Extracellular region or secreted
- extracellular matrix 1 Publication
Extracellular region or secreted
- extracellular region Source: UniProtKB-KW
Other locations
- collagen-containing extracellular matrix Source: InterPro
- extracellular matrix Source: GO_Central
Keywords - Cellular componenti
Extracellular matrix, SecretedPathology & Biotechi
Organism-specific databases
DisGeNETi | 84467 |
OpenTargetsi | ENSG00000142449 |
PharmGKBi | PA38681 |
Miscellaneous databases
Pharosi | Q75N90, Tbio |
Chemistry databases
DrugBanki | DB11093, Calcium citrate DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate |
Genetic variation databases
BioMutai | FBN3 |
DMDMi | 296439346 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 31 | Sequence analysisAdd BLAST | 31 | |
PropeptideiPRO_0000436891 | 32 – 48 | CuratedAdd BLAST | 17 | |
ChainiPRO_0000007586 | 49 – 2689 | Fibrillin-3Add BLAST | 2641 | |
ChainiPRO_0000436892 | 2690 – 2809 | Fibrillin-3 C-terminal peptideBy similarityAdd BLAST | 120 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 151 ↔ 161 | PROSITE-ProRule annotation | ||
Disulfide bondi | 155 ↔ 167 | PROSITE-ProRule annotation | ||
Disulfide bondi | 169 ↔ 178 | PROSITE-ProRule annotation | ||
Disulfide bondi | 251 ↔ 263 | PROSITE-ProRule annotation | ||
Disulfide bondi | 258 ↔ 272 | PROSITE-ProRule annotation | ||
Disulfide bondi | 274 ↔ 287 | PROSITE-ProRule annotation | ||
Glycosylationi | 406 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 412 ↔ 424 | PROSITE-ProRule annotation | ||
Disulfide bondi | 419 ↔ 433 | PROSITE-ProRule annotation | ||
Disulfide bondi | 435 ↔ 447 | PROSITE-ProRule annotation | ||
Disulfide bondi | 453 ↔ 463 | PROSITE-ProRule annotation | ||
Disulfide bondi | 458 ↔ 472 | PROSITE-ProRule annotation | ||
Disulfide bondi | 474 ↔ 487 | PROSITE-ProRule annotation | ||
Disulfide bondi | 493 ↔ 505 | PROSITE-ProRule annotation | ||
Disulfide bondi | 500 ↔ 514 | PROSITE-ProRule annotation | ||
Disulfide bondi | 516 ↔ 529 | PROSITE-ProRule annotation | ||
Disulfide bondi | 535 ↔ 546 | PROSITE-ProRule annotation | ||
Disulfide bondi | 541 ↔ 555 | PROSITE-ProRule annotation | ||
Disulfide bondi | 557 ↔ 570 | PROSITE-ProRule annotation | ||
Disulfide bondi | 576 ↔ 587 | PROSITE-ProRule annotation | ||
Disulfide bondi | 582 ↔ 596 | PROSITE-ProRule annotation | ||
Disulfide bondi | 598 ↔ 611 | PROSITE-ProRule annotation | ||
Disulfide bondi | 686 ↔ 698 | PROSITE-ProRule annotation | ||
Disulfide bondi | 693 ↔ 707 | PROSITE-ProRule annotation | ||
Disulfide bondi | 709 ↔ 722 | PROSITE-ProRule annotation | ||
Disulfide bondi | 728 ↔ 740 | PROSITE-ProRule annotation | ||
Disulfide bondi | 735 ↔ 749 | PROSITE-ProRule annotation | ||
Disulfide bondi | 751 ↔ 764 | PROSITE-ProRule annotation | ||
Disulfide bondi | 770 ↔ 780 | PROSITE-ProRule annotation | ||
Disulfide bondi | 775 ↔ 789 | PROSITE-ProRule annotation | ||
Disulfide bondi | 791 ↔ 804 | PROSITE-ProRule annotation | ||
Disulfide bondi | 873 ↔ 885 | PROSITE-ProRule annotation | ||
Disulfide bondi | 880 ↔ 894 | PROSITE-ProRule annotation | ||
Disulfide bondi | 896 ↔ 909 | PROSITE-ProRule annotation | ||
Disulfide bondi | 990 ↔ 1002 | PROSITE-ProRule annotation | ||
Disulfide bondi | 997 ↔ 1011 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1013 ↔ 1026 | PROSITE-ProRule annotation | ||
Glycosylationi | 1025 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 1032 ↔ 1044 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1039 ↔ 1053 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1055 ↔ 1069 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1075 ↔ 1087 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1082 ↔ 1096 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1098 ↔ 1111 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1117 ↔ 1129 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1124 ↔ 1138 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1140 ↔ 1153 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1159 ↔ 1170 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1166 ↔ 1179 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1181 ↔ 1194 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1200 ↔ 1212 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1207 ↔ 1221 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1223 ↔ 1236 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1242 ↔ 1254 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1249 ↔ 1263 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1265 ↔ 1278 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1284 ↔ 1297 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1291 ↔ 1306 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1308 ↔ 1319 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1325 ↔ 1338 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1332 ↔ 1347 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1349 ↔ 1360 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1366 ↔ 1378 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1373 ↔ 1387 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1389 ↔ 1402 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1408 ↔ 1419 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1414 ↔ 1428 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1430 ↔ 1443 | PROSITE-ProRule annotation | ||
Glycosylationi | 1442 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 1449 ↔ 1460 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1455 ↔ 1469 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1471 ↔ 1484 | PROSITE-ProRule annotation | ||
Glycosylationi | 1538 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 1567 ↔ 1579 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1574 ↔ 1588 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1590 ↔ 1603 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1609 ↔ 1621 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1616 ↔ 1630 | PROSITE-ProRule annotation | ||
Glycosylationi | 1627 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 1632 ↔ 1645 | PROSITE-ProRule annotation | ||
Glycosylationi | 1658 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1668 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 1725 ↔ 1737 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1732 ↔ 1746 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1748 ↔ 1761 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1767 ↔ 1780 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1774 ↔ 1789 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1791 ↔ 1803 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1809 ↔ 1821 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1816 ↔ 1830 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1832 ↔ 1845 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1851 ↔ 1861 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1856 ↔ 1870 | PROSITE-ProRule annotation | ||
Glycosylationi | 1858 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 1872 ↔ 1884 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1890 ↔ 1903 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1898 ↔ 1912 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1914 ↔ 1927 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1933 ↔ 1945 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1940 ↔ 1954 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1956 ↔ 1967 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1973 ↔ 1985 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1980 ↔ 1994 | PROSITE-ProRule annotation | ||
Disulfide bondi | 1996 ↔ 2009 | PROSITE-ProRule annotation | ||
Glycosylationi | 2033 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 2088 ↔ 2100 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2095 ↔ 2109 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2111 ↔ 2124 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2130 ↔ 2141 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2136 ↔ 2150 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2152 ↔ 2164 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2170 ↔ 2181 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2177 ↔ 2190 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2192 ↔ 2205 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2211 ↔ 2225 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2218 ↔ 2234 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2236 ↔ 2250 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2256 ↔ 2268 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2263 ↔ 2277 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2279 ↔ 2292 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2367 ↔ 2379 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2374 ↔ 2388 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2390 ↔ 2403 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2409 ↔ 2420 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2416 ↔ 2429 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2431 ↔ 2444 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2450 ↔ 2461 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2457 ↔ 2470 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2472 ↔ 2483 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2489 ↔ 2502 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2496 ↔ 2511 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2513 ↔ 2526 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2532 ↔ 2542 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2538 ↔ 2551 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2553 ↔ 2566 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2572 ↔ 2584 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2579 ↔ 2593 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2595 ↔ 2608 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2614 ↔ 2625 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2621 ↔ 2634 | PROSITE-ProRule annotation | ||
Disulfide bondi | 2636 ↔ 2648 | PROSITE-ProRule annotation | ||
Glycosylationi | 2713 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Probably forms intermolecular disulfide bonds either with other FBN3 molecules or with other components of the microfibrils.By similarity
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q75N90 |
jPOSTi | Q75N90 |
MassIVEi | Q75N90 |
PaxDbi | Q75N90 |
PeptideAtlasi | Q75N90 |
PRIDEi | Q75N90 |
ProteomicsDBi | 68644 |
PTM databases
GlyConnecti | 1237, 13 N-Linked glycans (2 sites) |
GlyGeni | Q75N90, 10 sites, 13 N-linked glycans (2 sites) |
iPTMneti | Q75N90 |
PhosphoSitePlusi | Q75N90 |
Expressioni
Tissue specificityi
Predominantly expressed in connective tissues such as skeletal muscle, tendon, skin, perichondrium and periosteum. Highly expressed in fetal lung, brain, kidney. Expressed at low level in prostate, testis, mammary gland, uterus, ovary, placenta, bladder, adrenal gland, thyroid, fetal thymus, fetal liver, liver, fetal heart and heart.1 Publication
Gene expression databases
Bgeei | ENSG00000142449, Expressed in cortical plate and 113 other tissues |
ExpressionAtlasi | Q75N90, baseline and differential |
Genevisiblei | Q75N90, HS |
Organism-specific databases
HPAi | ENSG00000142449, Tissue enhanced (kidney, salivary gland) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 124100, 17 interactors |
IntActi | Q75N90, 15 interactors |
MINTi | Q75N90 |
STRINGi | 9606.ENSP00000470498 |
Miscellaneous databases
RNActi | Q75N90, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 147 – 179 | EGF-like 1PROSITE-ProRule annotationAdd BLAST | 33 | |
Domaini | 185 – 237 | TB 1Add BLAST | 53 | |
Domaini | 247 – 288 | EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 293 – 346 | TB 2Add BLAST | 54 | |
Domaini | 408 – 448 | EGF-like 3PROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 449 – 488 | EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 40 | |
Domaini | 489 – 530 | EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 531 – 571 | EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 572 – 612 | EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 618 – 670 | TB 3Add BLAST | 53 | |
Domaini | 682 – 723 | EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 724 – 765 | EGF-like 9; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 766 – 805 | EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 40 | |
Domaini | 810 – 861 | TB 4Add BLAST | 52 | |
Domaini | 869 – 910 | EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 915 – 966 | TB 5Add BLAST | 52 | |
Domaini | 986 – 1027 | EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 1028 – 1070 | EGF-like 13; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 43 | |
Domaini | 1071 – 1112 | EGF-like 14; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 1113 – 1154 | EGF-like 15; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 1155 – 1195 | EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 1196 – 1237 | EGF-like 17PROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 1238 – 1279 | EGF-like 18; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 1280 – 1320 | EGF-like 19; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 1321 – 1361 | EGF-like 20; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 1362 – 1403 | EGF-like 21; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 1404 – 1444 | EGF-like 22; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 1445 – 1485 | EGF-like 23; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 1490 – 1546 | TB 6Add BLAST | 57 | |
Domaini | 1563 – 1604 | EGF-like 24; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 1605 – 1646 | EGF-like 25; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 1651 – 1703 | TB 7Add BLAST | 53 | |
Domaini | 1721 – 1762 | EGF-like 26; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 1763 – 1804 | EGF-like 27; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 1805 – 1846 | EGF-like 28PROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 1847 – 1885 | EGF-like 29; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 39 | |
Domaini | 1886 – 1928 | EGF-like 30; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 43 | |
Domaini | 1929 – 1968 | EGF-like 31; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 40 | |
Domaini | 1969 – 2010 | EGF-like 32; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 2015 – 2068 | TB 8Add BLAST | 54 | |
Domaini | 2084 – 2125 | EGF-like 33; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 2126 – 2165 | EGF-like 34; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 40 | |
Domaini | 2166 – 2206 | EGF-like 35; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 2207 – 2251 | EGF-like 36; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 45 | |
Domaini | 2252 – 2293 | EGF-like 37; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 2298 – 2351 | TB 9Add BLAST | 54 | |
Domaini | 2363 – 2404 | EGF-like 38; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 2405 – 2445 | EGF-like 39; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 2446 – 2484 | EGF-like 40; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 39 | |
Domaini | 2485 – 2527 | EGF-like 41; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 43 | |
Domaini | 2528 – 2567 | EGF-like 42; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 40 | |
Domaini | 2568 – 2609 | EGF-like 43; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 2610 – 2649 | EGF-like 44; calcium-bindingPROSITE-ProRule annotationAdd BLAST | 40 |
Sequence similaritiesi
Belongs to the fibrillin family.Curated
Keywords - Domaini
EGF-like domain, Repeat, SignalPhylogenomic databases
eggNOGi | KOG1217, Eukaryota |
GeneTreei | ENSGT00950000183158 |
HOGENOMi | CLU_000233_0_0_1 |
InParanoidi | Q75N90 |
OMAi | ACEDHRA |
OrthoDBi | 1174178at2759 |
PhylomeDBi | Q75N90 |
TreeFami | TF316849 |
Family and domain databases
Gene3Di | 3.90.290.10, 9 hits |
InterProi | View protein in InterPro IPR026823, cEGF IPR001881, EGF-like_Ca-bd_dom IPR000742, EGF-like_dom IPR000152, EGF-type_Asp/Asn_hydroxyl_site IPR018097, EGF_Ca-bd_CS IPR024731, EGF_dom IPR011398, FBN IPR040872, Fibrillin_U_N IPR009030, Growth_fac_rcpt_cys_sf IPR017878, TB_dom IPR036773, TB_dom_sf |
PANTHERi | PTHR24039:SF0, PTHR24039:SF0, 7 hits |
Pfami | View protein in Pfam PF12662, cEGF, 2 hits PF12947, EGF_3, 1 hit PF07645, EGF_CA, 38 hits PF18193, Fibrillin_U_N, 1 hit PF00683, TB, 9 hits |
SMARTi | View protein in SMART SM00181, EGF, 46 hits SM00179, EGF_CA, 43 hits |
SUPFAMi | SSF57184, SSF57184, 12 hits SSF57581, SSF57581, 9 hits |
PROSITEi | View protein in PROSITE PS00010, ASX_HYDROXYL, 41 hits PS00022, EGF_1, 2 hits PS01186, EGF_2, 36 hits PS50026, EGF_3, 44 hits PS01187, EGF_CA, 40 hits PS51364, TB, 9 hits |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
Q75N90-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MTLEGLYLAR GPLARLLLAW SALLCMAGGQ GRWDGALEAA GPGRVRRRGS
60 70 80 90 100
PGILQGPNVC GSRFHAYCCP GWRTFPGRSQ CVVPICRRAC GEGFCSQPNL
110 120 130 140 150
CTCADGTLAP SCGVSRGSGC SVSCMNGGTC RGASCLCQKG YTGTVCGQPI
160 170 180 190 200
CDRGCHNGGR CIGPNRCACV YGFMGPQCER DYRTGPCFGQ VGPEGCQHQL
210 220 230 240 250
TGLVCTKALC CATVGRAWGL PCELCPAQPH PCRRGFIPNI HTGACQDVDE
260 270 280 290 300
CQAVPGLCQG GSCVNMVGSF HCRCPVGHRL SDSSAACEDY RAGACFSVLF
310 320 330 340 350
GGRCAGDLAG HYTRRQCCCD RGRCWAAGPV PELCPPRGSN EFQQLCAQRL
360 370 380 390 400
PLLPGHPGLF PGLLGFGSNG MGPPLGPARL NPHGSDARGI PSLGPGNSNI
410 420 430 440 450
GTATLNQTID ICRHFTNLCL NGRCLPTPSS YRCECNVGYT QDVRGECIDV
460 470 480 490 500
DECTSSPCHH GDCVNIPGTY HCRCYPGFQA TPTRQACVDV DECIVSGGLC
510 520 530 540 550
HLGRCVNTEG SFQCVCNAGF ELSPDGKNCV DHNECATSTM CVNGVCLNED
560 570 580 590 600
GSFSCLCKPG FLLAPGGHYC MDIDECQTPG ICVNGHCTNT EGSFRCQCLG
610 620 630 640 650
GLAVGTDGRV CVDTHVRSTC YGAIEKGSCA RPFPGTVTKS ECCCANPDHG
660 670 680 690 700
FGEPCQLCPA KDSAEFQALC SSGLGITTDG RDINECALDP EVCANGVCEN
710 720 730 740 750
LRGSYRCVCN LGYEAGASGK DCTDVDECAL NSLLCDNGWC QNSPGSYSCS
760 770 780 790 800
CPPGFHFWQD TEICKDVDEC LSSPCVSGVC RNLAGSYTCK CGPGSRLDPS
810 820 830 840 850
GTFCLDSTKG TCWLKIQESR CEVNLQGASL RSECCATLGA AWGSPCERCE
860 870 880 890 900
IDPACARGFA RMTGVTCDDV NECESFPGVC PNGRCVNTAG SFRCECPEGL
910 920 930 940 950
MLDASGRLCV DVRLEPCFLR WDEDECGVTL PGKYRMDVCC CSIGAVWGVE
960 970 980 990 1000
CEACPDPESL EFASLCPRGL GFASRDFLSG RPFYKDVNEC KVFPGLCTHG
1010 1020 1030 1040 1050
TCRNTVGSFH CACAGGFALD AQERNCTDID ECRISPDLCG QGTCVNTPGS
1060 1070 1080 1090 1100
FECECFPGYE SGFMLMKNCM DVDECARDPL LCRGGTCTNT DGSYKCQCPP
1110 1120 1130 1140 1150
GHELTAKGTA CEDIDECSLS DGLCPHGQCV NVIGAFQCSC HAGFQSTPDR
1160 1170 1180 1190 1200
QGCVDINECR VQNGGCDVHC INTEGSYRCS CGQGYSLMPD GRACADVDEC
1210 1220 1230 1240 1250
EENPRVCDQG HCTNMPGGHR CLCYDGFMAT PDMRTCVDVD ECDLNPHICL
1260 1270 1280 1290 1300
HGDCENTKGS FVCHCQLGYM VRKGATGCSD VDECEVGGHN CDSHASCLNI
1310 1320 1330 1340 1350
PGSFSCRCLP GWVGDGFECH DLDECVSQEH RCSPRGDCLN VPGSYRCTCR
1360 1370 1380 1390 1400
QGFAGDGFFC EDRDECAENV DLCDNGQCLN APGGYRCECE MGFDPTEDHR
1410 1420 1430 1440 1450
ACQDVDECAQ GNLCAFGSCE NLPGMFRCIC NGGYELDRGG GNCTDINECA
1460 1470 1480 1490 1500
DPVNCINGVC INTPGSYLCS CPQDFELNPS GVGCVDTRAG NCFLETHDRG
1510 1520 1530 1540 1550
DSGISCSAEI GVGVTRASCC CSLGRAWGNP CELCPMANTT EYRTLCPGGE
1560 1570 1580 1590 1600
GFQPNRITVI LEDIDECQEL PGLCQGGDCV NTFGSFQCEC PPGYHLSEHT
1610 1620 1630 1640 1650
RICEDIDECS THSGICGPGT CYNTLGNYTC VCPAEYLQVN GGNNCMDMRK
1660 1670 1680 1690 1700
SVCFRHYNGT CQNELAFNVT RKMCCCSYNI GQAWNRPCEA CPTPISPDYQ
1710 1720 1730 1740 1750
ILCGNQAPGF LTDIHTGKPL DIDECGEIPA ICANGICINQ IGSFRCECPA
1760 1770 1780 1790 1800
GFNYNSILLA CEDVDECGSR ESPCQQNADC INIPGSYRCK CTRGYKLSPG
1810 1820 1830 1840 1850
GACVGRNECR EIPNVCSHGD CMDTEGSYMC LCHRGFQASA DQTLCMDIDE
1860 1870 1880 1890 1900
CDRQPCGNGT CKNIIGSYNC LCFPGFVVTH NGDCVDFDEC TTLVGQVCRF
1910 1920 1930 1940 1950
GHCLNTAGSF HCLCQDGFEL TADGKNCVDT NECLSLAGTC LPGTCQNLEG
1960 1970 1980 1990 2000
SFRCICPPGF QVQSDHCIDI DECSEEPNLC LFGTCTNSPG SFQCLCPPGF
2010 2020 2030 2040 2050
VLSDNGHRCF DTRQSFCFTR FEAGKCSVPK AFNTTKTRCC CSKRPGEGWG
2060 2070 2080 2090 2100
DPCELCPQEG SAAFQELCPF GHGAVPGPDD SREDVNECAE NPGVCTNGVC
2110 2120 2130 2140 2150
VNTDGSFRCE CPFGYSLDFT GINCVDTDEC SVGHPCGQGT CTNVIGGFEC
2160 2170 2180 2190 2200
ACADGFEPGL MMTCEDIDEC SLNPLLCAFR CHNTEGSYLC TCPAGYTLRE
2210 2220 2230 2240 2250
DGAMCRDVDE CADGQQDCHA RGMECKNLIG TFACVCPPGM RPLPGSGEGC
2260 2270 2280 2290 2300
TDDNECHAQP DLCVNGRCVN TAGSFRCDCD EGFQPSPTLT ECHDIRQGPC
2310 2320 2330 2340 2350
FAEVLQTMCR SLSSSSEAVT RAECCCGGGR GWGPRCELCP LPGTSAYRKL
2360 2370 2380 2390 2400
CPHGSGYTAE GRDVDECRML AHLCAHGECI NSLGSFRCHC QAGYTPDATA
2410 2420 2430 2440 2450
TTCLDMDECS QVPKPCTFLC KNTKGSFLCS CPRGYLLEED GRTCKDLDEC
2460 2470 2480 2490 2500
TSRQHNCQFL CVNTVGAFTC RCPPGFTQHH QACFDNDECS AQPGPCGAHG
2510 2520 2530 2540 2550
HCHNTPGSFR CECHQGFTLV SSGHGCEDVN ECDGPHRCQH GCQNQLGGYR
2560 2570 2580 2590 2600
CSCPQGFTQH SQWAQCVDEN ECALSPPTCG SASCRNTLGG FRCVCPSGFD
2610 2620 2630 2640 2650
FDQALGGCQE VDECAGRRGP CSYSCANTPG GFLCGCPQGY FRAGQGHCVS
2660 2670 2680 2690 2700
GLGFSPGPQD TPDKEELLSS EACYECKING LSPRDRPRRS AHRDHQVNLA
2710 2720 2730 2740 2750
TLDSEALLTL GLNLSHLGRA ERILELRPAL EGLEGRIRYV IVRGNEQGFF
2760 2770 2780 2790 2800
RMHHLRGVSS LQLGRRRPGP GTYRLEVVSH MAGPWGVQPE GQPGPWGQAL
RLKVQLQLL
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A494C0D8 | A0A494C0D8_HUMAN | Fibrillin-3 | FBN3 | 2,851 | Annotation score: | ||
M0QXL8 | M0QXL8_HUMAN | Fibrillin-3 | FBN3 | 188 | Annotation score: | ||
M0R2Q5 | M0R2Q5_HUMAN | Fibrillin-3 | FBN3 | 171 | Annotation score: |
Sequence cautioni
The sequence BAB47408 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_019493 | 119 | G → A. Corresponds to variant dbSNP:rs3813773Ensembl. | 1 | |
Natural variantiVAR_055736 | 329 | P → L. Corresponds to variant dbSNP:rs7246376Ensembl. | 1 | |
Natural variantiVAR_055737 | 371 | M → I. Corresponds to variant dbSNP:rs35999680Ensembl. | 1 | |
Natural variantiVAR_019494 | 473 | R → Q1 PublicationCorresponds to variant dbSNP:rs35277492Ensembl. | 1 | |
Natural variantiVAR_055738 | 542 | V → I. Corresponds to variant dbSNP:rs36124795Ensembl. | 1 | |
Natural variantiVAR_019495 | 662 | D → N3 PublicationsCorresponds to variant dbSNP:rs4804271Ensembl. | 1 | |
Natural variantiVAR_055739 | 868 | D → N. Corresponds to variant dbSNP:rs35025963Ensembl. | 1 | |
Natural variantiVAR_019496 | 935 | R → L1 Publication | 1 | |
Natural variantiVAR_019497 | 938 | V → F1 Publication | 1 | |
Natural variantiVAR_019498 | 1083 | R → W1 PublicationCorresponds to variant dbSNP:rs35579498Ensembl. | 1 | |
Natural variantiVAR_055740 | 1209 | Q → R. Corresponds to variant dbSNP:rs34684510EnsemblClinVar. | 1 | |
Natural variantiVAR_055741 | 1293 | S → G. Corresponds to variant dbSNP:rs4804063Ensembl. | 1 | |
Natural variantiVAR_019499 | 1293 | S → N. Corresponds to variant dbSNP:rs4804063Ensembl. | 1 | |
Natural variantiVAR_019500 | 1326 | V → I1 PublicationCorresponds to variant dbSNP:rs12975322Ensembl. | 1 | |
Natural variantiVAR_055742 | 1431 | N → I. Corresponds to variant dbSNP:rs17160194EnsemblClinVar. | 1 | |
Natural variantiVAR_019501 | 1614 | G → S2 PublicationsCorresponds to variant dbSNP:rs33967815Ensembl. | 1 | |
Natural variantiVAR_019502 | 1806 | R → Q1 PublicationCorresponds to variant dbSNP:rs3829817Ensembl. | 1 | |
Natural variantiVAR_055743 | 1850 | E → K. Corresponds to variant dbSNP:rs10404519EnsemblClinVar. | 1 | |
Natural variantiVAR_019503 | 1869 | N → K1 PublicationCorresponds to variant dbSNP:rs12150963Ensembl. | 1 | |
Natural variantiVAR_055744 | 1904 | L → F. Corresponds to variant dbSNP:rs12608849Ensembl. | 1 | |
Natural variantiVAR_019504 | 1904 | L → P1 PublicationCorresponds to variant dbSNP:rs12608849Ensembl. | 1 | |
Natural variantiVAR_055745 | 1939 | T → N. Corresponds to variant dbSNP:rs7245558EnsemblClinVar. | 1 | |
Natural variantiVAR_019505 | 1958 | P → H. Corresponds to variant dbSNP:rs7245429Ensembl. | 1 | |
Natural variantiVAR_055746 | 1966 | H → D. Corresponds to variant dbSNP:rs34167077Ensembl. | 1 | |
Natural variantiVAR_055747 | 2005 | N → T. Corresponds to variant dbSNP:rs17202741Ensembl. | 1 | |
Natural variantiVAR_055748 | 2314 | S → N. Corresponds to variant dbSNP:rs17160151Ensembl. | 1 | |
Natural variantiVAR_055749 | 2471 | R → H. Corresponds to variant dbSNP:rs3848570Ensembl. | 1 | |
Natural variantiVAR_055750 | 2540 | H → Q. Corresponds to variant dbSNP:rs35477781Ensembl. | 1 | |
Natural variantiVAR_055751 | 2594 | V → I. Corresponds to variant dbSNP:rs35318692EnsemblClinVar. | 1 | |
Natural variantiVAR_019506 | 2610 | E → D3 PublicationsCorresponds to variant dbSNP:rs7257948Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY165863 mRNA Translation: AAO18145.1 AY165864 mRNA Translation: AAO18146.1 AY165865 mRNA Translation: AAO18147.1 AB177797 Genomic DNA Translation: BAD16733.1 AB177798 Genomic DNA Translation: BAD16734.1 AB177799 Genomic DNA Translation: BAD16735.1 AB177800 Genomic DNA Translation: BAD16736.1 AB053450 mRNA Translation: BAB47408.2 Different initiation. AC008946 Genomic DNA No translation available. AC022146 Genomic DNA No translation available. |
CCDSi | CCDS12196.1 |
RefSeqi | NP_001308360.1, NM_001321431.1 NP_115823.3, NM_032447.4 XP_016882861.1, XM_017027372.1 |
Genome annotation databases
Ensembli | ENST00000270509.6; ENSP00000270509.2; ENSG00000142449.13 ENST00000600128.6; ENSP00000470498.1; ENSG00000142449.13 ENST00000601739.5; ENSP00000472324.1; ENSG00000142449.13 |
GeneIDi | 84467 |
KEGGi | hsa:84467 |
MANE-Selecti | ENST00000600128.6; ENSP00000470498.1; NM_032447.5; NP_115823.3 |
UCSCi | uc002mjf.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY165863 mRNA Translation: AAO18145.1 AY165864 mRNA Translation: AAO18146.1 AY165865 mRNA Translation: AAO18147.1 AB177797 Genomic DNA Translation: BAD16733.1 AB177798 Genomic DNA Translation: BAD16734.1 AB177799 Genomic DNA Translation: BAD16735.1 AB177800 Genomic DNA Translation: BAD16736.1 AB053450 mRNA Translation: BAB47408.2 Different initiation. AC008946 Genomic DNA No translation available. AC022146 Genomic DNA No translation available. |
CCDSi | CCDS12196.1 |
RefSeqi | NP_001308360.1, NM_001321431.1 NP_115823.3, NM_032447.4 XP_016882861.1, XM_017027372.1 |
3D structure databases
SMRi | Q75N90 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124100, 17 interactors |
IntActi | Q75N90, 15 interactors |
MINTi | Q75N90 |
STRINGi | 9606.ENSP00000470498 |
Chemistry databases
DrugBanki | DB11093, Calcium citrate DB11348, Calcium Phosphate DB14481, Calcium phosphate dihydrate |
PTM databases
GlyConnecti | 1237, 13 N-Linked glycans (2 sites) |
GlyGeni | Q75N90, 10 sites, 13 N-linked glycans (2 sites) |
iPTMneti | Q75N90 |
PhosphoSitePlusi | Q75N90 |
Genetic variation databases
BioMutai | FBN3 |
DMDMi | 296439346 |
Proteomic databases
EPDi | Q75N90 |
jPOSTi | Q75N90 |
MassIVEi | Q75N90 |
PaxDbi | Q75N90 |
PeptideAtlasi | Q75N90 |
PRIDEi | Q75N90 |
ProteomicsDBi | 68644 |
Protocols and materials databases
Antibodypediai | 63727, 27 antibodies from 9 providers |
DNASUi | 84467 |
Genome annotation databases
Ensembli | ENST00000270509.6; ENSP00000270509.2; ENSG00000142449.13 ENST00000600128.6; ENSP00000470498.1; ENSG00000142449.13 ENST00000601739.5; ENSP00000472324.1; ENSG00000142449.13 |
GeneIDi | 84467 |
KEGGi | hsa:84467 |
MANE-Selecti | ENST00000600128.6; ENSP00000470498.1; NM_032447.5; NP_115823.3 |
UCSCi | uc002mjf.4, human |
Organism-specific databases
CTDi | 84467 |
DisGeNETi | 84467 |
GeneCardsi | FBN3 |
HGNCi | HGNC:18794, FBN3 |
HPAi | ENSG00000142449, Tissue enhanced (kidney, salivary gland) |
MIMi | 608529, gene |
neXtProti | NX_Q75N90 |
OpenTargetsi | ENSG00000142449 |
PharmGKBi | PA38681 |
VEuPathDBi | HostDB:ENSG00000142449 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1217, Eukaryota |
GeneTreei | ENSGT00950000183158 |
HOGENOMi | CLU_000233_0_0_1 |
InParanoidi | Q75N90 |
OMAi | ACEDHRA |
OrthoDBi | 1174178at2759 |
PhylomeDBi | Q75N90 |
TreeFami | TF316849 |
Enzyme and pathway databases
PathwayCommonsi | Q75N90 |
Reactomei | R-HSA-1474228, Degradation of the extracellular matrix R-HSA-1566948, Elastic fibre formation R-HSA-2129379, Molecules associated with elastic fibres |
SignaLinki | Q75N90 |
Miscellaneous databases
BioGRID-ORCSi | 84467, 31 hits in 1067 CRISPR screens |
ChiTaRSi | FBN3, human |
GenomeRNAii | 84467 |
Pharosi | Q75N90, Tbio |
PROi | PR:Q75N90 |
RNActi | Q75N90, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000142449, Expressed in cortical plate and 113 other tissues |
ExpressionAtlasi | Q75N90, baseline and differential |
Genevisiblei | Q75N90, HS |
Family and domain databases
Gene3Di | 3.90.290.10, 9 hits |
InterProi | View protein in InterPro IPR026823, cEGF IPR001881, EGF-like_Ca-bd_dom IPR000742, EGF-like_dom IPR000152, EGF-type_Asp/Asn_hydroxyl_site IPR018097, EGF_Ca-bd_CS IPR024731, EGF_dom IPR011398, FBN IPR040872, Fibrillin_U_N IPR009030, Growth_fac_rcpt_cys_sf IPR017878, TB_dom IPR036773, TB_dom_sf |
PANTHERi | PTHR24039:SF0, PTHR24039:SF0, 7 hits |
Pfami | View protein in Pfam PF12662, cEGF, 2 hits PF12947, EGF_3, 1 hit PF07645, EGF_CA, 38 hits PF18193, Fibrillin_U_N, 1 hit PF00683, TB, 9 hits |
SMARTi | View protein in SMART SM00181, EGF, 46 hits SM00179, EGF_CA, 43 hits |
SUPFAMi | SSF57184, SSF57184, 12 hits SSF57581, SSF57581, 9 hits |
PROSITEi | View protein in PROSITE PS00010, ASX_HYDROXYL, 41 hits PS00022, EGF_1, 2 hits PS01186, EGF_2, 36 hits PS50026, EGF_3, 44 hits PS01187, EGF_CA, 40 hits PS51364, TB, 9 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | FBN3_HUMAN | |
Accessioni | Q75N90Primary (citable) accession number: Q75N90 Secondary accession number(s): Q75N91 Q96JP8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2004 |
Last sequence update: | May 18, 2010 | |
Last modified: | May 25, 2022 | |
This is version 165 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families