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UniProtKB - Q75N90 (FBN3_HUMAN)

Protein

Fibrillin-3

Gene

FBN3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Fibrillin-3: 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 Publication

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • extracellular matrix structural constituent Source: GO_Central
View the complete GO annotation on QuickGO ...

Keywordsi

LigandCalcium

Enzyme and pathway databases

ReactomeiR-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1566948 Elastic fibre formation
R-HSA-2129379 Molecules associated with elastic fibres

Names & Taxonomyi

Protein namesi
Recommended name:
Fibrillin-3
Cleaved into the following chain:
Fibrillin-3 C-terminal peptideCurated
Gene namesi
Name:FBN3
Synonyms:KIAA1776
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000142449.12
HGNCiHGNC:18794 FBN3
MIMi608529 gene
neXtProtiNX_Q75N90

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi84467
OpenTargetsiENSG00000142449
PharmGKBiPA38681

Polymorphism and mutation databases

BioMutaiFBN3
DMDMi296439346

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 31Sequence analysisAdd BLAST31
PropeptideiPRO_000043689132 – 48CuratedAdd BLAST17
ChainiPRO_000000758649 – 2689Fibrillin-3Add BLAST2641
ChainiPRO_00004368922690 – 2809Fibrillin-3 C-terminal peptideBy similarityAdd BLAST120

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi151 ↔ 161PROSITE-ProRule annotation
Disulfide bondi155 ↔ 167PROSITE-ProRule annotation
Disulfide bondi169 ↔ 178PROSITE-ProRule annotation
Disulfide bondi251 ↔ 263PROSITE-ProRule annotation
Disulfide bondi258 ↔ 272PROSITE-ProRule annotation
Disulfide bondi274 ↔ 287PROSITE-ProRule annotation
Glycosylationi406N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi412 ↔ 424PROSITE-ProRule annotation
Disulfide bondi419 ↔ 433PROSITE-ProRule annotation
Disulfide bondi435 ↔ 447PROSITE-ProRule annotation
Disulfide bondi453 ↔ 463PROSITE-ProRule annotation
Disulfide bondi458 ↔ 472PROSITE-ProRule annotation
Disulfide bondi474 ↔ 487PROSITE-ProRule annotation
Disulfide bondi493 ↔ 505PROSITE-ProRule annotation
Disulfide bondi500 ↔ 514PROSITE-ProRule annotation
Disulfide bondi516 ↔ 529PROSITE-ProRule annotation
Disulfide bondi535 ↔ 546PROSITE-ProRule annotation
Disulfide bondi541 ↔ 555PROSITE-ProRule annotation
Disulfide bondi557 ↔ 570PROSITE-ProRule annotation
Disulfide bondi576 ↔ 587PROSITE-ProRule annotation
Disulfide bondi582 ↔ 596PROSITE-ProRule annotation
Disulfide bondi598 ↔ 611PROSITE-ProRule annotation
Disulfide bondi686 ↔ 698PROSITE-ProRule annotation
Disulfide bondi693 ↔ 707PROSITE-ProRule annotation
Disulfide bondi709 ↔ 722PROSITE-ProRule annotation
Disulfide bondi728 ↔ 740PROSITE-ProRule annotation
Disulfide bondi735 ↔ 749PROSITE-ProRule annotation
Disulfide bondi751 ↔ 764PROSITE-ProRule annotation
Disulfide bondi770 ↔ 780PROSITE-ProRule annotation
Disulfide bondi775 ↔ 789PROSITE-ProRule annotation
Disulfide bondi791 ↔ 804PROSITE-ProRule annotation
Disulfide bondi873 ↔ 885PROSITE-ProRule annotation
Disulfide bondi880 ↔ 894PROSITE-ProRule annotation
Disulfide bondi896 ↔ 909PROSITE-ProRule annotation
Disulfide bondi990 ↔ 1002PROSITE-ProRule annotation
Disulfide bondi997 ↔ 1011PROSITE-ProRule annotation
Disulfide bondi1013 ↔ 1026PROSITE-ProRule annotation
Glycosylationi1025N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1032 ↔ 1044PROSITE-ProRule annotation
Disulfide bondi1039 ↔ 1053PROSITE-ProRule annotation
Disulfide bondi1055 ↔ 1069PROSITE-ProRule annotation
Disulfide bondi1075 ↔ 1087PROSITE-ProRule annotation
Disulfide bondi1082 ↔ 1096PROSITE-ProRule annotation
Disulfide bondi1098 ↔ 1111PROSITE-ProRule annotation
Disulfide bondi1117 ↔ 1129PROSITE-ProRule annotation
Disulfide bondi1124 ↔ 1138PROSITE-ProRule annotation
Disulfide bondi1140 ↔ 1153PROSITE-ProRule annotation
Disulfide bondi1159 ↔ 1170PROSITE-ProRule annotation
Disulfide bondi1166 ↔ 1179PROSITE-ProRule annotation
Disulfide bondi1181 ↔ 1194PROSITE-ProRule annotation
Disulfide bondi1200 ↔ 1212PROSITE-ProRule annotation
Disulfide bondi1207 ↔ 1221PROSITE-ProRule annotation
Disulfide bondi1223 ↔ 1236PROSITE-ProRule annotation
Disulfide bondi1242 ↔ 1254PROSITE-ProRule annotation
Disulfide bondi1249 ↔ 1263PROSITE-ProRule annotation
Disulfide bondi1265 ↔ 1278PROSITE-ProRule annotation
Disulfide bondi1284 ↔ 1297PROSITE-ProRule annotation
Disulfide bondi1291 ↔ 1306PROSITE-ProRule annotation
Disulfide bondi1308 ↔ 1319PROSITE-ProRule annotation
Disulfide bondi1325 ↔ 1338PROSITE-ProRule annotation
Disulfide bondi1332 ↔ 1347PROSITE-ProRule annotation
Disulfide bondi1349 ↔ 1360PROSITE-ProRule annotation
Disulfide bondi1366 ↔ 1378PROSITE-ProRule annotation
Disulfide bondi1373 ↔ 1387PROSITE-ProRule annotation
Disulfide bondi1389 ↔ 1402PROSITE-ProRule annotation
Disulfide bondi1408 ↔ 1419PROSITE-ProRule annotation
Disulfide bondi1414 ↔ 1428PROSITE-ProRule annotation
Disulfide bondi1430 ↔ 1443PROSITE-ProRule annotation
Glycosylationi1442N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1449 ↔ 1460PROSITE-ProRule annotation
Disulfide bondi1455 ↔ 1469PROSITE-ProRule annotation
Disulfide bondi1471 ↔ 1484PROSITE-ProRule annotation
Glycosylationi1538N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1567 ↔ 1579PROSITE-ProRule annotation
Disulfide bondi1574 ↔ 1588PROSITE-ProRule annotation
Disulfide bondi1590 ↔ 1603PROSITE-ProRule annotation
Disulfide bondi1609 ↔ 1621PROSITE-ProRule annotation
Disulfide bondi1616 ↔ 1630PROSITE-ProRule annotation
Glycosylationi1627N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1632 ↔ 1645PROSITE-ProRule annotation
Glycosylationi1658N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1668N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1725 ↔ 1737PROSITE-ProRule annotation
Disulfide bondi1732 ↔ 1746PROSITE-ProRule annotation
Disulfide bondi1748 ↔ 1761PROSITE-ProRule annotation
Disulfide bondi1767 ↔ 1780PROSITE-ProRule annotation
Disulfide bondi1774 ↔ 1789PROSITE-ProRule annotation
Disulfide bondi1791 ↔ 1803PROSITE-ProRule annotation
Disulfide bondi1809 ↔ 1821PROSITE-ProRule annotation
Disulfide bondi1816 ↔ 1830PROSITE-ProRule annotation
Disulfide bondi1832 ↔ 1845PROSITE-ProRule annotation
Disulfide bondi1851 ↔ 1861PROSITE-ProRule annotation
Disulfide bondi1856 ↔ 1870PROSITE-ProRule annotation
Glycosylationi1858N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1872 ↔ 1884PROSITE-ProRule annotation
Disulfide bondi1890 ↔ 1903PROSITE-ProRule annotation
Disulfide bondi1898 ↔ 1912PROSITE-ProRule annotation
Disulfide bondi1914 ↔ 1927PROSITE-ProRule annotation
Disulfide bondi1933 ↔ 1945PROSITE-ProRule annotation
Disulfide bondi1940 ↔ 1954PROSITE-ProRule annotation
Disulfide bondi1956 ↔ 1967PROSITE-ProRule annotation
Disulfide bondi1973 ↔ 1985PROSITE-ProRule annotation
Disulfide bondi1980 ↔ 1994PROSITE-ProRule annotation
Disulfide bondi1996 ↔ 2009PROSITE-ProRule annotation
Glycosylationi2033N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2088 ↔ 2100PROSITE-ProRule annotation
Disulfide bondi2095 ↔ 2109PROSITE-ProRule annotation
Disulfide bondi2111 ↔ 2124PROSITE-ProRule annotation
Disulfide bondi2130 ↔ 2141PROSITE-ProRule annotation
Disulfide bondi2136 ↔ 2150PROSITE-ProRule annotation
Disulfide bondi2152 ↔ 2164PROSITE-ProRule annotation
Disulfide bondi2170 ↔ 2181PROSITE-ProRule annotation
Disulfide bondi2177 ↔ 2190PROSITE-ProRule annotation
Disulfide bondi2192 ↔ 2205PROSITE-ProRule annotation
Disulfide bondi2211 ↔ 2225PROSITE-ProRule annotation
Disulfide bondi2218 ↔ 2234PROSITE-ProRule annotation
Disulfide bondi2236 ↔ 2250PROSITE-ProRule annotation
Disulfide bondi2256 ↔ 2268PROSITE-ProRule annotation
Disulfide bondi2263 ↔ 2277PROSITE-ProRule annotation
Disulfide bondi2279 ↔ 2292PROSITE-ProRule annotation
Disulfide bondi2367 ↔ 2379PROSITE-ProRule annotation
Disulfide bondi2374 ↔ 2388PROSITE-ProRule annotation
Disulfide bondi2390 ↔ 2403PROSITE-ProRule annotation
Disulfide bondi2409 ↔ 2420PROSITE-ProRule annotation
Disulfide bondi2416 ↔ 2429PROSITE-ProRule annotation
Disulfide bondi2431 ↔ 2444PROSITE-ProRule annotation
Disulfide bondi2450 ↔ 2461PROSITE-ProRule annotation
Disulfide bondi2457 ↔ 2470PROSITE-ProRule annotation
Disulfide bondi2472 ↔ 2483PROSITE-ProRule annotation
Disulfide bondi2489 ↔ 2502PROSITE-ProRule annotation
Disulfide bondi2496 ↔ 2511PROSITE-ProRule annotation
Disulfide bondi2513 ↔ 2526PROSITE-ProRule annotation
Disulfide bondi2532 ↔ 2542PROSITE-ProRule annotation
Disulfide bondi2538 ↔ 2551PROSITE-ProRule annotation
Disulfide bondi2553 ↔ 2566PROSITE-ProRule annotation
Disulfide bondi2572 ↔ 2584PROSITE-ProRule annotation
Disulfide bondi2579 ↔ 2593PROSITE-ProRule annotation
Disulfide bondi2595 ↔ 2608PROSITE-ProRule annotation
Disulfide bondi2614 ↔ 2625PROSITE-ProRule annotation
Disulfide bondi2621 ↔ 2634PROSITE-ProRule annotation
Disulfide bondi2636 ↔ 2648PROSITE-ProRule annotation
Glycosylationi2713N-linked (GlcNAc...) asparagineSequence analysis1

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, Glycoprotein

Proteomic databases

EPDiQ75N90
PaxDbiQ75N90
PeptideAtlasiQ75N90
PRIDEiQ75N90
ProteomicsDBi68644

PTM databases

GlyConnecti1237
iPTMnetiQ75N90
PhosphoSitePlusiQ75N90

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

BgeeiENSG00000142449 Expressed in 87 organ(s), highest expression level in stomach
CleanExiHS_FBN3
ExpressionAtlasiQ75N90 baseline and differential
GenevisibleiQ75N90 HS

Organism-specific databases

HPAiHPA049482

Interactioni

Protein-protein interaction databases

BioGridi124100, 13 interactors
IntActiQ75N90, 15 interactors
MINTiQ75N90
STRINGi9606.ENSP00000270509

Structurei

3D structure databases

ProteinModelPortaliQ75N90
SMRiQ75N90
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini147 – 179EGF-like 1PROSITE-ProRule annotationAdd BLAST33
Domaini185 – 237TB 1Add BLAST53
Domaini247 – 288EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini293 – 346TB 2Add BLAST54
Domaini408 – 448EGF-like 3PROSITE-ProRule annotationAdd BLAST41
Domaini449 – 488EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini489 – 530EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini531 – 571EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini572 – 612EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini618 – 670TB 3Add BLAST53
Domaini682 – 723EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini724 – 765EGF-like 9; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini766 – 805EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini810 – 861TB 4Add BLAST52
Domaini869 – 910EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini915 – 966TB 5Add BLAST52
Domaini986 – 1027EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1028 – 1070EGF-like 13; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini1071 – 1112EGF-like 14; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1113 – 1154EGF-like 15; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1155 – 1195EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1196 – 1237EGF-like 17PROSITE-ProRule annotationAdd BLAST42
Domaini1238 – 1279EGF-like 18; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1280 – 1320EGF-like 19; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1321 – 1361EGF-like 20; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1362 – 1403EGF-like 21; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1404 – 1444EGF-like 22; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1445 – 1485EGF-like 23; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini1490 – 1546TB 6Add BLAST57
Domaini1563 – 1604EGF-like 24; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1605 – 1646EGF-like 25; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1651 – 1703TB 7Add BLAST53
Domaini1721 – 1762EGF-like 26; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1763 – 1804EGF-like 27; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1805 – 1846EGF-like 28PROSITE-ProRule annotationAdd BLAST42
Domaini1847 – 1885EGF-like 29; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini1886 – 1928EGF-like 30; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini1929 – 1968EGF-like 31; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini1969 – 2010EGF-like 32; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini2015 – 2068TB 8Add BLAST54
Domaini2084 – 2125EGF-like 33; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini2126 – 2165EGF-like 34; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini2166 – 2206EGF-like 35; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini2207 – 2251EGF-like 36; calcium-bindingPROSITE-ProRule annotationAdd BLAST45
Domaini2252 – 2293EGF-like 37; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini2298 – 2351TB 9Add BLAST54
Domaini2363 – 2404EGF-like 38; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini2405 – 2445EGF-like 39; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini2446 – 2484EGF-like 40; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini2485 – 2527EGF-like 41; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini2528 – 2567EGF-like 42; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini2568 – 2609EGF-like 43; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini2610 – 2649EGF-like 44; calcium-bindingPROSITE-ProRule annotationAdd BLAST40

Sequence similaritiesi

Belongs to the fibrillin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiKOG4193 Eukaryota
ENOG410XSD2 LUCA
GeneTreeiENSGT00760000118806
HOGENOMiHOG000231768
HOVERGENiHBG005643
InParanoidiQ75N90
OMAiHQCVACP
OrthoDBiEOG091G002H
PhylomeDBiQ75N90
TreeFamiTF316849

Family and domain databases

Gene3Di3.90.290.10, 9 hits
InterProiView protein in InterPro
IPR026823 cEGF
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR011398 FBN
IPR009030 Growth_fac_rcpt_cys_sf
IPR017878 TB_dom
IPR036773 TB_dom_sf
PANTHERiPTHR24039 PTHR24039, 1 hit
PfamiView protein in Pfam
PF12662 cEGF, 2 hits
PF07645 EGF_CA, 39 hits
PF12661 hEGF, 1 hit
PF00683 TB, 9 hits
SMARTiView protein in SMART
SM00181 EGF, 46 hits
SM00179 EGF_CA, 43 hits
SUPFAMiSSF57184 SSF57184, 12 hits
SSF57581 SSF57581, 9 hits
PROSITEiView 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

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q75N90-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:2,809
Mass (Da):300,356
Last modified:May 18, 2010 - v3
Checksum:iFE47EF22C1307C14
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QXL8M0QXL8_HUMAN
Fibrillin-3
FBN3
188Annotation score:
M0R2Q5M0R2Q5_HUMAN
Fibrillin-3
FBN3
171Annotation score:

Sequence cautioni

The sequence BAB47408 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019493119G → A. Corresponds to variant dbSNP:rs3813773Ensembl.1
Natural variantiVAR_055736329P → L. Corresponds to variant dbSNP:rs7246376Ensembl.1
Natural variantiVAR_055737371M → I. Corresponds to variant dbSNP:rs35999680Ensembl.1
Natural variantiVAR_019494473R → Q1 PublicationCorresponds to variant dbSNP:rs35277492Ensembl.1
Natural variantiVAR_055738542V → I. Corresponds to variant dbSNP:rs36124795Ensembl.1
Natural variantiVAR_019495662D → N3 PublicationsCorresponds to variant dbSNP:rs4804271Ensembl.1
Natural variantiVAR_055739868D → N. Corresponds to variant dbSNP:rs35025963Ensembl.1
Natural variantiVAR_019496935R → L1 Publication1
Natural variantiVAR_019497938V → F1 Publication1
Natural variantiVAR_0194981083R → W1 PublicationCorresponds to variant dbSNP:rs35579498Ensembl.1
Natural variantiVAR_0557401209Q → R. Corresponds to variant dbSNP:rs34684510Ensembl.1
Natural variantiVAR_0557411293S → G. Corresponds to variant dbSNP:rs4804063Ensembl.1
Natural variantiVAR_0194991293S → N. Corresponds to variant dbSNP:rs4804063Ensembl.1
Natural variantiVAR_0195001326V → I1 PublicationCorresponds to variant dbSNP:rs12975322Ensembl.1
Natural variantiVAR_0557421431N → I. Corresponds to variant dbSNP:rs17160194Ensembl.1
Natural variantiVAR_0195011614G → S2 PublicationsCorresponds to variant dbSNP:rs33967815Ensembl.1
Natural variantiVAR_0195021806R → Q1 PublicationCorresponds to variant dbSNP:rs3829817Ensembl.1
Natural variantiVAR_0557431850E → K. Corresponds to variant dbSNP:rs10404519Ensembl.1
Natural variantiVAR_0195031869N → K1 PublicationCorresponds to variant dbSNP:rs12150963Ensembl.1
Natural variantiVAR_0557441904L → F. Corresponds to variant dbSNP:rs12608849Ensembl.1
Natural variantiVAR_0195041904L → P1 PublicationCorresponds to variant dbSNP:rs12608849Ensembl.1
Natural variantiVAR_0557451939T → N. Corresponds to variant dbSNP:rs7245558Ensembl.1
Natural variantiVAR_0195051958P → H. Corresponds to variant dbSNP:rs7245429Ensembl.1
Natural variantiVAR_0557461966H → D. Corresponds to variant dbSNP:rs34167077Ensembl.1
Natural variantiVAR_0557472005N → T. Corresponds to variant dbSNP:rs17202741Ensembl.1
Natural variantiVAR_0557482314S → N. Corresponds to variant dbSNP:rs17160151Ensembl.1
Natural variantiVAR_0557492471R → H. Corresponds to variant dbSNP:rs3848570Ensembl.1
Natural variantiVAR_0557502540H → Q. Corresponds to variant dbSNP:rs35477781Ensembl.1
Natural variantiVAR_0557512594V → I. Corresponds to variant dbSNP:rs35318692Ensembl.1
Natural variantiVAR_0195062610E → 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.
CCDSiCCDS12196.1
RefSeqiNP_001308360.1, NM_001321431.1
NP_115823.3, NM_032447.4
XP_016882861.1, XM_017027372.1
UniGeneiHs.370362

Genome annotation databases

EnsembliENST00000270509; ENSP00000270509; ENSG00000142449
ENST00000600128; ENSP00000470498; ENSG00000142449
ENST00000601739; ENSP00000472324; ENSG00000142449
GeneIDi84467
KEGGihsa:84467
UCSCiuc002mjf.4 human

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS12196.1
RefSeqiNP_001308360.1, NM_001321431.1
NP_115823.3, NM_032447.4
XP_016882861.1, XM_017027372.1
UniGeneiHs.370362

3D structure databases

ProteinModelPortaliQ75N90
SMRiQ75N90
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124100, 13 interactors
IntActiQ75N90, 15 interactors
MINTiQ75N90
STRINGi9606.ENSP00000270509

PTM databases

GlyConnecti1237
iPTMnetiQ75N90
PhosphoSitePlusiQ75N90

Polymorphism and mutation databases

BioMutaiFBN3
DMDMi296439346

Proteomic databases

EPDiQ75N90
PaxDbiQ75N90
PeptideAtlasiQ75N90
PRIDEiQ75N90
ProteomicsDBi68644

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000270509; ENSP00000270509; ENSG00000142449
ENST00000600128; ENSP00000470498; ENSG00000142449
ENST00000601739; ENSP00000472324; ENSG00000142449
GeneIDi84467
KEGGihsa:84467
UCSCiuc002mjf.4 human

Organism-specific databases

CTDi84467
DisGeNETi84467
EuPathDBiHostDB:ENSG00000142449.12
GeneCardsiFBN3
H-InvDBiHIX0014707
HGNCiHGNC:18794 FBN3
HPAiHPA049482
MIMi608529 gene
neXtProtiNX_Q75N90
OpenTargetsiENSG00000142449
PharmGKBiPA38681
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4193 Eukaryota
ENOG410XSD2 LUCA
GeneTreeiENSGT00760000118806
HOGENOMiHOG000231768
HOVERGENiHBG005643
InParanoidiQ75N90
OMAiHQCVACP
OrthoDBiEOG091G002H
PhylomeDBiQ75N90
TreeFamiTF316849

Enzyme and pathway databases

ReactomeiR-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1566948 Elastic fibre formation
R-HSA-2129379 Molecules associated with elastic fibres

Miscellaneous databases

ChiTaRSiFBN3 human
GenomeRNAii84467
PROiPR:Q75N90
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000142449 Expressed in 87 organ(s), highest expression level in stomach
CleanExiHS_FBN3
ExpressionAtlasiQ75N90 baseline and differential
GenevisibleiQ75N90 HS

Family and domain databases

Gene3Di3.90.290.10, 9 hits
InterProiView protein in InterPro
IPR026823 cEGF
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR011398 FBN
IPR009030 Growth_fac_rcpt_cys_sf
IPR017878 TB_dom
IPR036773 TB_dom_sf
PANTHERiPTHR24039 PTHR24039, 1 hit
PfamiView protein in Pfam
PF12662 cEGF, 2 hits
PF07645 EGF_CA, 39 hits
PF12661 hEGF, 1 hit
PF00683 TB, 9 hits
SMARTiView protein in SMART
SM00181 EGF, 46 hits
SM00179 EGF_CA, 43 hits
SUPFAMiSSF57184 SSF57184, 12 hits
SSF57581 SSF57581, 9 hits
PROSITEiView 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
ProtoNetiSearch...

Entry informationi

Entry nameiFBN3_HUMAN
AccessioniPrimary (citable) accession number: Q75N90
Secondary accession number(s): Q75N91
, Q75N92, Q75N93, Q86SJ5, Q96JP8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 143 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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