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Q75N90

- FBN3_HUMAN

UniProt

Q75N90 - FBN3_HUMAN

Protein

Fibrillin-3

Gene

FBN3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    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 Publication

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. extracellular matrix structural constituent Source: InterPro

    Keywords - Ligandi

    Calcium

    Enzyme and pathway databases

    ReactomeiREACT_118572. Degradation of the extracellular matrix.
    REACT_150331. Molecules associated with elastic fibres.
    REACT_150366. Elastic fibre formation.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fibrillin-3
    Gene namesi
    Name:FBN3
    Synonyms:KIAA1776
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:18794. FBN3.

    Subcellular locationi

    Secretedextracellular spaceextracellular matrix 1 Publication

    GO - Cellular componenti

    1. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38681.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3131Sequence AnalysisAdd
    BLAST
    Chaini32 – 28092778Fibrillin-3PRO_0000007586Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    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
    Glycosylationi406 – 4061N-linked (GlcNAc...)Sequence Analysis
    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
    Glycosylationi1025 – 10251N-linked (GlcNAc...)Sequence Analysis
    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
    Glycosylationi1442 – 14421N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1449 ↔ 1460PROSITE-ProRule annotation
    Disulfide bondi1455 ↔ 1469PROSITE-ProRule annotation
    Disulfide bondi1471 ↔ 1484PROSITE-ProRule annotation
    Glycosylationi1538 – 15381N-linked (GlcNAc...)Sequence Analysis
    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
    Glycosylationi1627 – 16271N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1632 ↔ 1645PROSITE-ProRule annotation
    Glycosylationi1658 – 16581N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1668 – 16681N-linked (GlcNAc...)Sequence Analysis
    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
    Glycosylationi1858 – 18581N-linked (GlcNAc...)Sequence Analysis
    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
    Glycosylationi2033 – 20331N-linked (GlcNAc...)Sequence Analysis
    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
    Glycosylationi2713 – 27131N-linked (GlcNAc...)Sequence Analysis

    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

    PaxDbiQ75N90.
    PRIDEiQ75N90.

    PTM databases

    PhosphoSiteiQ75N90.

    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

    BgeeiQ75N90.
    CleanExiHS_FBN3.
    GenevestigatoriQ75N90.

    Organism-specific databases

    HPAiHPA049482.

    Interactioni

    Protein-protein interaction databases

    BioGridi124100. 13 interactions.
    IntActiQ75N90. 14 interactions.
    MINTiMINT-4095014.
    STRINGi9606.ENSP00000270509.

    Structurei

    3D structure databases

    ProteinModelPortaliQ75N90.
    SMRiQ75N90. Positions 46-612, 682-910, 983-2636.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini147 – 17933EGF-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini185 – 23753TB 1Add
    BLAST
    Domaini247 – 28842EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini293 – 34654TB 2Add
    BLAST
    Domaini408 – 44841EGF-like 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini449 – 48840EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini489 – 53042EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini531 – 57141EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini572 – 61241EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini618 – 67053TB 3Add
    BLAST
    Domaini682 – 72342EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini724 – 76542EGF-like 9; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini766 – 80540EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini810 – 86152TB 4Add
    BLAST
    Domaini869 – 91042EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini915 – 96652TB 5Add
    BLAST
    Domaini986 – 102742EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1028 – 107043EGF-like 13; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1071 – 111242EGF-like 14; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1113 – 115442EGF-like 15; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1155 – 119541EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1196 – 123742EGF-like 17PROSITE-ProRule annotationAdd
    BLAST
    Domaini1238 – 127942EGF-like 18; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1280 – 132041EGF-like 19; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1321 – 136141EGF-like 20; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1362 – 140342EGF-like 21; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1404 – 144441EGF-like 22; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1445 – 148541EGF-like 23; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1490 – 154657TB 6Add
    BLAST
    Domaini1563 – 160442EGF-like 24; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1605 – 164642EGF-like 25; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1651 – 170353TB 7Add
    BLAST
    Domaini1721 – 176242EGF-like 26; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1763 – 180442EGF-like 27; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1805 – 184642EGF-like 28PROSITE-ProRule annotationAdd
    BLAST
    Domaini1847 – 188539EGF-like 29; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1886 – 192843EGF-like 30; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1929 – 196840EGF-like 31; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1969 – 201042EGF-like 32; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini2015 – 206854TB 8Add
    BLAST
    Domaini2084 – 212542EGF-like 33; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini2126 – 216540EGF-like 34; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini2166 – 220641EGF-like 35; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini2207 – 225145EGF-like 36; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini2252 – 229342EGF-like 37; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini2298 – 235154TB 9Add
    BLAST
    Domaini2363 – 240442EGF-like 38; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini2405 – 244541EGF-like 39; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini2446 – 248439EGF-like 40; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini2485 – 252743EGF-like 41; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini2528 – 256740EGF-like 42; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini2568 – 260942EGF-like 43; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini2610 – 264940EGF-like 44; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the fibrillin family.Curated
    Contains 44 EGF-like domains.PROSITE-ProRule annotation
    Contains 9 TB (TGF-beta binding) domains.Curated

    Keywords - Domaini

    EGF-like domain, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG12793.
    HOGENOMiHOG000231768.
    HOVERGENiHBG005643.
    InParanoidiQ75N90.
    OMAiSCARPFP.
    OrthoDBiEOG7RV9F6.
    PhylomeDBiQ75N90.
    TreeFamiTF316849.

    Family and domain databases

    Gene3Di3.90.290.10. 9 hits.
    InterProiIPR026823. cEGF.
    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.
    IPR011398. FBN/EtMIC4.
    IPR009030. Growth_fac_rcpt_N_dom.
    IPR017878. TB_dom.
    [Graphical view]
    PANTHERiPTHR24039. PTHR24039. 1 hit.
    PfamiPF12662. cEGF. 3 hits.
    PF00008. EGF. 1 hit.
    PF07645. EGF_CA. 38 hits.
    PF00683. TB. 9 hits.
    [Graphical view]
    PIRSFiPIRSF036312. Fibrillin. 1 hit.
    SMARTiSM00181. EGF. 4 hits.
    SM00179. EGF_CA. 41 hits.
    [Graphical view]
    SUPFAMiSSF57184. SSF57184. 12 hits.
    SSF57581. SSF57581. 9 hits.
    PROSITEiPS00010. 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.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q75N90-1 [UniParc]FASTAAdd to Basket

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    MTLEGLYLAR GPLARLLLAW SALLCMAGGQ GRWDGALEAA GPGRVRRRGS     50
    PGILQGPNVC GSRFHAYCCP GWRTFPGRSQ CVVPICRRAC GEGFCSQPNL 100
    CTCADGTLAP SCGVSRGSGC SVSCMNGGTC RGASCLCQKG YTGTVCGQPI 150
    CDRGCHNGGR CIGPNRCACV YGFMGPQCER DYRTGPCFGQ VGPEGCQHQL 200
    TGLVCTKALC CATVGRAWGL PCELCPAQPH PCRRGFIPNI HTGACQDVDE 250
    CQAVPGLCQG GSCVNMVGSF HCRCPVGHRL SDSSAACEDY RAGACFSVLF 300
    GGRCAGDLAG HYTRRQCCCD RGRCWAAGPV PELCPPRGSN EFQQLCAQRL 350
    PLLPGHPGLF PGLLGFGSNG MGPPLGPARL NPHGSDARGI PSLGPGNSNI 400
    GTATLNQTID ICRHFTNLCL NGRCLPTPSS YRCECNVGYT QDVRGECIDV 450
    DECTSSPCHH GDCVNIPGTY HCRCYPGFQA TPTRQACVDV DECIVSGGLC 500
    HLGRCVNTEG SFQCVCNAGF ELSPDGKNCV DHNECATSTM CVNGVCLNED 550
    GSFSCLCKPG FLLAPGGHYC MDIDECQTPG ICVNGHCTNT EGSFRCQCLG 600
    GLAVGTDGRV CVDTHVRSTC YGAIEKGSCA RPFPGTVTKS ECCCANPDHG 650
    FGEPCQLCPA KDSAEFQALC SSGLGITTDG RDINECALDP EVCANGVCEN 700
    LRGSYRCVCN LGYEAGASGK DCTDVDECAL NSLLCDNGWC QNSPGSYSCS 750
    CPPGFHFWQD TEICKDVDEC LSSPCVSGVC RNLAGSYTCK CGPGSRLDPS 800
    GTFCLDSTKG TCWLKIQESR CEVNLQGASL RSECCATLGA AWGSPCERCE 850
    IDPACARGFA RMTGVTCDDV NECESFPGVC PNGRCVNTAG SFRCECPEGL 900
    MLDASGRLCV DVRLEPCFLR WDEDECGVTL PGKYRMDVCC CSIGAVWGVE 950
    CEACPDPESL EFASLCPRGL GFASRDFLSG RPFYKDVNEC KVFPGLCTHG 1000
    TCRNTVGSFH CACAGGFALD AQERNCTDID ECRISPDLCG QGTCVNTPGS 1050
    FECECFPGYE SGFMLMKNCM DVDECARDPL LCRGGTCTNT DGSYKCQCPP 1100
    GHELTAKGTA CEDIDECSLS DGLCPHGQCV NVIGAFQCSC HAGFQSTPDR 1150
    QGCVDINECR VQNGGCDVHC INTEGSYRCS CGQGYSLMPD GRACADVDEC 1200
    EENPRVCDQG HCTNMPGGHR CLCYDGFMAT PDMRTCVDVD ECDLNPHICL 1250
    HGDCENTKGS FVCHCQLGYM VRKGATGCSD VDECEVGGHN CDSHASCLNI 1300
    PGSFSCRCLP GWVGDGFECH DLDECVSQEH RCSPRGDCLN VPGSYRCTCR 1350
    QGFAGDGFFC EDRDECAENV DLCDNGQCLN APGGYRCECE MGFDPTEDHR 1400
    ACQDVDECAQ GNLCAFGSCE NLPGMFRCIC NGGYELDRGG GNCTDINECA 1450
    DPVNCINGVC INTPGSYLCS CPQDFELNPS GVGCVDTRAG NCFLETHDRG 1500
    DSGISCSAEI GVGVTRASCC CSLGRAWGNP CELCPMANTT EYRTLCPGGE 1550
    GFQPNRITVI LEDIDECQEL PGLCQGGDCV NTFGSFQCEC PPGYHLSEHT 1600
    RICEDIDECS THSGICGPGT CYNTLGNYTC VCPAEYLQVN GGNNCMDMRK 1650
    SVCFRHYNGT CQNELAFNVT RKMCCCSYNI GQAWNRPCEA CPTPISPDYQ 1700
    ILCGNQAPGF LTDIHTGKPL DIDECGEIPA ICANGICINQ IGSFRCECPA 1750
    GFNYNSILLA CEDVDECGSR ESPCQQNADC INIPGSYRCK CTRGYKLSPG 1800
    GACVGRNECR EIPNVCSHGD CMDTEGSYMC LCHRGFQASA DQTLCMDIDE 1850
    CDRQPCGNGT CKNIIGSYNC LCFPGFVVTH NGDCVDFDEC TTLVGQVCRF 1900
    GHCLNTAGSF HCLCQDGFEL TADGKNCVDT NECLSLAGTC LPGTCQNLEG 1950
    SFRCICPPGF QVQSDHCIDI DECSEEPNLC LFGTCTNSPG SFQCLCPPGF 2000
    VLSDNGHRCF DTRQSFCFTR FEAGKCSVPK AFNTTKTRCC CSKRPGEGWG 2050
    DPCELCPQEG SAAFQELCPF GHGAVPGPDD SREDVNECAE NPGVCTNGVC 2100
    VNTDGSFRCE CPFGYSLDFT GINCVDTDEC SVGHPCGQGT CTNVIGGFEC 2150
    ACADGFEPGL MMTCEDIDEC SLNPLLCAFR CHNTEGSYLC TCPAGYTLRE 2200
    DGAMCRDVDE CADGQQDCHA RGMECKNLIG TFACVCPPGM RPLPGSGEGC 2250
    TDDNECHAQP DLCVNGRCVN TAGSFRCDCD EGFQPSPTLT ECHDIRQGPC 2300
    FAEVLQTMCR SLSSSSEAVT RAECCCGGGR GWGPRCELCP LPGTSAYRKL 2350
    CPHGSGYTAE GRDVDECRML AHLCAHGECI NSLGSFRCHC QAGYTPDATA 2400
    TTCLDMDECS QVPKPCTFLC KNTKGSFLCS CPRGYLLEED GRTCKDLDEC 2450
    TSRQHNCQFL CVNTVGAFTC RCPPGFTQHH QACFDNDECS AQPGPCGAHG 2500
    HCHNTPGSFR CECHQGFTLV SSGHGCEDVN ECDGPHRCQH GCQNQLGGYR 2550
    CSCPQGFTQH SQWAQCVDEN ECALSPPTCG SASCRNTLGG FRCVCPSGFD 2600
    FDQALGGCQE VDECAGRRGP CSYSCANTPG GFLCGCPQGY FRAGQGHCVS 2650
    GLGFSPGPQD TPDKEELLSS EACYECKING LSPRDRPRRS AHRDHQVNLA 2700
    TLDSEALLTL GLNLSHLGRA ERILELRPAL EGLEGRIRYV IVRGNEQGFF 2750
    RMHHLRGVSS LQLGRRRPGP GTYRLEVVSH MAGPWGVQPE GQPGPWGQAL 2800
    RLKVQLQLL 2809
    Length:2,809
    Mass (Da):300,356
    Last modified:May 18, 2010 - v3
    Checksum:iFE47EF22C1307C14
    GO

    Sequence cautioni

    The sequence BAB47408.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti119 – 1191G → A.
    Corresponds to variant rs3813773 [ dbSNP | Ensembl ].
    VAR_019493
    Natural varianti329 – 3291P → L.
    Corresponds to variant rs7246376 [ dbSNP | Ensembl ].
    VAR_055736
    Natural varianti371 – 3711M → I.
    Corresponds to variant rs35999680 [ dbSNP | Ensembl ].
    VAR_055737
    Natural varianti473 – 4731R → Q.1 Publication
    Corresponds to variant rs35277492 [ dbSNP | Ensembl ].
    VAR_019494
    Natural varianti542 – 5421V → I.
    Corresponds to variant rs36124795 [ dbSNP | Ensembl ].
    VAR_055738
    Natural varianti662 – 6621D → N.3 Publications
    Corresponds to variant rs4804271 [ dbSNP | Ensembl ].
    VAR_019495
    Natural varianti868 – 8681D → N.
    Corresponds to variant rs35025963 [ dbSNP | Ensembl ].
    VAR_055739
    Natural varianti935 – 9351R → L.1 Publication
    VAR_019496
    Natural varianti938 – 9381V → F.1 Publication
    VAR_019497
    Natural varianti1083 – 10831R → W.1 Publication
    Corresponds to variant rs35579498 [ dbSNP | Ensembl ].
    VAR_019498
    Natural varianti1209 – 12091Q → R.
    Corresponds to variant rs34684510 [ dbSNP | Ensembl ].
    VAR_055740
    Natural varianti1293 – 12931S → G.
    Corresponds to variant rs4804063 [ dbSNP | Ensembl ].
    VAR_055741
    Natural varianti1293 – 12931S → N.
    Corresponds to variant rs4804063 [ dbSNP | Ensembl ].
    VAR_019499
    Natural varianti1326 – 13261V → I.1 Publication
    Corresponds to variant rs12975322 [ dbSNP | Ensembl ].
    VAR_019500
    Natural varianti1431 – 14311N → I.
    Corresponds to variant rs17160194 [ dbSNP | Ensembl ].
    VAR_055742
    Natural varianti1614 – 16141G → S.2 Publications
    Corresponds to variant rs33967815 [ dbSNP | Ensembl ].
    VAR_019501
    Natural varianti1806 – 18061R → Q.1 Publication
    Corresponds to variant rs3829817 [ dbSNP | Ensembl ].
    VAR_019502
    Natural varianti1850 – 18501E → K.
    Corresponds to variant rs10404519 [ dbSNP | Ensembl ].
    VAR_055743
    Natural varianti1869 – 18691N → K.1 Publication
    Corresponds to variant rs12150963 [ dbSNP | Ensembl ].
    VAR_019503
    Natural varianti1904 – 19041L → F.
    Corresponds to variant rs12608849 [ dbSNP | Ensembl ].
    VAR_055744
    Natural varianti1904 – 19041L → P.1 Publication
    Corresponds to variant rs12608849 [ dbSNP | Ensembl ].
    VAR_019504
    Natural varianti1939 – 19391T → N.
    Corresponds to variant rs7245558 [ dbSNP | Ensembl ].
    VAR_055745
    Natural varianti1958 – 19581P → H.
    Corresponds to variant rs7245429 [ dbSNP | Ensembl ].
    VAR_019505
    Natural varianti1966 – 19661H → D.
    Corresponds to variant rs34167077 [ dbSNP | Ensembl ].
    VAR_055746
    Natural varianti2005 – 20051N → T.
    Corresponds to variant rs17202741 [ dbSNP | Ensembl ].
    VAR_055747
    Natural varianti2314 – 23141S → N.
    Corresponds to variant rs17160151 [ dbSNP | Ensembl ].
    VAR_055748
    Natural varianti2471 – 24711R → H.
    Corresponds to variant rs3848570 [ dbSNP | Ensembl ].
    VAR_055749
    Natural varianti2540 – 25401H → Q.
    Corresponds to variant rs35477781 [ dbSNP | Ensembl ].
    VAR_055750
    Natural varianti2594 – 25941V → I.
    Corresponds to variant rs35318692 [ dbSNP | Ensembl ].
    VAR_055751
    Natural varianti2610 – 26101E → D.3 Publications
    Corresponds to variant rs7257948 [ dbSNP | Ensembl ].
    VAR_019506

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_115823.3. NM_032447.3.
    UniGeneiHs.370362.

    Genome annotation databases

    EnsembliENST00000270509; ENSP00000270509; ENSG00000142449.
    ENST00000600128; ENSP00000470498; ENSG00000142449.
    ENST00000601739; ENSP00000472324; ENSG00000142449.
    GeneIDi84467.
    KEGGihsa:84467.
    UCSCiuc002mjf.3. human.

    Polymorphism databases

    DMDMi296439346.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_115823.3. NM_032447.3.
    UniGenei Hs.370362.

    3D structure databases

    ProteinModelPortali Q75N90.
    SMRi Q75N90. Positions 46-612, 682-910, 983-2636.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124100. 13 interactions.
    IntActi Q75N90. 14 interactions.
    MINTi MINT-4095014.
    STRINGi 9606.ENSP00000270509.

    PTM databases

    PhosphoSitei Q75N90.

    Polymorphism databases

    DMDMi 296439346.

    Proteomic databases

    PaxDbi Q75N90.
    PRIDEi Q75N90.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000270509 ; ENSP00000270509 ; ENSG00000142449 .
    ENST00000600128 ; ENSP00000470498 ; ENSG00000142449 .
    ENST00000601739 ; ENSP00000472324 ; ENSG00000142449 .
    GeneIDi 84467.
    KEGGi hsa:84467.
    UCSCi uc002mjf.3. human.

    Organism-specific databases

    CTDi 84467.
    GeneCardsi GC19M008130.
    H-InvDB HIX0014707.
    HGNCi HGNC:18794. FBN3.
    HPAi HPA049482.
    MIMi 608529. gene.
    neXtProti NX_Q75N90.
    PharmGKBi PA38681.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    HOGENOMi HOG000231768.
    HOVERGENi HBG005643.
    InParanoidi Q75N90.
    OMAi SCARPFP.
    OrthoDBi EOG7RV9F6.
    PhylomeDBi Q75N90.
    TreeFami TF316849.

    Enzyme and pathway databases

    Reactomei REACT_118572. Degradation of the extracellular matrix.
    REACT_150331. Molecules associated with elastic fibres.
    REACT_150366. Elastic fibre formation.

    Miscellaneous databases

    GenomeRNAii 84467.
    NextBioi 74278.
    PROi Q75N90.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q75N90.
    CleanExi HS_FBN3.
    Genevestigatori Q75N90.

    Family and domain databases

    Gene3Di 3.90.290.10. 9 hits.
    InterProi IPR026823. cEGF.
    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.
    IPR011398. FBN/EtMIC4.
    IPR009030. Growth_fac_rcpt_N_dom.
    IPR017878. TB_dom.
    [Graphical view ]
    PANTHERi PTHR24039. PTHR24039. 1 hit.
    Pfami PF12662. cEGF. 3 hits.
    PF00008. EGF. 1 hit.
    PF07645. EGF_CA. 38 hits.
    PF00683. TB. 9 hits.
    [Graphical view ]
    PIRSFi PIRSF036312. Fibrillin. 1 hit.
    SMARTi SM00181. EGF. 4 hits.
    SM00179. EGF_CA. 41 hits.
    [Graphical view ]
    SUPFAMi SSF57184. SSF57184. 12 hits.
    SSF57581. SSF57581. 9 hits.
    PROSITEi 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.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues."
      Corson G.M., Charbonneau N.L., Keene D.R., Sakai L.Y.
      Genomics 83:461-472(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS ASN-662; SER-1614 AND ASP-2610.
    2. "Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients."
      Uyeda T., Takahashi T., Eto S., Sato T., Xu G., Kanezaki R., Toki T., Yonesaka S., Ito E.
      J. Hum. Genet. 49:404-407(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLN-473; ASN-662; LEU-935; PHE-938; TRP-1083; SER-1614; LYS-1869; PRO-1904 AND ASP-2610.
    3. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
      DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ASN-662; ILE-1326; GLN-1806 AND ASP-2610.
      Tissue: Brain.
    4. Nakajima D., Nakayama M., Kikuno R., Nagase T., Ohara O.
      Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    5. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiFBN3_HUMAN
    AccessioniPrimary (citable) accession number: Q75N90
    Secondary accession number(s): Q75N91
    , Q75N92, Q75N93, Q86SJ5, Q96JP8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 108 of the entry and version 3 of the sequence. [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. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3