Q75N90 (FBN3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Fibrillin-3

Gene names

Name:	FBN3
Synonyms:	KIAA1776

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2809 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	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. Ref.1
Subcellular location	Secreted › extracellular space › extracellular matrix Ref.1.
Tissue specificity	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. Ref.1
Post-translational modification	Probably forms intermolecular disulfide bonds either with other FBN3 molecules or with other components of the microfibrils By similarity.
Sequence similarities	Belongs to the fibrillin family. Contains 44 EGF-like domains. Contains 9 TB (TGF-beta binding) domains.
Sequence caution	The sequence BAB47408.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Polymorphism
Domain	EGF-like domain Repeat Signal
Ligand	Calcium
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro extracellular matrix structural constituent Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 31	31	Potential
	Chain	32 – 2809	2778	Fibrillin-3		PRO_0000007586
Regions
	Domain	147 – 179	33	EGF-like 1
	Domain	185 – 237	53	TB 1
	Domain	247 – 288	42	EGF-like 2; calcium-binding
	Domain	293 – 346	54	TB 2
	Domain	408 – 448	41	EGF-like 3
	Domain	449 – 488	40	EGF-like 4; calcium-binding
	Domain	489 – 530	42	EGF-like 5; calcium-binding
	Domain	531 – 571	41	EGF-like 6; calcium-binding
	Domain	572 – 612	41	EGF-like 7; calcium-binding
	Domain	618 – 670	53	TB 3
	Domain	682 – 723	42	EGF-like 8; calcium-binding
	Domain	724 – 765	42	EGF-like 9; calcium-binding
	Domain	766 – 805	40	EGF-like 10; calcium-binding
	Domain	810 – 861	52	TB 4
	Domain	869 – 910	42	EGF-like 11; calcium-binding
	Domain	915 – 966	52	TB 5
	Domain	986 – 1027	42	EGF-like 12; calcium-binding
	Domain	1028 – 1070	43	EGF-like 13; calcium-binding
	Domain	1071 – 1112	42	EGF-like 14; calcium-binding
	Domain	1113 – 1154	42	EGF-like 15; calcium-binding
	Domain	1155 – 1195	41	EGF-like 16; calcium-binding
	Domain	1196 – 1237	42	EGF-like 17
	Domain	1238 – 1279	42	EGF-like 18; calcium-binding
	Domain	1280 – 1320	41	EGF-like 19; calcium-binding
	Domain	1321 – 1361	41	EGF-like 20; calcium-binding
	Domain	1362 – 1403	42	EGF-like 21; calcium-binding
	Domain	1404 – 1444	41	EGF-like 22; calcium-binding
	Domain	1445 – 1485	41	EGF-like 23; calcium-binding
	Domain	1490 – 1546	57	TB 6
	Domain	1563 – 1604	42	EGF-like 24; calcium-binding
	Domain	1605 – 1646	42	EGF-like 25; calcium-binding
	Domain	1651 – 1703	53	TB 7
	Domain	1721 – 1762	42	EGF-like 26; calcium-binding
	Domain	1763 – 1804	42	EGF-like 27; calcium-binding
	Domain	1805 – 1846	42	EGF-like 28
	Domain	1847 – 1885	39	EGF-like 29; calcium-binding
	Domain	1886 – 1928	43	EGF-like 30; calcium-binding
	Domain	1929 – 1968	40	EGF-like 31; calcium-binding
	Domain	1969 – 2010	42	EGF-like 32; calcium-binding
	Domain	2015 – 2068	54	TB 8
	Domain	2084 – 2125	42	EGF-like 33; calcium-binding
	Domain	2126 – 2165	40	EGF-like 34; calcium-binding
	Domain	2166 – 2206	41	EGF-like 35; calcium-binding
	Domain	2207 – 2251	45	EGF-like 36; calcium-binding
	Domain	2252 – 2293	42	EGF-like 37; calcium-binding
	Domain	2298 – 2351	54	TB 9
	Domain	2363 – 2404	42	EGF-like 38; calcium-binding
	Domain	2405 – 2445	41	EGF-like 39; calcium-binding
	Domain	2446 – 2484	39	EGF-like 40; calcium-binding
	Domain	2485 – 2527	43	EGF-like 41; calcium-binding
	Domain	2528 – 2567	40	EGF-like 42; calcium-binding
	Domain	2568 – 2609	42	EGF-like 43; calcium-binding
	Domain	2610 – 2649	40	EGF-like 44; calcium-binding
Amino acid modifications
	Glycosylation	406	1	N-linked (GlcNAc...) Potential
	Glycosylation	1025	1	N-linked (GlcNAc...) Potential
	Glycosylation	1442	1	N-linked (GlcNAc...) Potential
	Glycosylation	1538	1	N-linked (GlcNAc...) Potential
	Glycosylation	1627	1	N-linked (GlcNAc...) Potential
	Glycosylation	1658	1	N-linked (GlcNAc...) Potential
	Glycosylation	1668	1	N-linked (GlcNAc...) Potential
	Glycosylation	1858	1	N-linked (GlcNAc...) Potential
	Glycosylation	2033	1	N-linked (GlcNAc...) Potential
	Glycosylation	2713	1	N-linked (GlcNAc...) Potential
	Disulfide bond	151 ↔ 161		By similarity
	Disulfide bond	155 ↔ 167		By similarity
	Disulfide bond	169 ↔ 178		By similarity
	Disulfide bond	251 ↔ 263		By similarity
	Disulfide bond	258 ↔ 272		By similarity
	Disulfide bond	274 ↔ 287		By similarity
	Disulfide bond	412 ↔ 424		By similarity
	Disulfide bond	419 ↔ 433		By similarity
	Disulfide bond	435 ↔ 447		By similarity
	Disulfide bond	453 ↔ 463		By similarity
	Disulfide bond	458 ↔ 472		By similarity
	Disulfide bond	474 ↔ 487		By similarity
	Disulfide bond	493 ↔ 505		By similarity
	Disulfide bond	500 ↔ 514		By similarity
	Disulfide bond	516 ↔ 529		By similarity
	Disulfide bond	535 ↔ 546		By similarity
	Disulfide bond	541 ↔ 555		By similarity
	Disulfide bond	557 ↔ 570		By similarity
	Disulfide bond	576 ↔ 587		By similarity
	Disulfide bond	582 ↔ 596		By similarity
	Disulfide bond	598 ↔ 611		By similarity
	Disulfide bond	686 ↔ 698		By similarity
	Disulfide bond	693 ↔ 707		By similarity
	Disulfide bond	709 ↔ 722		By similarity
	Disulfide bond	728 ↔ 740		By similarity
	Disulfide bond	735 ↔ 749		By similarity
	Disulfide bond	751 ↔ 764		By similarity
	Disulfide bond	770 ↔ 780		By similarity
	Disulfide bond	775 ↔ 789		By similarity
	Disulfide bond	791 ↔ 804		By similarity
	Disulfide bond	873 ↔ 885		By similarity
	Disulfide bond	880 ↔ 894		By similarity
	Disulfide bond	896 ↔ 909		By similarity
	Disulfide bond	990 ↔ 1002		By similarity
	Disulfide bond	997 ↔ 1011		By similarity
	Disulfide bond	1013 ↔ 1026		By similarity
	Disulfide bond	1032 ↔ 1044		By similarity
	Disulfide bond	1039 ↔ 1053		By similarity
	Disulfide bond	1055 ↔ 1069		By similarity
	Disulfide bond	1075 ↔ 1087		By similarity
	Disulfide bond	1082 ↔ 1096		By similarity
	Disulfide bond	1098 ↔ 1111		By similarity
	Disulfide bond	1117 ↔ 1129		By similarity
	Disulfide bond	1124 ↔ 1138		By similarity
	Disulfide bond	1140 ↔ 1153		By similarity
	Disulfide bond	1159 ↔ 1170		By similarity
	Disulfide bond	1166 ↔ 1179		By similarity
	Disulfide bond	1181 ↔ 1194		By similarity
	Disulfide bond	1200 ↔ 1212		By similarity
	Disulfide bond	1207 ↔ 1221		By similarity
	Disulfide bond	1223 ↔ 1236		By similarity
	Disulfide bond	1242 ↔ 1254		By similarity
	Disulfide bond	1249 ↔ 1263		By similarity
	Disulfide bond	1265 ↔ 1278		By similarity
	Disulfide bond	1284 ↔ 1297		By similarity
	Disulfide bond	1291 ↔ 1306		By similarity
	Disulfide bond	1308 ↔ 1319		By similarity
	Disulfide bond	1325 ↔ 1338		By similarity
	Disulfide bond	1332 ↔ 1347		By similarity
	Disulfide bond	1349 ↔ 1360		By similarity
	Disulfide bond	1366 ↔ 1378		By similarity
	Disulfide bond	1373 ↔ 1387		By similarity
	Disulfide bond	1389 ↔ 1402		By similarity
	Disulfide bond	1408 ↔ 1419		By similarity
	Disulfide bond	1414 ↔ 1428		By similarity
	Disulfide bond	1430 ↔ 1443		By similarity
	Disulfide bond	1449 ↔ 1460		By similarity
	Disulfide bond	1455 ↔ 1469		By similarity
	Disulfide bond	1471 ↔ 1484		By similarity
	Disulfide bond	1567 ↔ 1579		By similarity
	Disulfide bond	1574 ↔ 1588		By similarity
	Disulfide bond	1590 ↔ 1603		By similarity
	Disulfide bond	1609 ↔ 1621		By similarity
	Disulfide bond	1616 ↔ 1630		By similarity
	Disulfide bond	1632 ↔ 1645		By similarity
	Disulfide bond	1725 ↔ 1737		By similarity
	Disulfide bond	1732 ↔ 1746		By similarity
	Disulfide bond	1748 ↔ 1761		By similarity
	Disulfide bond	1767 ↔ 1780		By similarity
	Disulfide bond	1774 ↔ 1789		By similarity
	Disulfide bond	1791 ↔ 1803		By similarity
	Disulfide bond	1809 ↔ 1821		By similarity
	Disulfide bond	1816 ↔ 1830		By similarity
	Disulfide bond	1832 ↔ 1845		By similarity
	Disulfide bond	1851 ↔ 1861		By similarity
	Disulfide bond	1856 ↔ 1870		By similarity
	Disulfide bond	1872 ↔ 1884		By similarity
	Disulfide bond	1890 ↔ 1903		By similarity
	Disulfide bond	1898 ↔ 1912		By similarity
	Disulfide bond	1914 ↔ 1927		By similarity
	Disulfide bond	1933 ↔ 1945		By similarity
	Disulfide bond	1940 ↔ 1954		By similarity
	Disulfide bond	1956 ↔ 1967		By similarity
	Disulfide bond	1973 ↔ 1985		By similarity
	Disulfide bond	1980 ↔ 1994		By similarity
	Disulfide bond	1996 ↔ 2009		By similarity
	Disulfide bond	2088 ↔ 2100		By similarity
	Disulfide bond	2095 ↔ 2109		By similarity
	Disulfide bond	2111 ↔ 2124		By similarity
	Disulfide bond	2130 ↔ 2141		By similarity
	Disulfide bond	2136 ↔ 2150		By similarity
	Disulfide bond	2152 ↔ 2164		By similarity
	Disulfide bond	2170 ↔ 2181		By similarity
	Disulfide bond	2177 ↔ 2190		By similarity
	Disulfide bond	2192 ↔ 2205		By similarity
	Disulfide bond	2211 ↔ 2225		By similarity
	Disulfide bond	2218 ↔ 2234		By similarity
	Disulfide bond	2236 ↔ 2250		By similarity
	Disulfide bond	2256 ↔ 2268		By similarity
	Disulfide bond	2263 ↔ 2277		By similarity
	Disulfide bond	2279 ↔ 2292		By similarity
	Disulfide bond	2367 ↔ 2379		By similarity
	Disulfide bond	2374 ↔ 2388		By similarity
	Disulfide bond	2390 ↔ 2403		By similarity
	Disulfide bond	2409 ↔ 2420		By similarity
	Disulfide bond	2416 ↔ 2429		By similarity
	Disulfide bond	2431 ↔ 2444		By similarity
	Disulfide bond	2450 ↔ 2461		By similarity
	Disulfide bond	2457 ↔ 2470		By similarity
	Disulfide bond	2472 ↔ 2483		By similarity
	Disulfide bond	2489 ↔ 2502		By similarity
	Disulfide bond	2496 ↔ 2511		By similarity
	Disulfide bond	2513 ↔ 2526		By similarity
	Disulfide bond	2532 ↔ 2542		By similarity
	Disulfide bond	2538 ↔ 2551		By similarity
	Disulfide bond	2553 ↔ 2566		By similarity
	Disulfide bond	2572 ↔ 2584		By similarity
	Disulfide bond	2579 ↔ 2593		By similarity
	Disulfide bond	2595 ↔ 2608		By similarity
	Disulfide bond	2614 ↔ 2625		By similarity
	Disulfide bond	2621 ↔ 2634		By similarity
	Disulfide bond	2636 ↔ 2648		By similarity
Natural variations
	Natural variant	119	1	G → A. Corresponds to variant rs3813773 [ dbSNP | Ensembl ].		VAR_019493
	Natural variant	329	1	P → L. Corresponds to variant rs7246376 [ dbSNP | Ensembl ].		VAR_055736
	Natural variant	371	1	M → I. Corresponds to variant rs35999680 [ dbSNP | Ensembl ].		VAR_055737
	Natural variant	473	1	R → Q. Ref.2 Corresponds to variant rs35277492 [ dbSNP | Ensembl ].		VAR_019494
	Natural variant	542	1	V → I. Corresponds to variant rs36124795 [ dbSNP | Ensembl ].		VAR_055738
	Natural variant	662	1	D → N. Ref.1 Ref.2 Ref.3 Corresponds to variant rs4804271 [ dbSNP | Ensembl ].		VAR_019495
	Natural variant	868	1	D → N. Corresponds to variant rs35025963 [ dbSNP | Ensembl ].		VAR_055739
	Natural variant	935	1	R → L. Ref.2		VAR_019496
	Natural variant	938	1	V → F. Ref.2		VAR_019497
	Natural variant	1083	1	R → W. Ref.2 Corresponds to variant rs35579498 [ dbSNP | Ensembl ].		VAR_019498
	Natural variant	1209	1	Q → R. Corresponds to variant rs34684510 [ dbSNP | Ensembl ].		VAR_055740
	Natural variant	1293	1	S → G. Corresponds to variant rs4804063 [ dbSNP | Ensembl ].		VAR_055741
	Natural variant	1293	1	S → N. Corresponds to variant rs4804063 [ dbSNP | Ensembl ].		VAR_019499
	Natural variant	1326	1	V → I. Ref.3 Corresponds to variant rs12975322 [ dbSNP | Ensembl ].		VAR_019500
	Natural variant	1431	1	N → I. Corresponds to variant rs17160194 [ dbSNP | Ensembl ].		VAR_055742
	Natural variant	1614	1	G → S. Ref.1 Ref.2 Corresponds to variant rs33967815 [ dbSNP | Ensembl ].		VAR_019501
	Natural variant	1806	1	R → Q. Ref.3 Corresponds to variant rs3829817 [ dbSNP | Ensembl ].		VAR_019502
	Natural variant	1850	1	E → K. Corresponds to variant rs10404519 [ dbSNP | Ensembl ].		VAR_055743
	Natural variant	1869	1	N → K. Ref.2 Corresponds to variant rs12150963 [ dbSNP | Ensembl ].		VAR_019503
	Natural variant	1904	1	L → F. Corresponds to variant rs12608849 [ dbSNP | Ensembl ].		VAR_055744
	Natural variant	1904	1	L → P. Ref.2 Corresponds to variant rs12608849 [ dbSNP | Ensembl ].		VAR_019504
	Natural variant	1939	1	T → N. Corresponds to variant rs7245558 [ dbSNP | Ensembl ].		VAR_055745
	Natural variant	1958	1	P → H. Corresponds to variant rs7245429 [ dbSNP | Ensembl ].		VAR_019505
	Natural variant	1966	1	H → D. Corresponds to variant rs34167077 [ dbSNP | Ensembl ].		VAR_055746
	Natural variant	2005	1	N → T. Corresponds to variant rs17202741 [ dbSNP | Ensembl ].		VAR_055747
	Natural variant	2314	1	S → N. Corresponds to variant rs17160151 [ dbSNP | Ensembl ].		VAR_055748
	Natural variant	2471	1	R → H. Corresponds to variant rs3848570 [ dbSNP | Ensembl ].		VAR_055749
	Natural variant	2540	1	H → Q. Corresponds to variant rs35477781 [ dbSNP | Ensembl ].		VAR_055750
	Natural variant	2594	1	V → I. Corresponds to variant rs35318692 [ dbSNP | Ensembl ].		VAR_055751
	Natural variant	2610	1	E → D. Ref.1 Ref.2 Ref.3 Corresponds to variant rs7257948 [ dbSNP | Ensembl ].		VAR_019506

Sequences

	Sequence		Length	Mass (Da)
	Q75N90 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: FE47EF22C1307C14	FASTA	2,809	300,356
	10 20 30 40 50 60 MTLEGLYLAR GPLARLLLAW SALLCMAGGQ GRWDGALEAA GPGRVRRRGS PGILQGPNVC 70 80 90 100 110 120 GSRFHAYCCP GWRTFPGRSQ CVVPICRRAC GEGFCSQPNL CTCADGTLAP SCGVSRGSGC 130 140 150 160 170 180 SVSCMNGGTC RGASCLCQKG YTGTVCGQPI CDRGCHNGGR CIGPNRCACV YGFMGPQCER 190 200 210 220 230 240 DYRTGPCFGQ VGPEGCQHQL TGLVCTKALC CATVGRAWGL PCELCPAQPH PCRRGFIPNI 250 260 270 280 290 300 HTGACQDVDE CQAVPGLCQG GSCVNMVGSF HCRCPVGHRL SDSSAACEDY RAGACFSVLF 310 320 330 340 350 360 GGRCAGDLAG HYTRRQCCCD RGRCWAAGPV PELCPPRGSN EFQQLCAQRL PLLPGHPGLF 370 380 390 400 410 420 PGLLGFGSNG MGPPLGPARL NPHGSDARGI PSLGPGNSNI GTATLNQTID ICRHFTNLCL 430 440 450 460 470 480 NGRCLPTPSS YRCECNVGYT QDVRGECIDV DECTSSPCHH GDCVNIPGTY HCRCYPGFQA 490 500 510 520 530 540 TPTRQACVDV DECIVSGGLC HLGRCVNTEG SFQCVCNAGF ELSPDGKNCV DHNECATSTM 550 560 570 580 590 600 CVNGVCLNED GSFSCLCKPG FLLAPGGHYC MDIDECQTPG ICVNGHCTNT EGSFRCQCLG 610 620 630 640 650 660 GLAVGTDGRV CVDTHVRSTC YGAIEKGSCA RPFPGTVTKS ECCCANPDHG FGEPCQLCPA 670 680 690 700 710 720 KDSAEFQALC SSGLGITTDG RDINECALDP EVCANGVCEN LRGSYRCVCN LGYEAGASGK 730 740 750 760 770 780 DCTDVDECAL NSLLCDNGWC QNSPGSYSCS CPPGFHFWQD TEICKDVDEC LSSPCVSGVC 790 800 810 820 830 840 RNLAGSYTCK CGPGSRLDPS GTFCLDSTKG TCWLKIQESR CEVNLQGASL RSECCATLGA 850 860 870 880 890 900 AWGSPCERCE IDPACARGFA RMTGVTCDDV NECESFPGVC PNGRCVNTAG SFRCECPEGL 910 920 930 940 950 960 MLDASGRLCV DVRLEPCFLR WDEDECGVTL PGKYRMDVCC CSIGAVWGVE CEACPDPESL 970 980 990 1000 1010 1020 EFASLCPRGL GFASRDFLSG RPFYKDVNEC KVFPGLCTHG TCRNTVGSFH CACAGGFALD 1030 1040 1050 1060 1070 1080 AQERNCTDID ECRISPDLCG QGTCVNTPGS FECECFPGYE SGFMLMKNCM DVDECARDPL 1090 1100 1110 1120 1130 1140 LCRGGTCTNT DGSYKCQCPP GHELTAKGTA CEDIDECSLS DGLCPHGQCV NVIGAFQCSC 1150 1160 1170 1180 1190 1200 HAGFQSTPDR QGCVDINECR VQNGGCDVHC INTEGSYRCS CGQGYSLMPD GRACADVDEC 1210 1220 1230 1240 1250 1260 EENPRVCDQG HCTNMPGGHR CLCYDGFMAT PDMRTCVDVD ECDLNPHICL HGDCENTKGS 1270 1280 1290 1300 1310 1320 FVCHCQLGYM VRKGATGCSD VDECEVGGHN CDSHASCLNI PGSFSCRCLP GWVGDGFECH 1330 1340 1350 1360 1370 1380 DLDECVSQEH RCSPRGDCLN VPGSYRCTCR QGFAGDGFFC EDRDECAENV DLCDNGQCLN 1390 1400 1410 1420 1430 1440 APGGYRCECE MGFDPTEDHR ACQDVDECAQ GNLCAFGSCE NLPGMFRCIC NGGYELDRGG 1450 1460 1470 1480 1490 1500 GNCTDINECA DPVNCINGVC INTPGSYLCS CPQDFELNPS GVGCVDTRAG NCFLETHDRG 1510 1520 1530 1540 1550 1560 DSGISCSAEI GVGVTRASCC CSLGRAWGNP CELCPMANTT EYRTLCPGGE GFQPNRITVI 1570 1580 1590 1600 1610 1620 LEDIDECQEL PGLCQGGDCV NTFGSFQCEC PPGYHLSEHT RICEDIDECS THSGICGPGT 1630 1640 1650 1660 1670 1680 CYNTLGNYTC VCPAEYLQVN GGNNCMDMRK SVCFRHYNGT CQNELAFNVT RKMCCCSYNI 1690 1700 1710 1720 1730 1740 GQAWNRPCEA CPTPISPDYQ ILCGNQAPGF LTDIHTGKPL DIDECGEIPA ICANGICINQ 1750 1760 1770 1780 1790 1800 IGSFRCECPA GFNYNSILLA CEDVDECGSR ESPCQQNADC INIPGSYRCK CTRGYKLSPG 1810 1820 1830 1840 1850 1860 GACVGRNECR EIPNVCSHGD CMDTEGSYMC LCHRGFQASA DQTLCMDIDE CDRQPCGNGT 1870 1880 1890 1900 1910 1920 CKNIIGSYNC LCFPGFVVTH NGDCVDFDEC TTLVGQVCRF GHCLNTAGSF HCLCQDGFEL 1930 1940 1950 1960 1970 1980 TADGKNCVDT NECLSLAGTC LPGTCQNLEG SFRCICPPGF QVQSDHCIDI DECSEEPNLC 1990 2000 2010 2020 2030 2040 LFGTCTNSPG SFQCLCPPGF VLSDNGHRCF DTRQSFCFTR FEAGKCSVPK AFNTTKTRCC 2050 2060 2070 2080 2090 2100 CSKRPGEGWG DPCELCPQEG SAAFQELCPF GHGAVPGPDD SREDVNECAE NPGVCTNGVC 2110 2120 2130 2140 2150 2160 VNTDGSFRCE CPFGYSLDFT GINCVDTDEC SVGHPCGQGT CTNVIGGFEC ACADGFEPGL 2170 2180 2190 2200 2210 2220 MMTCEDIDEC SLNPLLCAFR CHNTEGSYLC TCPAGYTLRE DGAMCRDVDE CADGQQDCHA 2230 2240 2250 2260 2270 2280 RGMECKNLIG TFACVCPPGM RPLPGSGEGC TDDNECHAQP DLCVNGRCVN TAGSFRCDCD 2290 2300 2310 2320 2330 2340 EGFQPSPTLT ECHDIRQGPC FAEVLQTMCR SLSSSSEAVT RAECCCGGGR GWGPRCELCP 2350 2360 2370 2380 2390 2400 LPGTSAYRKL CPHGSGYTAE GRDVDECRML AHLCAHGECI NSLGSFRCHC QAGYTPDATA 2410 2420 2430 2440 2450 2460 TTCLDMDECS QVPKPCTFLC KNTKGSFLCS CPRGYLLEED GRTCKDLDEC TSRQHNCQFL 2470 2480 2490 2500 2510 2520 CVNTVGAFTC RCPPGFTQHH QACFDNDECS AQPGPCGAHG HCHNTPGSFR CECHQGFTLV 2530 2540 2550 2560 2570 2580 SSGHGCEDVN ECDGPHRCQH GCQNQLGGYR CSCPQGFTQH SQWAQCVDEN ECALSPPTCG 2590 2600 2610 2620 2630 2640 SASCRNTLGG FRCVCPSGFD FDQALGGCQE VDECAGRRGP CSYSCANTPG GFLCGCPQGY 2650 2660 2670 2680 2690 2700 FRAGQGHCVS GLGFSPGPQD TPDKEELLSS EACYECKING LSPRDRPRRS AHRDHQVNLA 2710 2720 2730 2740 2750 2760 TLDSEALLTL GLNLSHLGRA ERILELRPAL EGLEGRIRYV IVRGNEQGFF RMHHLRGVSS 2770 2780 2790 2800 LQLGRRRPGP GTYRLEVVSH MAGPWGVQPE GQPGPWGQAL RLKVQLQLL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00438355.
RefSeq	NP_115823.3. NM_032447.3.
UniGene	Hs.370362.
3D structure databases
ProteinModelPortal	Q75N90.
SMR	Q75N90. Positions 118-179, 181-612, 682-910, 983-2636.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-4095014.
STRING	9606.ENSP00000270509.
PTM databases
PhosphoSite	Q75N90.
Proteomic databases
PaxDb	Q75N90.
PRIDE	Q75N90.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000270509; ENSP00000270509; ENSG00000142449. ENST00000600128; ENSP00000470498; ENSG00000142449. ENST00000601739; ENSP00000472324; ENSG00000142449.
GeneID	84467.
KEGG	hsa:84467.
UCSC	uc002mjf.3. human.
Organism-specific databases
CTD	84467.
GeneCards	GC19M008130.
H-InvDB	HIX0014707.
HGNC	HGNC:18794. FBN3.
HPA	HPA049482.
MIM	608529. gene.
neXtProt	NX_Q75N90.
PharmGKB	PA38681.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG12793.
HOGENOM	HOG000231768.
HOVERGEN	HBG005643.
InParanoid	Q75N90.
OMA	SVSCMNG.
OrthoDB	EOG45TCM7.
PhylomeDB	Q75N90.
Enzyme and pathway databases
Reactome	REACT_118779. Extracellular matrix organization.
Gene expression databases
Bgee	Q75N90.
CleanEx	HS_FBN3.
Genevestigator	Q75N90.
GermOnline	ENSG00000142449. Homo sapiens.
Family and domain databases
Gene3D	3.90.290.10. 9 hits.
InterPro	IPR026823. cEGF. IPR000742. EG-like_dom. IPR001881. EGF-like_Ca-bd. IPR013032. EGF-like_CS. IPR000152. EGF-type_Asp/Asn_hydroxyl_site. IPR018097. EGF_Ca-bd_CS. IPR011398. FBN. IPR017878. TB_dom. [Graphical view]
PANTHER	PTHR24039:SF0. PTHR24039:SF0. 1 hit.
Pfam	PF12662. cEGF. 3 hits. PF00008. EGF. 1 hit. PF07645. EGF_CA. 38 hits. PF00683. TB. 9 hits. [Graphical view]
PIRSF	PIRSF036312. Fibrillin. 1 hit.
SMART	SM00181. EGF. 4 hits. SM00179. EGF_CA. 41 hits. [Graphical view]
SUPFAM	SSF57581. Fibril-assoc. 9 hits.
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. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	84467.
NextBio	74278.
SOURCE	Search...

Entry information

Entry name

FBN3_HUMAN

Accession

Primary (citable) accession number: Q75N90
Secondary accession number(s): Q75N91 , Q75N92, Q75N93, Q86SJ5, Q96JP8

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2004
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 96 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.