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Q75N90

- FBN3_HUMAN

UniProt

Q75N90 - FBN3_HUMAN

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Protein
Fibrillin-3
Gene
FBN3, KIAA1776
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

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
Complete GO annotation...

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
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38681.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3131 Reviewed prediction
Add
BLAST
Chaini32 – 28092778Fibrillin-3
PRO_0000007586Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi151 ↔ 161 By similarity
Disulfide bondi155 ↔ 167 By similarity
Disulfide bondi169 ↔ 178 By similarity
Disulfide bondi251 ↔ 263 By similarity
Disulfide bondi258 ↔ 272 By similarity
Disulfide bondi274 ↔ 287 By similarity
Glycosylationi406 – 4061N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi412 ↔ 424 By similarity
Disulfide bondi419 ↔ 433 By similarity
Disulfide bondi435 ↔ 447 By similarity
Disulfide bondi453 ↔ 463 By similarity
Disulfide bondi458 ↔ 472 By similarity
Disulfide bondi474 ↔ 487 By similarity
Disulfide bondi493 ↔ 505 By similarity
Disulfide bondi500 ↔ 514 By similarity
Disulfide bondi516 ↔ 529 By similarity
Disulfide bondi535 ↔ 546 By similarity
Disulfide bondi541 ↔ 555 By similarity
Disulfide bondi557 ↔ 570 By similarity
Disulfide bondi576 ↔ 587 By similarity
Disulfide bondi582 ↔ 596 By similarity
Disulfide bondi598 ↔ 611 By similarity
Disulfide bondi686 ↔ 698 By similarity
Disulfide bondi693 ↔ 707 By similarity
Disulfide bondi709 ↔ 722 By similarity
Disulfide bondi728 ↔ 740 By similarity
Disulfide bondi735 ↔ 749 By similarity
Disulfide bondi751 ↔ 764 By similarity
Disulfide bondi770 ↔ 780 By similarity
Disulfide bondi775 ↔ 789 By similarity
Disulfide bondi791 ↔ 804 By similarity
Disulfide bondi873 ↔ 885 By similarity
Disulfide bondi880 ↔ 894 By similarity
Disulfide bondi896 ↔ 909 By similarity
Disulfide bondi990 ↔ 1002 By similarity
Disulfide bondi997 ↔ 1011 By similarity
Disulfide bondi1013 ↔ 1026 By similarity
Glycosylationi1025 – 10251N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1032 ↔ 1044 By similarity
Disulfide bondi1039 ↔ 1053 By similarity
Disulfide bondi1055 ↔ 1069 By similarity
Disulfide bondi1075 ↔ 1087 By similarity
Disulfide bondi1082 ↔ 1096 By similarity
Disulfide bondi1098 ↔ 1111 By similarity
Disulfide bondi1117 ↔ 1129 By similarity
Disulfide bondi1124 ↔ 1138 By similarity
Disulfide bondi1140 ↔ 1153 By similarity
Disulfide bondi1159 ↔ 1170 By similarity
Disulfide bondi1166 ↔ 1179 By similarity
Disulfide bondi1181 ↔ 1194 By similarity
Disulfide bondi1200 ↔ 1212 By similarity
Disulfide bondi1207 ↔ 1221 By similarity
Disulfide bondi1223 ↔ 1236 By similarity
Disulfide bondi1242 ↔ 1254 By similarity
Disulfide bondi1249 ↔ 1263 By similarity
Disulfide bondi1265 ↔ 1278 By similarity
Disulfide bondi1284 ↔ 1297 By similarity
Disulfide bondi1291 ↔ 1306 By similarity
Disulfide bondi1308 ↔ 1319 By similarity
Disulfide bondi1325 ↔ 1338 By similarity
Disulfide bondi1332 ↔ 1347 By similarity
Disulfide bondi1349 ↔ 1360 By similarity
Disulfide bondi1366 ↔ 1378 By similarity
Disulfide bondi1373 ↔ 1387 By similarity
Disulfide bondi1389 ↔ 1402 By similarity
Disulfide bondi1408 ↔ 1419 By similarity
Disulfide bondi1414 ↔ 1428 By similarity
Disulfide bondi1430 ↔ 1443 By similarity
Glycosylationi1442 – 14421N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1449 ↔ 1460 By similarity
Disulfide bondi1455 ↔ 1469 By similarity
Disulfide bondi1471 ↔ 1484 By similarity
Glycosylationi1538 – 15381N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1567 ↔ 1579 By similarity
Disulfide bondi1574 ↔ 1588 By similarity
Disulfide bondi1590 ↔ 1603 By similarity
Disulfide bondi1609 ↔ 1621 By similarity
Disulfide bondi1616 ↔ 1630 By similarity
Glycosylationi1627 – 16271N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1632 ↔ 1645 By similarity
Glycosylationi1658 – 16581N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1668 – 16681N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1725 ↔ 1737 By similarity
Disulfide bondi1732 ↔ 1746 By similarity
Disulfide bondi1748 ↔ 1761 By similarity
Disulfide bondi1767 ↔ 1780 By similarity
Disulfide bondi1774 ↔ 1789 By similarity
Disulfide bondi1791 ↔ 1803 By similarity
Disulfide bondi1809 ↔ 1821 By similarity
Disulfide bondi1816 ↔ 1830 By similarity
Disulfide bondi1832 ↔ 1845 By similarity
Disulfide bondi1851 ↔ 1861 By similarity
Disulfide bondi1856 ↔ 1870 By similarity
Glycosylationi1858 – 18581N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi1872 ↔ 1884 By similarity
Disulfide bondi1890 ↔ 1903 By similarity
Disulfide bondi1898 ↔ 1912 By similarity
Disulfide bondi1914 ↔ 1927 By similarity
Disulfide bondi1933 ↔ 1945 By similarity
Disulfide bondi1940 ↔ 1954 By similarity
Disulfide bondi1956 ↔ 1967 By similarity
Disulfide bondi1973 ↔ 1985 By similarity
Disulfide bondi1980 ↔ 1994 By similarity
Disulfide bondi1996 ↔ 2009 By similarity
Glycosylationi2033 – 20331N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi2088 ↔ 2100 By similarity
Disulfide bondi2095 ↔ 2109 By similarity
Disulfide bondi2111 ↔ 2124 By similarity
Disulfide bondi2130 ↔ 2141 By similarity
Disulfide bondi2136 ↔ 2150 By similarity
Disulfide bondi2152 ↔ 2164 By similarity
Disulfide bondi2170 ↔ 2181 By similarity
Disulfide bondi2177 ↔ 2190 By similarity
Disulfide bondi2192 ↔ 2205 By similarity
Disulfide bondi2211 ↔ 2225 By similarity
Disulfide bondi2218 ↔ 2234 By similarity
Disulfide bondi2236 ↔ 2250 By similarity
Disulfide bondi2256 ↔ 2268 By similarity
Disulfide bondi2263 ↔ 2277 By similarity
Disulfide bondi2279 ↔ 2292 By similarity
Disulfide bondi2367 ↔ 2379 By similarity
Disulfide bondi2374 ↔ 2388 By similarity
Disulfide bondi2390 ↔ 2403 By similarity
Disulfide bondi2409 ↔ 2420 By similarity
Disulfide bondi2416 ↔ 2429 By similarity
Disulfide bondi2431 ↔ 2444 By similarity
Disulfide bondi2450 ↔ 2461 By similarity
Disulfide bondi2457 ↔ 2470 By similarity
Disulfide bondi2472 ↔ 2483 By similarity
Disulfide bondi2489 ↔ 2502 By similarity
Disulfide bondi2496 ↔ 2511 By similarity
Disulfide bondi2513 ↔ 2526 By similarity
Disulfide bondi2532 ↔ 2542 By similarity
Disulfide bondi2538 ↔ 2551 By similarity
Disulfide bondi2553 ↔ 2566 By similarity
Disulfide bondi2572 ↔ 2584 By similarity
Disulfide bondi2579 ↔ 2593 By similarity
Disulfide bondi2595 ↔ 2608 By similarity
Disulfide bondi2614 ↔ 2625 By similarity
Disulfide bondi2621 ↔ 2634 By similarity
Disulfide bondi2636 ↔ 2648 By similarity
Glycosylationi2713 – 27131N-linked (GlcNAc...) Reviewed prediction

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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Belongs to the fibrillin family.
Contains 44 EGF-like domains.

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 107 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

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