ID FBN3_HUMAN Reviewed; 2809 AA. AC Q75N90; Q75N91; Q75N92; Q75N93; Q86SJ5; Q96JP8; DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot. DT 18-MAY-2010, sequence version 3. DT 27-MAR-2024, entry version 174. DE RecName: Full=Fibrillin-3; DE Contains: DE RecName: Full=Fibrillin-3 C-terminal peptide {ECO:0000305}; DE Flags: Precursor; GN Name=FBN3; Synonyms=KIAA1776; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE RP SPECIFICITY, AND VARIANTS ASN-662; SER-1614 AND ASP-2610. RX PubMed=14962672; DOI=10.1016/j.ygeno.2003.08.023; RA Corson G.M., Charbonneau N.L., Keene D.R., Sakai L.Y.; RT "Differential expression of fibrillin-3 adds to microfibril variety in RT human and avian, but not rodent, connective tissues."; RL Genomics 83:461-472(2004). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLN-473; ASN-662; LEU-935; RP PHE-938; TRP-1083; SER-1614; LYS-1869; PRO-1904 AND ASP-2610. RX PubMed=15221638; DOI=10.1007/s10038-004-0168-x; RA Uyeda T., Takahashi T., Eto S., Sato T., Xu G., Kanezaki R., Toki T., RA Yonesaka S., Ito E.; RT "Three novel mutations of the fibrillin-1 gene and ten single nucleotide RT polymorphisms of the fibrillin-3 gene in Marfan syndrome patients."; RL J. Hum. Genet. 49:404-407(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ASN-662; ILE-1326; RP GLN-1806 AND ASP-2610. RC TISSUE=Brain; RX PubMed=11347906; DOI=10.1093/dnares/8.2.85; RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XX. The RT complete sequences of 100 new cDNA clones from brain which code for large RT proteins in vitro."; RL DNA Res. 8:85-95(2001). RN [4] RP SEQUENCE REVISION. RA Nakajima D., Nakayama M., Kikuno R., Nagase T., Ohara O.; RL Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15057824; DOI=10.1038/nature02399; RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A., RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., RA Rubin E.M., Lucas S.M.; RT "The DNA sequence and biology of human chromosome 19."; RL Nature 428:529-535(2004). CC -!- FUNCTION: [Fibrillin-3]: Fibrillins are structural components of 10-12 CC nm extracellular calcium-binding microfibrils, which occur either in CC association with elastin or in elastin-free bundles. Fibrillin- CC containing microfibrils provide long-term force bearing structural CC support. {ECO:0000269|PubMed:14962672}. CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular CC matrix {ECO:0000269|PubMed:14962672}. CC -!- TISSUE SPECIFICITY: Predominantly expressed in connective tissues such CC as skeletal muscle, tendon, skin, perichondrium and periosteum. Highly CC expressed in fetal lung, brain, kidney. Expressed at low level in CC prostate, testis, mammary gland, uterus, ovary, placenta, bladder, CC adrenal gland, thyroid, fetal thymus, fetal liver, liver, fetal heart CC and heart. {ECO:0000269|PubMed:14962672}. CC -!- PTM: Probably forms intermolecular disulfide bonds either with other CC FBN3 molecules or with other components of the microfibrils. CC {ECO:0000250}. CC -!- SIMILARITY: Belongs to the fibrillin family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAB47408.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AY165863; AAO18145.1; -; mRNA. DR EMBL; AY165864; AAO18146.1; -; mRNA. DR EMBL; AY165865; AAO18147.1; -; mRNA. DR EMBL; AB177797; BAD16733.1; -; Genomic_DNA. DR EMBL; AB177798; BAD16734.1; -; Genomic_DNA. DR EMBL; AB177799; BAD16735.1; -; Genomic_DNA. DR EMBL; AB177800; BAD16736.1; -; Genomic_DNA. DR EMBL; AB053450; BAB47408.2; ALT_INIT; mRNA. DR EMBL; AC008946; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC022146; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR CCDS; CCDS12196.1; -. DR RefSeq; NP_001308360.1; NM_001321431.1. DR RefSeq; NP_115823.3; NM_032447.4. DR RefSeq; XP_016882861.1; XM_017027372.1. DR SMR; Q75N90; -. DR BioGRID; 124100; 18. DR IntAct; Q75N90; 15. DR MINT; Q75N90; -. DR STRING; 9606.ENSP00000270509; -. DR DrugBank; DB11093; Calcium citrate. DR DrugBank; DB11348; Calcium Phosphate. DR DrugBank; DB14481; Calcium phosphate dihydrate. DR GlyConnect; 1237; 13 N-Linked glycans (2 sites). DR GlyCosmos; Q75N90; 10 sites, 13 glycans. DR GlyGen; Q75N90; 26 sites, 13 N-linked glycans (2 sites), 1 O-linked glycan (16 sites). DR iPTMnet; Q75N90; -. DR PhosphoSitePlus; Q75N90; -. DR SwissPalm; Q75N90; -. DR BioMuta; FBN3; -. DR DMDM; 296439346; -. DR EPD; Q75N90; -. DR jPOST; Q75N90; -. DR MassIVE; Q75N90; -. DR PaxDb; 9606-ENSP00000470498; -. DR PeptideAtlas; Q75N90; -. DR ProteomicsDB; 68644; -. DR Antibodypedia; 63727; 39 antibodies from 10 providers. DR DNASU; 84467; -. DR Ensembl; ENST00000270509.6; ENSP00000270509.2; ENSG00000142449.13. DR Ensembl; ENST00000600128.6; ENSP00000470498.1; ENSG00000142449.13. DR Ensembl; ENST00000601739.5; ENSP00000472324.1; ENSG00000142449.13. DR GeneID; 84467; -. DR KEGG; hsa:84467; -. DR MANE-Select; ENST00000600128.6; ENSP00000470498.1; NM_032447.5; NP_115823.3. DR UCSC; uc002mjf.4; human. DR AGR; HGNC:18794; -. DR CTD; 84467; -. DR DisGeNET; 84467; -. DR GeneCards; FBN3; -. DR HGNC; HGNC:18794; FBN3. DR HPA; ENSG00000142449; Tissue enhanced (kidney, salivary gland). DR MIM; 608529; gene. DR neXtProt; NX_Q75N90; -. DR OpenTargets; ENSG00000142449; -. DR PharmGKB; PA38681; -. DR VEuPathDB; HostDB:ENSG00000142449; -. DR eggNOG; KOG1217; Eukaryota. DR GeneTree; ENSGT00950000183158; -. DR HOGENOM; CLU_000233_0_0_1; -. DR InParanoid; Q75N90; -. DR OMA; GHCVFGL; -. DR OrthoDB; 354414at2759; -. DR PhylomeDB; Q75N90; -. DR TreeFam; TF316849; -. DR PathwayCommons; Q75N90; -. DR Reactome; R-HSA-1474228; Degradation of the extracellular matrix. DR Reactome; R-HSA-1566948; Elastic fibre formation. DR Reactome; R-HSA-2129379; Molecules associated with elastic fibres. DR SignaLink; Q75N90; -. DR BioGRID-ORCS; 84467; 32 hits in 1145 CRISPR screens. DR ChiTaRS; FBN3; human. DR GenomeRNAi; 84467; -. DR Pharos; Q75N90; Tbio. DR PRO; PR:Q75N90; -. DR Proteomes; UP000005640; Chromosome 19. DR RNAct; Q75N90; Protein. DR Bgee; ENSG00000142449; Expressed in cortical plate and 115 other cell types or tissues. DR ExpressionAtlas; Q75N90; baseline and differential. DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central. DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-KW. DR GO; GO:0001527; C:microfibril; IEA:UniProt. DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro. DR GO; GO:0005201; F:extracellular matrix structural constituent; IBA:GO_Central. DR GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central. DR CDD; cd00054; EGF_CA; 25. DR Gene3D; 2.10.25.10; Laminin; 45. DR Gene3D; 3.90.290.10; TGF-beta binding (TB) domain; 9. DR InterPro; IPR026823; cEGF. DR InterPro; IPR001881; EGF-like_Ca-bd_dom. DR InterPro; IPR013032; EGF-like_CS. DR InterPro; IPR000742; EGF-like_dom. DR InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site. DR InterPro; IPR018097; EGF_Ca-bd_CS. DR InterPro; IPR024731; EGF_dom. DR InterPro; IPR049388; FBN_EGF_N. DR InterPro; IPR040872; Fibrillin_U_N. DR InterPro; IPR009030; Growth_fac_rcpt_cys_sf. DR InterPro; IPR017878; TB_dom. DR InterPro; IPR036773; TB_dom_sf. DR PANTHER; PTHR24034; EGF-LIKE DOMAIN-CONTAINING PROTEIN; 1. DR PANTHER; PTHR24034:SF166; VACUOLAR-SORTING RECEPTOR 1; 1. DR Pfam; PF12662; cEGF; 3. DR Pfam; PF12947; EGF_3; 1. DR Pfam; PF07645; EGF_CA; 35. DR Pfam; PF21364; FBN_EGF_st1; 1. DR Pfam; PF18193; Fibrillin_U_N; 1. DR Pfam; PF12661; hEGF; 2. DR Pfam; PF00683; TB; 9. DR PIRSF; PIRSF036312; Fibrillin; 1. DR SMART; SM00181; EGF; 46. DR SMART; SM00179; EGF_CA; 43. DR SUPFAM; SSF57196; EGF/Laminin; 8. DR SUPFAM; SSF57184; Growth factor receptor domain; 12. DR SUPFAM; SSF57581; TB module/8-cys domain; 9. DR PROSITE; PS00010; ASX_HYDROXYL; 41. DR PROSITE; PS00022; EGF_1; 2. DR PROSITE; PS01186; EGF_2; 36. DR PROSITE; PS50026; EGF_3; 44. DR PROSITE; PS01187; EGF_CA; 40. DR PROSITE; PS51364; TB; 9. DR Genevisible; Q75N90; HS. PE 2: Evidence at transcript level; KW Calcium; Disulfide bond; EGF-like domain; Extracellular matrix; KW Glycoprotein; Reference proteome; Repeat; Secreted; Signal. FT SIGNAL 1..31 FT /evidence="ECO:0000255" FT PROPEP 32..48 FT /evidence="ECO:0000305" FT /id="PRO_0000436891" FT CHAIN 49..2689 FT /note="Fibrillin-3" FT /id="PRO_0000007586" FT CHAIN 2690..2809 FT /note="Fibrillin-3 C-terminal peptide" FT /evidence="ECO:0000250|UniProtKB:P35555" FT /id="PRO_0000436892" FT DOMAIN 147..179 FT /note="EGF-like 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 185..237 FT /note="TB 1" FT DOMAIN 247..288 FT /note="EGF-like 2; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 293..346 FT /note="TB 2" FT DOMAIN 408..448 FT /note="EGF-like 3" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 449..488 FT /note="EGF-like 4; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 489..530 FT /note="EGF-like 5; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 531..571 FT /note="EGF-like 6; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 572..612 FT /note="EGF-like 7; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 618..670 FT /note="TB 3" FT DOMAIN 682..723 FT /note="EGF-like 8; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 724..765 FT /note="EGF-like 9; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 766..805 FT /note="EGF-like 10; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 810..861 FT /note="TB 4" FT DOMAIN 869..910 FT /note="EGF-like 11; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 915..966 FT /note="TB 5" FT DOMAIN 986..1027 FT /note="EGF-like 12; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1028..1070 FT /note="EGF-like 13; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1071..1112 FT /note="EGF-like 14; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1113..1154 FT /note="EGF-like 15; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1155..1195 FT /note="EGF-like 16; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1196..1237 FT /note="EGF-like 17" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1238..1279 FT /note="EGF-like 18; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1280..1320 FT /note="EGF-like 19; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1321..1361 FT /note="EGF-like 20; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1362..1403 FT /note="EGF-like 21; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1404..1444 FT /note="EGF-like 22; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1445..1485 FT /note="EGF-like 23; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1490..1546 FT /note="TB 6" FT DOMAIN 1563..1604 FT /note="EGF-like 24; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1605..1646 FT /note="EGF-like 25; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1651..1703 FT /note="TB 7" FT DOMAIN 1721..1762 FT /note="EGF-like 26; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1763..1804 FT /note="EGF-like 27; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1805..1846 FT /note="EGF-like 28" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1847..1885 FT /note="EGF-like 29; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1886..1928 FT /note="EGF-like 30; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1929..1968 FT /note="EGF-like 31; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1969..2010 FT /note="EGF-like 32; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2015..2068 FT /note="TB 8" FT DOMAIN 2084..2125 FT /note="EGF-like 33; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2126..2165 FT /note="EGF-like 34; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2166..2206 FT /note="EGF-like 35; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2207..2251 FT /note="EGF-like 36; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2252..2293 FT /note="EGF-like 37; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2298..2351 FT /note="TB 9" FT DOMAIN 2363..2404 FT /note="EGF-like 38; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2405..2445 FT /note="EGF-like 39; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2446..2484 FT /note="EGF-like 40; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2485..2527 FT /note="EGF-like 41; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2528..2567 FT /note="EGF-like 42; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2568..2609 FT /note="EGF-like 43; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2610..2649 FT /note="EGF-like 44; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT CARBOHYD 406 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1025 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1442 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1538 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1627 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1658 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1668 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1858 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 2033 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 2713 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT DISULFID 151..161 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 155..167 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 169..178 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 251..263 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 258..272 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 274..287 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 412..424 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 419..433 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 435..447 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 453..463 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 458..472 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 474..487 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 493..505 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 500..514 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 516..529 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 535..546 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 541..555 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 557..570 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 576..587 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 582..596 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 598..611 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 686..698 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 693..707 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 709..722 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 728..740 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 735..749 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 751..764 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 770..780 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 775..789 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 791..804 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 873..885 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 880..894 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 896..909 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 990..1002 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 997..1011 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1013..1026 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1032..1044 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1039..1053 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1055..1069 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1075..1087 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1082..1096 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1098..1111 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1117..1129 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1124..1138 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1140..1153 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1159..1170 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1166..1179 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1181..1194 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1200..1212 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1207..1221 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1223..1236 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1242..1254 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1249..1263 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1265..1278 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1284..1297 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1291..1306 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1308..1319 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1325..1338 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1332..1347 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1349..1360 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1366..1378 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1373..1387 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1389..1402 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1408..1419 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1414..1428 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1430..1443 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1449..1460 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1455..1469 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1471..1484 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1567..1579 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1574..1588 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1590..1603 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1609..1621 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1616..1630 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1632..1645 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1725..1737 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1732..1746 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1748..1761 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1767..1780 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1774..1789 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1791..1803 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1809..1821 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1816..1830 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1832..1845 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1851..1861 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1856..1870 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1872..1884 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1890..1903 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1898..1912 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1914..1927 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1933..1945 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1940..1954 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1956..1967 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1973..1985 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1980..1994 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1996..2009 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2088..2100 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2095..2109 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2111..2124 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2130..2141 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2136..2150 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2152..2164 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2170..2181 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2177..2190 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2192..2205 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2211..2225 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2218..2234 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2236..2250 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2256..2268 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2263..2277 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2279..2292 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2367..2379 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2374..2388 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2390..2403 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2409..2420 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2416..2429 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2431..2444 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2450..2461 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2457..2470 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2472..2483 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2489..2502 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2496..2511 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2513..2526 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2532..2542 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2538..2551 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2553..2566 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2572..2584 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2579..2593 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2595..2608 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2614..2625 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2621..2634 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2636..2648 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT VARIANT 119 FT /note="G -> A (in dbSNP:rs3813773)" FT /id="VAR_019493" FT VARIANT 329 FT /note="P -> L (in dbSNP:rs7246376)" FT /id="VAR_055736" FT VARIANT 371 FT /note="M -> I (in dbSNP:rs35999680)" FT /id="VAR_055737" FT VARIANT 473 FT /note="R -> Q (in dbSNP:rs35277492)" FT /evidence="ECO:0000269|PubMed:15221638" FT /id="VAR_019494" FT VARIANT 542 FT /note="V -> I (in dbSNP:rs36124795)" FT /id="VAR_055738" FT VARIANT 662 FT /note="D -> N (in dbSNP:rs4804271)" FT /evidence="ECO:0000269|PubMed:11347906, FT ECO:0000269|PubMed:14962672, ECO:0000269|PubMed:15221638" FT /id="VAR_019495" FT VARIANT 868 FT /note="D -> N (in dbSNP:rs35025963)" FT /id="VAR_055739" FT VARIANT 935 FT /note="R -> L" FT /evidence="ECO:0000269|PubMed:15221638" FT /id="VAR_019496" FT VARIANT 938 FT /note="V -> F" FT /evidence="ECO:0000269|PubMed:15221638" FT /id="VAR_019497" FT VARIANT 1083 FT /note="R -> W (in dbSNP:rs35579498)" FT /evidence="ECO:0000269|PubMed:15221638" FT /id="VAR_019498" FT VARIANT 1209 FT /note="Q -> R (in dbSNP:rs34684510)" FT /id="VAR_055740" FT VARIANT 1293 FT /note="S -> G (in dbSNP:rs4804063)" FT /id="VAR_055741" FT VARIANT 1293 FT /note="S -> N (in dbSNP:rs4804063)" FT /id="VAR_019499" FT VARIANT 1326 FT /note="V -> I (in dbSNP:rs12975322)" FT /evidence="ECO:0000269|PubMed:11347906" FT /id="VAR_019500" FT VARIANT 1431 FT /note="N -> I (in dbSNP:rs17160194)" FT /id="VAR_055742" FT VARIANT 1614 FT /note="G -> S (in dbSNP:rs33967815)" FT /evidence="ECO:0000269|PubMed:14962672, FT ECO:0000269|PubMed:15221638" FT /id="VAR_019501" FT VARIANT 1806 FT /note="R -> Q (in dbSNP:rs3829817)" FT /evidence="ECO:0000269|PubMed:11347906" FT /id="VAR_019502" FT VARIANT 1850 FT /note="E -> K (in dbSNP:rs10404519)" FT /id="VAR_055743" FT VARIANT 1869 FT /note="N -> K (in dbSNP:rs12150963)" FT /evidence="ECO:0000269|PubMed:15221638" FT /id="VAR_019503" FT VARIANT 1904 FT /note="L -> F (in dbSNP:rs12608849)" FT /id="VAR_055744" FT VARIANT 1904 FT /note="L -> P (in dbSNP:rs12608849)" FT /evidence="ECO:0000269|PubMed:15221638" FT /id="VAR_019504" FT VARIANT 1939 FT /note="T -> N (in dbSNP:rs7245558)" FT /id="VAR_055745" FT VARIANT 1958 FT /note="P -> H (in dbSNP:rs7245429)" FT /id="VAR_019505" FT VARIANT 1966 FT /note="H -> D (in dbSNP:rs34167077)" FT /id="VAR_055746" FT VARIANT 2005 FT /note="N -> T (in dbSNP:rs17202741)" FT /id="VAR_055747" FT VARIANT 2314 FT /note="S -> N (in dbSNP:rs17160151)" FT /id="VAR_055748" FT VARIANT 2471 FT /note="R -> H (in dbSNP:rs3848570)" FT /id="VAR_055749" FT VARIANT 2540 FT /note="H -> Q (in dbSNP:rs35477781)" FT /id="VAR_055750" FT VARIANT 2594 FT /note="V -> I (in dbSNP:rs35318692)" FT /id="VAR_055751" FT VARIANT 2610 FT /note="E -> D (in dbSNP:rs7257948)" FT /evidence="ECO:0000269|PubMed:11347906, FT ECO:0000269|PubMed:14962672, ECO:0000269|PubMed:15221638" FT /id="VAR_019506" SQ SEQUENCE 2809 AA; 300356 MW; FE47EF22C1307C14 CRC64; MTLEGLYLAR GPLARLLLAW SALLCMAGGQ GRWDGALEAA GPGRVRRRGS PGILQGPNVC GSRFHAYCCP GWRTFPGRSQ CVVPICRRAC GEGFCSQPNL CTCADGTLAP SCGVSRGSGC SVSCMNGGTC RGASCLCQKG YTGTVCGQPI CDRGCHNGGR CIGPNRCACV YGFMGPQCER DYRTGPCFGQ VGPEGCQHQL TGLVCTKALC CATVGRAWGL PCELCPAQPH PCRRGFIPNI HTGACQDVDE CQAVPGLCQG GSCVNMVGSF HCRCPVGHRL SDSSAACEDY RAGACFSVLF GGRCAGDLAG HYTRRQCCCD RGRCWAAGPV PELCPPRGSN EFQQLCAQRL PLLPGHPGLF PGLLGFGSNG MGPPLGPARL NPHGSDARGI PSLGPGNSNI GTATLNQTID ICRHFTNLCL NGRCLPTPSS YRCECNVGYT QDVRGECIDV DECTSSPCHH GDCVNIPGTY HCRCYPGFQA TPTRQACVDV DECIVSGGLC HLGRCVNTEG SFQCVCNAGF ELSPDGKNCV DHNECATSTM CVNGVCLNED GSFSCLCKPG FLLAPGGHYC MDIDECQTPG ICVNGHCTNT EGSFRCQCLG GLAVGTDGRV CVDTHVRSTC YGAIEKGSCA RPFPGTVTKS ECCCANPDHG FGEPCQLCPA KDSAEFQALC SSGLGITTDG RDINECALDP EVCANGVCEN LRGSYRCVCN LGYEAGASGK DCTDVDECAL NSLLCDNGWC QNSPGSYSCS CPPGFHFWQD TEICKDVDEC LSSPCVSGVC RNLAGSYTCK CGPGSRLDPS GTFCLDSTKG TCWLKIQESR CEVNLQGASL RSECCATLGA AWGSPCERCE IDPACARGFA RMTGVTCDDV NECESFPGVC PNGRCVNTAG SFRCECPEGL MLDASGRLCV DVRLEPCFLR WDEDECGVTL PGKYRMDVCC CSIGAVWGVE CEACPDPESL EFASLCPRGL GFASRDFLSG RPFYKDVNEC KVFPGLCTHG TCRNTVGSFH CACAGGFALD AQERNCTDID ECRISPDLCG QGTCVNTPGS FECECFPGYE SGFMLMKNCM DVDECARDPL LCRGGTCTNT DGSYKCQCPP GHELTAKGTA CEDIDECSLS DGLCPHGQCV NVIGAFQCSC HAGFQSTPDR QGCVDINECR VQNGGCDVHC INTEGSYRCS CGQGYSLMPD GRACADVDEC EENPRVCDQG HCTNMPGGHR CLCYDGFMAT PDMRTCVDVD ECDLNPHICL HGDCENTKGS FVCHCQLGYM VRKGATGCSD VDECEVGGHN CDSHASCLNI PGSFSCRCLP GWVGDGFECH DLDECVSQEH RCSPRGDCLN VPGSYRCTCR QGFAGDGFFC EDRDECAENV DLCDNGQCLN APGGYRCECE MGFDPTEDHR ACQDVDECAQ GNLCAFGSCE NLPGMFRCIC NGGYELDRGG GNCTDINECA DPVNCINGVC INTPGSYLCS CPQDFELNPS GVGCVDTRAG NCFLETHDRG DSGISCSAEI GVGVTRASCC CSLGRAWGNP CELCPMANTT EYRTLCPGGE GFQPNRITVI LEDIDECQEL PGLCQGGDCV NTFGSFQCEC PPGYHLSEHT RICEDIDECS THSGICGPGT CYNTLGNYTC VCPAEYLQVN GGNNCMDMRK SVCFRHYNGT CQNELAFNVT RKMCCCSYNI GQAWNRPCEA CPTPISPDYQ ILCGNQAPGF LTDIHTGKPL DIDECGEIPA ICANGICINQ IGSFRCECPA GFNYNSILLA CEDVDECGSR ESPCQQNADC INIPGSYRCK CTRGYKLSPG GACVGRNECR EIPNVCSHGD CMDTEGSYMC LCHRGFQASA DQTLCMDIDE CDRQPCGNGT CKNIIGSYNC LCFPGFVVTH NGDCVDFDEC TTLVGQVCRF GHCLNTAGSF HCLCQDGFEL TADGKNCVDT NECLSLAGTC LPGTCQNLEG SFRCICPPGF QVQSDHCIDI DECSEEPNLC LFGTCTNSPG SFQCLCPPGF VLSDNGHRCF DTRQSFCFTR FEAGKCSVPK AFNTTKTRCC CSKRPGEGWG DPCELCPQEG SAAFQELCPF GHGAVPGPDD SREDVNECAE NPGVCTNGVC VNTDGSFRCE CPFGYSLDFT GINCVDTDEC SVGHPCGQGT CTNVIGGFEC ACADGFEPGL MMTCEDIDEC SLNPLLCAFR CHNTEGSYLC TCPAGYTLRE DGAMCRDVDE CADGQQDCHA RGMECKNLIG TFACVCPPGM RPLPGSGEGC TDDNECHAQP DLCVNGRCVN TAGSFRCDCD EGFQPSPTLT ECHDIRQGPC FAEVLQTMCR SLSSSSEAVT RAECCCGGGR GWGPRCELCP LPGTSAYRKL CPHGSGYTAE GRDVDECRML AHLCAHGECI NSLGSFRCHC QAGYTPDATA TTCLDMDECS QVPKPCTFLC KNTKGSFLCS CPRGYLLEED GRTCKDLDEC TSRQHNCQFL CVNTVGAFTC RCPPGFTQHH QACFDNDECS AQPGPCGAHG HCHNTPGSFR CECHQGFTLV SSGHGCEDVN ECDGPHRCQH GCQNQLGGYR CSCPQGFTQH SQWAQCVDEN ECALSPPTCG SASCRNTLGG FRCVCPSGFD FDQALGGCQE VDECAGRRGP CSYSCANTPG GFLCGCPQGY FRAGQGHCVS GLGFSPGPQD TPDKEELLSS EACYECKING LSPRDRPRRS AHRDHQVNLA TLDSEALLTL GLNLSHLGRA ERILELRPAL EGLEGRIRYV IVRGNEQGFF RMHHLRGVSS LQLGRRRPGP GTYRLEVVSH MAGPWGVQPE GQPGPWGQAL RLKVQLQLL //