FBN3_HUMAN
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 03-AUG-2022, entry version 166.
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};
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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; 17.
DR IntAct; Q75N90; 15.
DR MINT; Q75N90; -.
DR STRING; 9606.ENSP00000470498; -.
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 GlyGen; Q75N90; 10 sites, 13 N-linked glycans (2 sites).
DR iPTMnet; Q75N90; -.
DR PhosphoSitePlus; Q75N90; -.
DR BioMuta; FBN3; -.
DR DMDM; 296439346; -.
DR EPD; Q75N90; -.
DR jPOST; Q75N90; -.
DR MassIVE; Q75N90; -.
DR PaxDb; Q75N90; -.
DR PeptideAtlas; Q75N90; -.
DR PRIDE; Q75N90; -.
DR ProteomicsDB; 68644; -.
DR Antibodypedia; 63727; 27 antibodies from 9 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 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; ACEDHRA; -.
DR OrthoDB; 1174178at2759; -.
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; 31 hits in 1067 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 114 other tissues.
DR ExpressionAtlas; Q75N90; baseline and differential.
DR Genevisible; Q75N90; HS.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; IEA:InterPro.
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 Gene3D; 3.90.290.10; -; 9.
DR InterPro; IPR026823; cEGF.
DR InterPro; IPR001881; EGF-like_Ca-bd_dom.
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; IPR011398; FBN.
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; PTHR24039:SF0; PTHR24039:SF0; 7.
DR Pfam; PF12662; cEGF; 2.
DR Pfam; PF12947; EGF_3; 1.
DR Pfam; PF07645; EGF_CA; 38.
DR Pfam; PF18193; Fibrillin_U_N; 1.
DR Pfam; PF00683; TB; 9.
DR SMART; SM00181; EGF; 46.
DR SMART; SM00179; EGF_CA; 43.
DR SUPFAM; SSF57184; SSF57184; 12.
DR SUPFAM; SSF57581; SSF57581; 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.
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
