GenomeNet

Database: UniProt
Entry: Q75N90
LinkDB: Q75N90
Original site: Q75N90 
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   10-APR-2019, entry version 147.
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;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; 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;
RP   LEU-935; 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
RT   nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome
RT   patients.";
RL   J. Hum. Genet. 49:404-407(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ASN-662;
RP   ILE-1326; 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.
RT   The complete sequences of 100 new cDNA clones from brain which code
RT   for large 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.,
RA   Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA   Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA   Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA   Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA   Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA   Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA   Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA   Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA   Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA   Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA   Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA   Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA   Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA   Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA   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-
CC       12 nm extracellular calcium-binding microfibrils, which occur
CC       either in association with elastin or in elastin-free bundles.
CC       Fibrillin-containing microfibrils provide long-term force bearing
CC       structural 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
CC       such as skeletal muscle, tendon, skin, perichondrium and
CC       periosteum. Highly expressed in fetal lung, brain, kidney.
CC       Expressed at low level in prostate, testis, mammary gland, uterus,
CC       ovary, placenta, bladder, adrenal gland, thyroid, fetal thymus,
CC       fetal liver, liver, fetal heart and heart.
CC       {ECO:0000269|PubMed:14962672}.
CC   -!- PTM: Probably forms intermolecular disulfide bonds either with
CC       other 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=Translation N-terminally shortened.; Evidence={ECO:0000305};
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   UniGene; Hs.370362; -.
DR   ProteinModelPortal; Q75N90; -.
DR   SMR; Q75N90; -.
DR   BioGrid; 124100; 13.
DR   IntAct; Q75N90; 15.
DR   MINT; Q75N90; -.
DR   STRING; 9606.ENSP00000470498; -.
DR   GlyConnect; 1237; -.
DR   iPTMnet; Q75N90; -.
DR   PhosphoSitePlus; Q75N90; -.
DR   BioMuta; FBN3; -.
DR   DMDM; 296439346; -.
DR   EPD; Q75N90; -.
DR   jPOST; Q75N90; -.
DR   PaxDb; Q75N90; -.
DR   PeptideAtlas; Q75N90; -.
DR   PRIDE; Q75N90; -.
DR   ProteomicsDB; 68644; -.
DR   Ensembl; ENST00000270509; ENSP00000270509; ENSG00000142449.
DR   Ensembl; ENST00000600128; ENSP00000470498; ENSG00000142449.
DR   Ensembl; ENST00000601739; ENSP00000472324; ENSG00000142449.
DR   GeneID; 84467; -.
DR   KEGG; hsa:84467; -.
DR   UCSC; uc002mjf.4; human.
DR   CTD; 84467; -.
DR   DisGeNET; 84467; -.
DR   EuPathDB; HostDB:ENSG00000142449.12; -.
DR   GeneCards; FBN3; -.
DR   H-InvDB; HIX0014707; -.
DR   HGNC; HGNC:18794; FBN3.
DR   HPA; HPA049482; -.
DR   MIM; 608529; gene.
DR   neXtProt; NX_Q75N90; -.
DR   OpenTargets; ENSG00000142449; -.
DR   PharmGKB; PA38681; -.
DR   eggNOG; KOG4193; Eukaryota.
DR   eggNOG; ENOG410XSD2; LUCA.
DR   GeneTree; ENSGT00950000183158; -.
DR   HOGENOM; HOG000231768; -.
DR   HOVERGEN; HBG005643; -.
DR   InParanoid; Q75N90; -.
DR   OMA; HQCVACP; -.
DR   OrthoDB; 1174178at2759; -.
DR   PhylomeDB; Q75N90; -.
DR   TreeFam; TF316849; -.
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   ChiTaRS; FBN3; human.
DR   GenomeRNAi; 84467; -.
DR   PRO; PR:Q75N90; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   Bgee; ENSG00000142449; Expressed in 87 organ(s), highest expression level in stomach.
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:0005509; F:calcium ion binding; IEA:InterPro.
DR   GO; GO:0005201; F:extracellular matrix structural constituent; IBA:GO_Central.
DR   Gene3D; 3.90.290.10; -; 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; 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; PTHR24039; 1.
DR   Pfam; PF12662; cEGF; 2.
DR   Pfam; PF07645; EGF_CA; 39.
DR   Pfam; PF18193; Fibrillin_U_N; 1.
DR   Pfam; PF12661; hEGF; 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; Complete proteome; Disulfide bond; EGF-like domain;
KW   Extracellular matrix; Glycoprotein; Polymorphism; Reference proteome;
KW   Repeat; Secreted; Signal.
FT   SIGNAL        1     31       {ECO:0000255}.
FT   PROPEP       32     48       {ECO:0000305}.
FT                                /FTId=PRO_0000436891.
FT   CHAIN        49   2689       Fibrillin-3.
FT                                /FTId=PRO_0000007586.
FT   CHAIN      2690   2809       Fibrillin-3 C-terminal peptide.
FT                                {ECO:0000250|UniProtKB:P35555}.
FT                                /FTId=PRO_0000436892.
FT   DOMAIN      147    179       EGF-like 1. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00076}.
FT   DOMAIN      185    237       TB 1.
FT   DOMAIN      247    288       EGF-like 2; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN      293    346       TB 2.
FT   DOMAIN      408    448       EGF-like 3. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00076}.
FT   DOMAIN      449    488       EGF-like 4; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN      489    530       EGF-like 5; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN      531    571       EGF-like 6; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN      572    612       EGF-like 7; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN      618    670       TB 3.
FT   DOMAIN      682    723       EGF-like 8; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN      724    765       EGF-like 9; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN      766    805       EGF-like 10; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN      810    861       TB 4.
FT   DOMAIN      869    910       EGF-like 11; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN      915    966       TB 5.
FT   DOMAIN      986   1027       EGF-like 12; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1028   1070       EGF-like 13; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1071   1112       EGF-like 14; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1113   1154       EGF-like 15; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1155   1195       EGF-like 16; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1196   1237       EGF-like 17. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00076}.
FT   DOMAIN     1238   1279       EGF-like 18; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1280   1320       EGF-like 19; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1321   1361       EGF-like 20; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1362   1403       EGF-like 21; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1404   1444       EGF-like 22; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1445   1485       EGF-like 23; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1490   1546       TB 6.
FT   DOMAIN     1563   1604       EGF-like 24; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1605   1646       EGF-like 25; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1651   1703       TB 7.
FT   DOMAIN     1721   1762       EGF-like 26; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1763   1804       EGF-like 27; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1805   1846       EGF-like 28. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00076}.
FT   DOMAIN     1847   1885       EGF-like 29; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1886   1928       EGF-like 30; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1929   1968       EGF-like 31; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     1969   2010       EGF-like 32; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     2015   2068       TB 8.
FT   DOMAIN     2084   2125       EGF-like 33; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     2126   2165       EGF-like 34; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     2166   2206       EGF-like 35; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     2207   2251       EGF-like 36; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     2252   2293       EGF-like 37; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     2298   2351       TB 9.
FT   DOMAIN     2363   2404       EGF-like 38; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     2405   2445       EGF-like 39; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     2446   2484       EGF-like 40; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     2485   2527       EGF-like 41; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     2528   2567       EGF-like 42; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     2568   2609       EGF-like 43; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DOMAIN     2610   2649       EGF-like 44; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   CARBOHYD    406    406       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1025   1025       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1442   1442       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1538   1538       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1627   1627       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1658   1658       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1668   1668       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   1858   1858       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   2033   2033       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD   2713   2713       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   DISULFID    151    161       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    155    167       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    169    178       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    251    263       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    258    272       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    274    287       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    412    424       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    419    433       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    435    447       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    453    463       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    458    472       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    474    487       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    493    505       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    500    514       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    516    529       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    535    546       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    541    555       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    557    570       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    576    587       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    582    596       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    598    611       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    686    698       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    693    707       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    709    722       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    728    740       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    735    749       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    751    764       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    770    780       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    775    789       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    791    804       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    873    885       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    880    894       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    896    909       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    990   1002       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    997   1011       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1013   1026       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1032   1044       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1039   1053       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1055   1069       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1075   1087       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1082   1096       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1098   1111       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1117   1129       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1124   1138       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1140   1153       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1159   1170       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1166   1179       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1181   1194       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1200   1212       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1207   1221       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1223   1236       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1242   1254       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1249   1263       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1265   1278       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1284   1297       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1291   1306       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1308   1319       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1325   1338       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1332   1347       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1349   1360       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1366   1378       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1373   1387       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1389   1402       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1408   1419       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1414   1428       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1430   1443       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1449   1460       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1455   1469       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1471   1484       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1567   1579       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1574   1588       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1590   1603       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1609   1621       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1616   1630       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1632   1645       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1725   1737       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1732   1746       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1748   1761       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1767   1780       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1774   1789       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1791   1803       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1809   1821       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1816   1830       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1832   1845       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1851   1861       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1856   1870       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1872   1884       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1890   1903       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1898   1912       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1914   1927       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1933   1945       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1940   1954       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1956   1967       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1973   1985       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1980   1994       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   1996   2009       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2088   2100       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2095   2109       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2111   2124       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2130   2141       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2136   2150       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2152   2164       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2170   2181       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2177   2190       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2192   2205       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2211   2225       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2218   2234       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2236   2250       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2256   2268       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2263   2277       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2279   2292       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2367   2379       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2374   2388       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2390   2403       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2409   2420       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2416   2429       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2431   2444       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2450   2461       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2457   2470       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2472   2483       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2489   2502       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2496   2511       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2513   2526       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2532   2542       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2538   2551       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2553   2566       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2572   2584       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2579   2593       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2595   2608       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2614   2625       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2621   2634       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID   2636   2648       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   VARIANT     119    119       G -> A (in dbSNP:rs3813773).
FT                                /FTId=VAR_019493.
FT   VARIANT     329    329       P -> L (in dbSNP:rs7246376).
FT                                /FTId=VAR_055736.
FT   VARIANT     371    371       M -> I (in dbSNP:rs35999680).
FT                                /FTId=VAR_055737.
FT   VARIANT     473    473       R -> Q (in dbSNP:rs35277492).
FT                                {ECO:0000269|PubMed:15221638}.
FT                                /FTId=VAR_019494.
FT   VARIANT     542    542       V -> I (in dbSNP:rs36124795).
FT                                /FTId=VAR_055738.
FT   VARIANT     662    662       D -> N (in dbSNP:rs4804271).
FT                                {ECO:0000269|PubMed:11347906,
FT                                ECO:0000269|PubMed:14962672,
FT                                ECO:0000269|PubMed:15221638}.
FT                                /FTId=VAR_019495.
FT   VARIANT     868    868       D -> N (in dbSNP:rs35025963).
FT                                /FTId=VAR_055739.
FT   VARIANT     935    935       R -> L. {ECO:0000269|PubMed:15221638}.
FT                                /FTId=VAR_019496.
FT   VARIANT     938    938       V -> F. {ECO:0000269|PubMed:15221638}.
FT                                /FTId=VAR_019497.
FT   VARIANT    1083   1083       R -> W (in dbSNP:rs35579498).
FT                                {ECO:0000269|PubMed:15221638}.
FT                                /FTId=VAR_019498.
FT   VARIANT    1209   1209       Q -> R (in dbSNP:rs34684510).
FT                                /FTId=VAR_055740.
FT   VARIANT    1293   1293       S -> G (in dbSNP:rs4804063).
FT                                /FTId=VAR_055741.
FT   VARIANT    1293   1293       S -> N (in dbSNP:rs4804063).
FT                                /FTId=VAR_019499.
FT   VARIANT    1326   1326       V -> I (in dbSNP:rs12975322).
FT                                {ECO:0000269|PubMed:11347906}.
FT                                /FTId=VAR_019500.
FT   VARIANT    1431   1431       N -> I (in dbSNP:rs17160194).
FT                                /FTId=VAR_055742.
FT   VARIANT    1614   1614       G -> S (in dbSNP:rs33967815).
FT                                {ECO:0000269|PubMed:14962672,
FT                                ECO:0000269|PubMed:15221638}.
FT                                /FTId=VAR_019501.
FT   VARIANT    1806   1806       R -> Q (in dbSNP:rs3829817).
FT                                {ECO:0000269|PubMed:11347906}.
FT                                /FTId=VAR_019502.
FT   VARIANT    1850   1850       E -> K (in dbSNP:rs10404519).
FT                                /FTId=VAR_055743.
FT   VARIANT    1869   1869       N -> K (in dbSNP:rs12150963).
FT                                {ECO:0000269|PubMed:15221638}.
FT                                /FTId=VAR_019503.
FT   VARIANT    1904   1904       L -> F (in dbSNP:rs12608849).
FT                                /FTId=VAR_055744.
FT   VARIANT    1904   1904       L -> P (in dbSNP:rs12608849).
FT                                {ECO:0000269|PubMed:15221638}.
FT                                /FTId=VAR_019504.
FT   VARIANT    1939   1939       T -> N (in dbSNP:rs7245558).
FT                                /FTId=VAR_055745.
FT   VARIANT    1958   1958       P -> H (in dbSNP:rs7245429).
FT                                /FTId=VAR_019505.
FT   VARIANT    1966   1966       H -> D (in dbSNP:rs34167077).
FT                                /FTId=VAR_055746.
FT   VARIANT    2005   2005       N -> T (in dbSNP:rs17202741).
FT                                /FTId=VAR_055747.
FT   VARIANT    2314   2314       S -> N (in dbSNP:rs17160151).
FT                                /FTId=VAR_055748.
FT   VARIANT    2471   2471       R -> H (in dbSNP:rs3848570).
FT                                /FTId=VAR_055749.
FT   VARIANT    2540   2540       H -> Q (in dbSNP:rs35477781).
FT                                /FTId=VAR_055750.
FT   VARIANT    2594   2594       V -> I (in dbSNP:rs35318692).
FT                                /FTId=VAR_055751.
FT   VARIANT    2610   2610       E -> D (in dbSNP:rs7257948).
FT                                {ECO:0000269|PubMed:11347906,
FT                                ECO:0000269|PubMed:14962672,
FT                                ECO:0000269|PubMed:15221638}.
FT                                /FTId=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
//
DBGET integrated database retrieval system