ID F6U495_HUMAN Unreviewed; 302 AA. AC F6U495; DT 22-FEB-2012, integrated into UniProtKB/TrEMBL. DT 22-FEB-2012, sequence version 1. DT 13-FEB-2019, entry version 61. DE SubName: Full=Fibrillin-1 {ECO:0000313|Ensembl:ENSP00000440294}; GN Name=FBN1 {ECO:0000313|Ensembl:ENSP00000440294}; 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 {ECO:0000313|Ensembl:ENSP00000440294, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000440294, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16572171; DOI=10.1038/nature04601; RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S., RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., RA Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., RA Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., RA Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., RA Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., RA Sneddon K.M., Stewart S., Sougnez C., Stone S.M., Topham K., RA Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., RA Nusbaum C.; RT "Analysis of the DNA sequence and duplication history of human RT chromosome 15."; RL Nature 440:671-675(2006). RN [2] {ECO:0000313|Ensembl:ENSP00000440294} RP IDENTIFICATION. RG Ensembl; RL Submitted (JUL-2011) to UniProtKB. CC -!- CAUTION: Lacks conserved residue(s) required for the propagation CC of feature annotation. {ECO:0000256|PROSITE-ProRule:PRU00076}. 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; AC022467; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC084757; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC084758; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF459685; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR ProteinModelPortal; F6U495; -. DR EPD; F6U495; -. DR jPOST; F6U495; -. DR MaxQB; F6U495; -. DR PeptideAtlas; F6U495; -. DR PRIDE; F6U495; -. DR Ensembl; ENST00000537463; ENSP00000440294; ENSG00000166147. DR UCSC; uc059iym.1; human. DR EuPathDB; HostDB:ENSG00000166147.13; -. DR HGNC; HGNC:3603; FBN1. DR OpenTargets; ENSG00000166147; -. DR eggNOG; ENOG410IR7H; Eukaryota. DR eggNOG; ENOG410XSTY; LUCA. DR GeneTree; ENSGT00940000155011; -. DR ChiTaRS; FBN1; human. DR Proteomes; UP000005640; Chromosome 15. DR Bgee; ENSG00000166147; Expressed in 229 organ(s), highest expression level in adipose tissue of abdominal region. DR ExpressionAtlas; F6U495; baseline and differential. DR GO; GO:0062023; C:collagen-containing extracellular matrix; IEA:InterPro. DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro. DR GO; GO:0005201; F:extracellular matrix structural constituent; IEA:InterPro. DR InterPro; IPR013032; EGF-like_CS. DR InterPro; IPR000742; EGF-like_dom. DR InterPro; IPR011398; FBN. DR InterPro; IPR040872; Fibrillin_U_N. DR InterPro; IPR017878; TB_dom. DR PANTHER; PTHR24039; PTHR24039; 1. DR Pfam; PF18193; Fibrillin_U_N; 1. DR SMART; SM00181; EGF; 3. DR PROSITE; PS00022; EGF_1; 1. DR PROSITE; PS01186; EGF_2; 1. DR PROSITE; PS50026; EGF_3; 1. DR PROSITE; PS51364; TB; 1. PE 1: Evidence at protein level; KW Complete proteome {ECO:0000313|Proteomes:UP000005640}; KW Disulfide bond {ECO:0000256|PROSITE-ProRule:PRU00076}; KW EGF-like domain {ECO:0000256|PROSITE-ProRule:PRU00076}; KW Proteomics identification {ECO:0000213|MaxQB:F6U495, KW ECO:0000213|PeptideAtlas:F6U495}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}. FT SIGNAL 1 27 {ECO:0000256|SAM:SignalP}. FT CHAIN 28 302 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5003347586. FT DOMAIN 146 178 EGF-like. {ECO:0000259|PROSITE:PS50026}. FT DOMAIN 184 212 TB. {ECO:0000259|PROSITE:PS51364}. FT DISULFID 150 160 {ECO:0000256|PROSITE-ProRule:PRU00076}. FT DISULFID 168 177 {ECO:0000256|PROSITE-ProRule:PRU00076}. SQ SEQUENCE 302 AA; 32096 MW; 96399F009F385706 CRC64; MRRGRLLEIA LGFTVLLASY TSHGADANLE AGNVKETRAS RAKRRGGGGH DALKGPNVCG SRYNAYCCPG WKTLPGGNQC IVPICRHSCG DGFCSRPNMC TCPSGQIAPS CGSRSIQHCN IRCMNGGSCS DDHCLCQKGY IGTHCGQPVC ESGCLNGGRC VAPNRCACTY GFTGPQCERD YRTGPCFTVI SNQMCQGQLS GIVCTKTLCC ATTSMNVKLE HTTVANMLYV PIQQEASNVA AVPGGLEMAL SALIWTNVPM EPICAASMQT ARIPWDLTAV CARKDTQVMA SLVQTLMSAL RT //