KEGG   Homo sapiens (human): 2200
Entry
2200              CDS       T01001                                 

Gene name
FBN1, ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
Definition
(RefSeq) fibrillin 1
  KO
K06825  fibrillin 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04350  TGF-beta signaling pathway
Disease
H00653  Marfan syndrome
H00661  MASS phenotype
H00662  Ectopia lentis
H00673  Weill-Marchesani syndrome
H00900  Geleophysic dysplasia
H01173  Stiff skin syndrome
H02228  Acromicric dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    2200 (FBN1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    2200 (FBN1)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   2200 (FBN1)
SSDB
Motif
Pfam: EGF_CA cEGF EGF FXa_inhibition TB hEGF EGF_3 Plasmod_Pvs28 Fibrillin_U_N EGF_MSP1_1
Other DBs
NCBI-GeneID: 2200
NCBI-ProteinID: NP_000129
OMIM: 134797
HGNC: 3603
Ensembl: ENSG00000166147
Vega: OTTHUMG00000172218
Pharos: P35555(Tbio)
UniProt: P35555
Structure
PDB: 

Position
15q21.1
AA seq 2871 aa
MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGPNVCG
SRYNAYCCPGWKTLPGGNQCIVPICRHSCGDGFCSRPNMCTCPSGQIAPSCGSRSIQHCN
IRCMNGGSCSDDHCLCQKGYIGTHCGQPVCESGCLNGGRCVAPNRCACTYGFTGPQCERD
YRTGPCFTVISNQMCQGQLSGIVCTKTLCCATVGRAWGHPCEMCPAQPHPCRRGFIPNIR
TGACQDVDECQAIPGLCQGGNCINTVGSFECKCPAGHKLNEVSQKCEDIDECSTIPGICE
GGECTNTVSSYFCKCPPGFYTSPDGTRCIDVRPGYCYTALTNGRCSNQLPQSITKMQCCC
DAGRCWSPGVTVAPEMCPIRATEDFNKLCSVPMVIPGRPEYPPPPLGPIPPVLPVPPGFP
PGPQIPVPRPPVEYLYPSREPPRVLPVNVTDYCQLVRYLCQNGRCIPTPGSYRCECNKGF
QLDLRGECIDVDECEKNPCAGGECINNQGSYTCQCRAGYQSTLTRTECRDIDECLQNGRI
CNNGRCINTDGSFHCVCNAGFHVTRDGKNCEDMDECSIRNMCLNGMCINEDGSFKCICKP
GFQLASDGRYCKDINECETPGICMNGRCVNTDGSYRCECFPGLAVGLDGRVCVDTHMRST
CYGGYKRGQCIKPLFGAVTKSECCCASTEYAFGEPCQPCPAQNSAEYQALCSSGPGMTSA
GSDINECALDPDICPNGICENLRGTYKCICNSGYEVDSTGKNCVDINECVLNSLLCDNGQ
CRNTPGSFVCTCPKGFIYKPDLKTCEDIDECESSPCINGVCKNSPGSFICECSSESTLDP
TKTICIETIKGTCWQTVIDGRCEININGATLKSQCCSSLGAAWGSPCTLCQVDPICGKGY
SRIKGTQCEDIDECEVFPGVCKNGLCVNTRGSFKCQCPSGMTLDATGRICLDIRLETCFL
RYEDEECTLPIAGRHRMDACCCSVGAAWGTEECEECPMRNTPEYEELCPRGPGFATKEIT
NGKPFFKDINECKMIPSLCTHGKCRNTIGSFKCRCDSGFALDSEERNCTDIDECRISPDL
CGRGQCVNTPGDFECKCDEGYESGFMMMKNCMDIDECQRDPLLCRGGVCHNTEGSYRCEC
PPGHQLSPNISACIDINECELSAHLCPNGRCVNLIGKYQCACNPGYHSTPDRLFCVDIDE
CSIMNGGCETFCTNSEGSYECSCQPGFALMPDQRSCTDIDECEDNPNICDGGQCTNIPGE
YRCLCYDGFMASEDMKTCVDVNECDLNPNICLSGTCENTKGSFICHCDMGYSGKKGKTGC
TDINECEIGAHNCGKHAVCTNTAGSFKCSCSPGWIGDGIKCTDLDECSNGTHMCSQHADC
KNTMGSYRCLCKEGYTGDGFTCTDLDECSENLNLCGNGQCLNAPGGYRCECDMGFVPSAD
GKACEDIDECSLPNICVFGTCHNLPGLFRCECEIGYELDRSGGNCTDVNECLDPTTCISG
NCVNTPGSYICDCPPDFELNPTRVGCVDTRSGNCYLDIRPRGDNGDTACSNEIGVGVSKA
SCCCSLGKAWGTPCEMCPAVNTSEYKILCPGGEGFRPNPITVILEDIDECQELPGLCQGG
KCINTFGSFQCRCPTGYYLNEDTRVCDDVNECETPGICGPGTCYNTVGNYTCICPPDYMQ
VNGGNNCMDMRRSLCYRNYYADNQTCDGELLFNMTKKMCCCSYNIGRAWNKPCEQCPIPS
TDEFATLCGSQRPGFVIDIYTGLPVDIDECREIPGVCENGVCINMVGSFRCECPVGFFYN
DKLLVCEDIDECQNGPVCQRNAECINTAGSYRCDCKPGYRFTSTGQCNDRNECQEIPNIC
SHGQCIDTVGSFYCLCHTGFKTNDDQTMCLDINECERDACGNGTCRNTIGSFNCRCNHGF
ILSHNNDCIDVDECASGNGNLCRNGQCINTVGSFQCQCNEGYEVAPDGRTCVDINECLLE
PRKCAPGTCQNLDGSYRCICPPGYSLQNEKCEDIDECVEEPEICALGTCSNTEGSFKCLC
PEGFSLSSSGRRCQDLRMSYCYAKFEGGKCSSPKSRNHSKQECCCALKGEGWGDPCELCP
TEPDEAFRQICPYGSGIIVGPDDSAVDMDECKEPDVCKHGQCINTDGSYRCECPFGYILA
GNECVDTDECSVGNPCGNGTCKNVIGGFECTCEEGFEPGPMMTCEDINECAQNPLLCAFR
CVNTYGSYECKCPVGYVLREDRRMCKDEDECEEGKHDCTEKQMECKNLIGTYMCICGPGY
QRRPDGEGCVDENECQTKPGICENGRCLNTRGSYTCECNDGFTASPNQDECLDNREGYCF
TEVLQNMCQIGSSNRNPVTKSECCCDGGRGWGPHCEICPFQGTVAFKKLCPHGRGFMTNG
ADIDECKVIHDVCRNGECVNDRGSYHCICKTGYTPDITGTSCVDLNECNQAPKPCNFICK
NTEGSYQCSCPKGYILQEDGRSCKDLDECATKQHNCQFLCVNTIGGFTCKCPPGFTQHHT
SCIDNNECTSDINLCGSKGICQNTPGSFTCECQRGFSLDQTGSSCEDVDECEGNHRCQHG
CQNIIGGYRCSCPQGYLQHYQWNQCVDENECLSAHICGGASCHNTLGSYKCMCPAGFQYE
QFSGGCQDINECGSAQAPCSYGCSNTEGGYLCGCPPGYFRIGQGHCVSGMGMGRGNPEPP
VSGEMDDNSLSPEACYECKINGYPKRGRKRRSTNETDASNIEDQSETEANVSLASWDVEK
TAIFAFNISHVSNKVRILELLPALTTLTNHNRYLIESGNEDGFFKINQKEGISYLHFTKK
KPVAGTYSLQISSTPLYKKKELNQLEDKYDKDYLSGELGDNLKMKIQVLLH
NT seq 8616 nt   +upstreamnt  +downstreamnt
atgcgtcgagggcgtctgctggagatcgccctgggatttaccgtgcttttagcgtcctac
acgagccatggggcggacgccaatttggaggctgggaacgtgaaggaaaccagagccagt
cgggccaagagaagaggcggtggaggacacgacgcgcttaaaggacccaatgtctgtgga
tcacgttataatgcttactgttgccctggatggaaaaccttacctggcggaaatcagtgt
attgtccccatttgccggcattcctgtggggatggattttgttcgaggccaaatatgtgc
acttgcccatctggtcagatagctccttcctgtggctccagatccatacaacactgcaat
attcgctgtatgaatggaggtagctgcagtgacgatcactgtctatgccagaaaggatac
atagggactcactgtggacaacctgtttgtgaaagtggctgtctcaatggaggaaggtgt
gtggccccaaatcgatgtgcatgcacttacggatttactggaccccagtgtgaaagagat
tacaggacaggcccatgttttactgtgatcagcaaccagatgtgccagggacaactcagc
gggattgtctgcacaaaaacgctctgctgtgccacagtcggccgagcctggggccacccc
tgtgagatgtgtcctgcccagcctcacccctgccgccgtggcttcattccaaatatccgc
acgggagcttgtcaagatgtggatgaatgccaggccatccccgggctctgtcagggagga
aattgcattaatactgttgggtcttttgagtgcaaatgccctgctggacacaaacttaat
gaagtgtcacaaaaatgtgaagatattgatgaatgcagcaccattcctggaatctgtgaa
gggggtgaatgtacaaacacagtcagcagttacttttgcaaatgtccccctggtttttac
acctctccagatggtaccagatgcatagatgttcgcccaggatactgttacacagctctg
acaaacgggcgctgctctaaccagctgccacagtccataaccaaaatgcagtgctgctgt
gatgccggccgatgctggtctccaggggtcactgtcgcccctgagatgtgtcccatcaga
gcaaccgaggatttcaacaagctgtgctctgttcctatggtaattcctgggagaccagaa
tatcctcccccaccccttggccccattcctccagttctccctgttcctcctggctttcct
cctggacctcaaattccggtccctcgaccaccagtggaatatctgtatccatctcgggag
ccaccaagggtgctgccagtaaacgttactgattactgccagttggtccgctatctctgt
caaaatggacgctgcattccaactcctgggagttaccggtgtgagtgcaacaaagggttc
cagctggacctccgtggggagtgtattgatgttgatgaatgtgagaaaaacccctgtgct
ggtggtgagtgtattaacaaccagggttcgtacacctgtcagtgccgagctggatatcag
agcacactcacgcggacagaatgccgagacattgatgagtgtttacagaatggccggatc
tgcaataatggacgctgcatcaacacagatggcagttttcattgcgtgtgtaatgcgggc
tttcatgttacacgagatgggaagaactgtgaagatatggatgaatgcagcataaggaac
atgtgccttaatggaatgtgtatcaatgaagatggcagttttaaatgtatttgcaaacct
ggattccagctggcatcagatggacgttattgcaaagacattaacgagtgtgaaacccct
gggatctgcatgaatgggcgttgcgtcaacactgatggctcctacagatgtgaatgcttc
cctggactggctgtgggtctggatggccgtgtgtgtgttgacacacacatgcggagcaca
tgctatggtggatacaagagaggccagtgtatcaaacctttgtttggtgctgtcactaaa
tctgaatgctgttgcgccagcactgagtatgcatttggggaaccttgccagccgtgtcct
gcacagaattcagcggaatatcaggcactctgcagcagtgggccaggaatgacgtcagca
ggcagtgatataaatgaatgtgcactagatcctgatatttgcccaaatggaatctgtgaa
aaccttcgtgggacctataaatgtatatgcaattcaggatatgaagtggattcaactggg
aaaaactgcgttgatattaatgaatgtgtactgaacagtctcctttgtgacaatggacaa
tgtagaaatactcctggaagttttgtctgtacctgccccaagggatttatctacaaacct
gatctaaaaacatgtgaagacattgatgaatgcgaatcaagtccttgcattaatggagtc
tgcaagaacagcccaggctcttttatttgtgaatgttcttctgaaagtactttggatcca
acaaaaaccatctgcatagaaaccatcaagggcacttgctggcagactgtcattgatggg
cgatgtgagatcaacatcaatggagccaccttaaagtcccagtgctgctcctccctcggt
gctgcgtggggaagcccgtgcaccctatgccaagttgatcccatatgtggtaaagggtac
tcaagaattaaaggaacacaatgtgaagatatagatgaatgtgaagtgttcccaggagtg
tgtaaaaatggcctgtgtgttaacactagggggtcattcaagtgtcagtgtcccagtgga
atgactttggatgccacaggaaggatctgtcttgatatccgcctggaaacctgcttcctg
aggtacgaggacgaggagtgcaccctgcctattgctggccgccaccgcatggacgcctgc
tgctgctccgtcggggcagcctggggtactgaggaatgcgaggagtgtcccatgagaaat
actcctgagtacgaggagctgtgtccgagaggacccggatttgccacaaaagaaattaca
aatggaaagcctttcttcaaagatatcaatgagtgcaagatgatacccagcctctgcacc
cacggcaagtgcagaaacaccattggcagctttaagtgcaggtgtgacagcggctttgct
cttgattctgaagaaaggaactgcacagacattgacgaatgccgcatatctcctgacctc
tgtggcagaggccagtgtgtgaacacccctggggactttgaatgcaagtgtgacgaaggc
tatgaaagtggattcatgatgatgaagaactgcatggatattgatgagtgtcagagagat
cctctcctatgccgaggtggtgtttgccataacacagagggaagttaccgctgtgaatgc
ccgcctggccatcagctgtcccccaacatctccgcgtgtatcgacatcaatgaatgtgag
ctgagtgcacacctgtgccccaatggccgttgcgtgaacctcatagggaagtatcagtgt
gcctgcaaccctggctaccattcaactcccgataggctattttgtgttgacattgatgaa
tgcagcataatgaatggtggttgtgaaaccttctgcacaaactctgaaggcagctatgaa
tgtagctgtcagccgggatttgcactaatgcctgaccagagatcatgcaccgacatcgat
gagtgtgaagataatcccaatatctgtgatggtggtcagtgcacaaatatccctggagag
tacaggtgcttgtgttatgatggattcatggcatctgaagacatgaagacttgtgtagat
gtcaatgagtgtgacctgaatccaaatatctgcctaagtgggacctgtgaaaacacgaaa
ggctcatttatctgccactgtgatatgggctactccggcaaaaaaggaaaaactggctgt
acagacatcaatgaatgtgaaattggagcacacaactgtggcaaacatgctgtatgtacc
aatacagcaggaagcttcaaatgtagctgcagtcccgggtggattggagatggcattaag
tgcactgatctggacgaatgttccaatggaacccatatgtgcagccagcatgcagactgc
aagaataccatgggatcttaccgctgtctgtgcaaggaaggatacacaggtgatggcttc
acttgtacagaccttgatgagtgctctgagaacctgaatctctgtggcaatggccagtgc
ctcaatgcaccaggaggataccgctgtgaatgcgacatgggcttcgtgcccagtgctgac
gggaaagcctgtgaagatattgatgagtgctcccttccgaacatctgtgtctttggaact
tgccacaacctccctggcctgttccgctgtgagtgtgagataggctacgaactggacaga
agcggcgggaactgcacagatgtgaatgaatgcctggatccaaccacgtgcatcagtggg
aactgtgtcaacactccaggcagctatatctgtgactgcccacctgattttgaactgaac
ccaactcgagttggctgtgttgatacccgctctggaaattgctatttggatattcgacct
cgaggagacaatggagatacagcctgcagcaatgaaattggagttggtgtttccaaagct
tcctgctgctgttctctgggtaaagcctggggtactccttgtgagatgtgtcctgctgtg
aacacatccgagtacaaaattctttgtcctggaggggaaggtttccgaccaaatcctatc
accgttatattggaagatattgatgagtgccaggagctaccagggctgtgccaaggagga
aaatgtatcaacacctttgggagtttccagtgccgctgtccaaccggctactacctgaat
gaagatacacgagtgtgtgatgatgtgaatgaatgtgagactcctggaatctgtggtcca
gggacatgttacaacaccgttggcaactacacctgtatctgtcctccagactacatgcaa
gtgaatgggggaaataattgcatggatatgagaagaagtttgtgctacagaaactactat
gctgacaaccagacctgtgatggagaattgttattcaacatgaccaagaagatgtgctgc
tgttcctacaacattggccgggcgtggaacaagccctgtgaacagtgtcccatcccaagt
acagatgagtttgctacactctgtggaagtcaaaggccaggctttgtcatcgacatttat
accggtttacccgttgatattgatgagtgccgggagatcccaggggtctgtgaaaatgga
gtgtgtatcaacatggttggcagcttccgatgtgaatgtccagtgggattcttctataat
gacaagttgttggtttgtgaagatattgacgagtgtcagaacggcccagtgtgccagcgc
aacgccgaatgcatcaacactgcaggcagctaccgctgtgactgtaagcccggctaccgc
ttcacctccacaggacagtgcaatgatcgtaatgaatgtcaagaaatccccaatatatgc
agtcatgggcagtgcattgacacagttggaagcttttattgcctttgccacactggtttt
aaaacaaatgatgaccaaaccatgtgcttggacataaatgaatgtgaaagagatgcctgt
gggaatggaacttgccggaacacaattggttccttcaactgccgctgcaatcatggtttc
atcctttctcacaacaatgactgtatagatgttgatgaatgtgcaagtggaaatgggaat
ctttgcagaaatggccaatgcattaatacagtggggtctttccagtgccagtgcaatgaa
ggctatgaggtggctccagatgggaggacctgtgtggatatcaatgaatgtcttctagaa
cccagaaaatgtgcaccaggtacctgtcaaaacttggatgggtcctacagatgcatttgc
ccacctggatacagtcttcaaaatgagaagtgtgaagatattgatgagtgtgtcgaagag
ccagaaatttgtgccctgggcacatgcagtaacactgaaggcagcttcaaatgtctgtgt
ccagaagggttttccttgtcctccagtggaagaaggtgccaagatttgcgaatgagctac
tgttatgcgaagtttgaaggaggaaagtgttcatcacccaaatccagaaatcactccaag
caggaatgctgctgtgccttgaagggagaaggctggggagacccctgcgagctctgcccc
acggaacctgatgaggccttccgccagatatgtccttatggaagtgggatcatcgtggga
cctgatgattcagcagttgatatggacgaatgcaaagaacccgatgtctgtaaacatgga
cagtgcatcaatacagatggttcctatcgctgcgagtgtccctttggttatattctagca
gggaatgaatgtgtagatactgatgaatgttctgttggcaatccttgtggaaatggaacc
tgcaagaatgtgattggaggttttgaatgcacctgcgaggagggatttgagcccggtcca
atgatgacatgtgaagatataaatgaatgtgcccagaatcctctgctctgtgccttccga
tgtgtgaacacttatgggtcatatgaatgcaaatgtcccgtgggatatgtgctcagagaa
gaccgtaggatgtgcaaagatgaggatgagtgtgaagagggaaaacatgactgtactgaa
aaacaaatggaatgcaagaacctcattggcacatatatgtgcatctgtggacccgggtat
cagcggagacctgatggagaaggctgtgtagatgagaatgaatgtcagacgaagccaggg
atctgtgagaatgggcgctgcctcaacacccgtgggagctacacctgtgagtgtaatgat
gggtttaccgccagccccaaccaggacgagtgccttgacaatcgggaagggtactgcttc
acagaggtgctacaaaacatgtgtcagatcggctccagcaacaggaaccccgtcaccaaa
tcggaatgctgctgtgacggagggagaggctggggtccccactgtgagatctgccctttc
caggggactgtggctttcaagaaactctgtccccatggccgaggattcatgaccaatgga
gcagatatcgatgaatgcaaggttattcacgatgtttgccgaaatggggaatgtgtcaat
gacagaggatcatatcattgcatttgtaaaactgggtacactccagatataactgggact
tcctgtgtagatctgaacgagtgcaaccaggctcccaaaccctgcaattttatctgcaaa
aacacagaagggagttaccagtgttcatgcccgaaaggctacattctgcaagaggatgga
aggagctgcaaagatcttgatgagtgtgcaaccaagcaacacaactgccagttcctatgt
gttaacaccattggcggcttcacatgcaaatgtcctcccggatttacccaacaccatacg
tcctgcattgataacaatgaatgcacctctgacatcaatctgtgcgggtctaagggcatt
tgccagaacactcctggaagcttcacctgtgaatgccagcggggattctcacttgatcag
accggctccagctgtgaagacgtggacgagtgtgagggtaaccaccgctgccagcatggc
tgccagaacatcattgggggctacaggtgcagctgcccccagggctacctccagcactac
cagtggaaccagtgtgttgatgaaaacgaatgcctcagcgctcacatctgcggaggagcc
tcctgtcacaacaccctggggagctacaagtgcatgtgtcccgccggcttccagtatgaa
cagttcagtggaggatgccaagacatcaatgaatgtggctctgcgcaggccccctgcagc
tatggctgttccaataccgagggcggttacctgtgtggctgtccacctggttacttccgc
ataggccaagggcactgtgtttctggaatgggcatgggccgaggaaacccagagccacct
gtcagtggtgaaatggatgacaattcactctccccagaggcttgttacgagtgtaagatc
aatggctaccccaaacggggcaggaaacggagaagcacaaacgaaactgatgcctccaat
atcgaggatcagtctgagacagaagccaatgtgagtcttgcaagttgggatgttgagaag
acagccatctttgctttcaatatttcccacgtcagtaacaaggttcgaatcctagaactc
cttccagctcttacaactctgacgaatcacaacagatacttgatcgaatctggaaatgaa
gatggcttctttaaaatcaaccaaaaggaagggatcagctacctccacttcacaaagaag
aagccagtggctggaacctattcattacaaatcagtagtactccactttataaaaagaaa
gaacttaaccaactagaagacaaatatgacaaagactacctcagtggtgaactgggtgat
aatctgaagatgaaaatccaggttttgcttcattaa

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