KEGG   Homo sapiens (human): 2200
Entry
2200              CDS       T01001                                 
Symbol
FBN1, ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
Name
(RefSeq) fibrillin 1
  KO
K06825  fibrillin 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04350  TGF-beta signaling pathway
hsa04820  Cytoskeleton in muscle cells
Network
nt06507  TGFB signaling
  Element
N01460  Plasmin mediated activation of latent TGF-beta
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)
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    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 hEGF FXa_inhibition EGF TB EGF_3 Plasmod_Pvs28 Fibrillin_U_N FBN_EGF_st1 EGF_MSP1_1
Other DBs
NCBI-GeneID: 2200
NCBI-ProteinID: NP_000129
OMIM: 134797
HGNC: 3603
Ensembl: ENSG00000166147
UniProt: P35555
Structure
Position
15:complement(48408313..48645709)
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Network (2)   
   KEGG NETWORK (2)   
Disease (16)   
   KEGG DISEASE (7)   
   OMIM (9)   
Genome (1)   
   KEGG GENOME (1)   
Gene (65)   
   KEGG ORTHOLOGY (1)   
   RefGene (59)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (28)   
   RefSeq(nuc) (4)   
   GenBank (12)   
   EMBL (12)   
3D Structure (11)   
   PDB (11)   
Protein domain (11)   
   Pfam (11)   
All databases (144)   

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