KEGG T01001: 2200

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

K06825

fibrillin 1

Organism

hsa Homo sapiens (human)

Disease

H00653	Marfan syndrome
H00661	MASS phenotype
H00662	Ectopia lentis
H00673	Weill-Marchesani syndrome
H00900	Geleophysic dysplasia
H01173	Stiff skin syndrome (SSS)

Brite

Cell adhesion molecules and their ligands [BR:hsa04516]
2. Integrin Family
  Beta3 integrins
   VNR
    ITGB3; integrin beta 3 [KO:K06493]
     2200 (FBN1)
Glycosaminoglycan binding proteins [BR:hsa00536]
Heparan sulfate/Haparin
  Extracellular matrix molecules (General comment) Storage depot, cell adhesion and motility, ECM/barrier formation
   2200 (FBN1)

SSDB

Motif

Pfam:

EGF_CA cEGF TB FXa_inhibition EGF hEGF EGF_3 Plasmod_Pvs28

Other DBs

NCBI-GeneID:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

Vega:

Pharos:

P35555(Tbio)

UniProt:

P35555

Structure

PDB:

1UZK 1UZP 2W86 1UZJ 2M74 1UZQ 1LMJ 1APJ 1EMN 1EMO

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

All links

Ontology (2)   
   KEGG BRITE (2)   
Disease (15)   
   KEGG DISEASE (6)   
   OMIM (9)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (19)   
   RefSeq(nuc) (1)   
   GenBank (9)   
   EMBL (9)   
Protein domain (8)   
   Pfam (8)   
All databases (65)   

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