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Protein

Fibrillin-1

Gene

FBN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Fibrillin-1: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring roles (PubMed:27026396). Fibrillin-1 also plays a key role in tissue homeostasis through specific interactions with growth factors, such as the bone morphogenetic proteins (BMPs), growth and differentiation factors (GDFs) and latent transforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein and proteoglycan components. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.1 PublicationBy similarity2 Publications
Asprosin: Hormone that targets the liver to increase plasma glucose levels. Secreted by white adipose tissue and circulates in the plasma. Acts in response to fasting and promotes blood glucose elevation by binding to the surface of hepathocytes. Promotes hepathocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation.1 Publication

GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • extracellular matrix constituent conferring elasticity Source: UniProtKB
  • extracellular matrix structural constituent Source: UniProtKB
  • integrin binding Source: UniProtKB
  • protein complex binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hormone

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiR-HSA-1474228. Degradation of the extracellular matrix.
R-HSA-1566948. Elastic fibre formation.
R-HSA-2129379. Molecules associated with elastic fibres.
R-HSA-216083. Integrin cell surface interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Fibrillin-1
Cleaved into the following chain:
Asprosin1 Publication
Gene namesi
Name:FBN1
Synonyms:FBN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:3603. FBN1.

Subcellular locationi

  • Secreted 1 Publication

  • Note: Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequentely separated by furin (PubMed:24982166).1 Publication
Asprosin :
Fibrillin-1 :

GO - Cellular componenti

  • basement membrane Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: UniProtKB
  • microfibril Source: UniProtKB
  • proteinaceous extracellular matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Marfan syndrome (MFS)42 Publications
The disease is caused by mutations affecting the gene represented in this entry. The majority of the more than thousand mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.
Disease descriptionA hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.
See also OMIM:154700
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201Y → C in MFS. 1 Publication
VAR_023859
Natural varianti55 – 551G → E in MFS. 1 Publication
VAR_075985
Natural varianti57 – 571N → D in MFS. 1 Publication
VAR_075986
Natural varianti62 – 621R → C in MFS; also in a patient with ectopia lentis and retinal detachment. 1 Publication
Corresponds to variant rs25403 [ dbSNP | Ensembl ].
VAR_017967
Natural varianti80 – 801C → G in MFS. 1 Publication
VAR_065981
Natural varianti89 – 891C → F in MFS. 1 Publication
Corresponds to variant rs112660651 [ dbSNP | Ensembl ].
VAR_017968
Natural varianti100 – 1001C → Y in MFS. 1 Publication
VAR_075989
Natural varianti111 – 1111C → R in MFS. 1 Publication
VAR_002276
Natural varianti114 – 1141R → C in MFS. 1 Publication
VAR_017969
Natural varianti122 – 1221R → C in MFS. 4 Publications
Corresponds to variant rs137854467 [ dbSNP | Ensembl ].
VAR_002277
Natural varianti123 – 1231C → Y in MFS. 2 Publications
VAR_023860
Natural varianti129 – 1291C → Y in MFS; severe neonatal. 2 Publications
VAR_002278
Natural varianti136 – 1361C → S in MFS. 1 Publication
VAR_075991
Natural varianti154 – 1541C → S in MFS. 1 Publication
VAR_017971
Natural varianti166 – 1661C → F in MFS. 1 Publication
VAR_002279
Natural varianti166 – 1661C → S in MFS. 1 Publication
VAR_002280
Natural varianti177 – 1771C → R in MFS. 1 Publication
Corresponds to variant rs363853 [ dbSNP | Ensembl ].
VAR_023861
Natural varianti177 – 1771C → S in MFS. 1 Publication
VAR_075994
Natural varianti177 – 1771C → Y in MFS. 1 Publication
VAR_075995
Natural varianti214 – 2141G → S in MFS. 2 Publications
VAR_075996
Natural varianti217 – 2171W → G in MFS. 2 Publications
VAR_002281
Natural varianti219 – 2191H → Q in MFS. 1 Publication
VAR_075998
Natural varianti224 – 2241C → R in MFS. 1 Publication
VAR_023862
Natural varianti240 – 2401R → C in MFS and ECTOL1. 4 Publications
Corresponds to variant rs137854480 [ dbSNP | Ensembl ].
VAR_017972
Natural varianti248 – 28712624Missing in MFS. 1 Publication
VAR_075999Add
BLAST
Natural varianti348 – 28712524Missing in MFS. 1 Publication
VAR_076000Add
BLAST
Natural varianti351 – 28712521Missing in MFS. 1 Publication
VAR_076001Add
BLAST
Natural varianti365 – 3651C → R in MFS. 1 Publication
VAR_076003
Natural varianti366 – 28712506Missing in MFS. 1 Publication
VAR_076005Add
BLAST
Natural varianti366 – 3661W → C in MFS. 1 Publication
VAR_017973
Natural varianti429 – 28712443Missing in MFS. 2 Publications
VAR_076006Add
BLAST
Natural varianti439 – 4391R → G in MFS. 1 Publication
VAR_023863
Natural varianti449 – 4491V → I in MFS. 1 Publication
VAR_076007
Natural varianti474 – 4741C → W in MFS. 1 Publication
VAR_076008
Natural varianti476 – 4761C → G in MFS. 1 Publication
VAR_002282
Natural varianti488 – 4881C → R in MFS. 1 Publication
VAR_076009
Natural varianti490 – 4901D → Y in MFS. 1 Publication
VAR_002283
Natural varianti499 – 4991C → Y in MFS. 1 Publication
VAR_065982
Natural varianti504 – 5041C → F in MFS. 1 Publication
VAR_010776
Natural varianti507 – 5071Missing in MFS. 1 Publication
VAR_023864
Natural varianti541 – 5411C → Y in MFS. 1 Publication
VAR_023865
Natural varianti545 – 5451R → C in MFS and ECTOL1. 3 Publications
VAR_002284
Natural varianti546 – 5461C → W in MFS. 1 Publication
VAR_076011
Natural varianti548 – 5481N → I in MFS. 1 Publication
Corresponds to variant rs137854462 [ dbSNP | Ensembl ].
VAR_002285
Natural varianti560 – 5601G → S in MFS. 1 Publication
VAR_017974
Natural varianti565 – 28712307Missing in MFS. 1 Publication
VAR_076012Add
BLAST
Natural varianti570 – 5701C → Y in MFS. 1 Publication
VAR_017975
Natural varianti576 – 5761C → Y in MFS. 1 Publication
VAR_076013
Natural varianti582 – 5821C → R in MFS. 1 Publication
VAR_076014
Natural varianti587 – 5871C → Y in MFS. 2 Publications
VAR_002286
Natural varianti592 – 5921G → D in MFS. 1 Publication
VAR_017976
Natural varianti596 – 5961C → Y in MFS. 1 Publication
VAR_017977
Natural varianti598 – 5981C → W in MFS. 1 Publication
VAR_017978
Natural varianti611 – 6111C → R in MFS. 1 Publication
VAR_065983
Natural varianti617 – 6171C → G in MFS. 1 Publication
VAR_065984
Natural varianti623 – 6231C → F in MFS. 1 Publication
VAR_076016
Natural varianti627 – 6271R → C in MFS; enhances proteolytic degradation. 5 Publications
VAR_002287
Natural varianti629 – 6335Missing in MFS. 1 Publication
VAR_023867
Natural varianti635 – 6351Y → C in MFS. 2 Publications
VAR_023868
Natural varianti636 – 6361R → I in MFS. 1 Publication
VAR_023869
Natural varianti652 – 6521C → S in MFS. 1 Publication
VAR_017979
Natural varianti654 – 6541D → N in MFS. 2 Publications
VAR_017980
Natural varianti661 – 6611C → R in MFS. 1 Publication
VAR_002288
Natural varianti681 – 6811S → Y in MFS. 1 Publication
VAR_017982
Natural varianti683 – 6831C → R in MFS. 1 Publication
VAR_017983
Natural varianti684 – 6841C → Y in MFS. 1 Publication
VAR_076020
Natural varianti685 – 6851C → W in MFS. 2 Publications
Corresponds to variant rs140603 [ dbSNP | Ensembl ].
VAR_017984
Natural varianti685 – 6851C → Y in MFS. 1 Publication
VAR_065985
Natural varianti699 – 6991C → S in MFS. 1 Publication
VAR_076021
Natural varianti705 – 7051A → T in MFS. 2 Publications
VAR_002289
Natural varianti711 – 7111C → Y in MFS. 2 Publications
VAR_002290
Natural varianti721 – 7211G → C in MFS. 1 Publication
VAR_076022
Natural varianti723 – 7231D → A in MFS. 1 Publication
Corresponds to variant rs137854463 [ dbSNP | Ensembl ].
VAR_002291
Natural varianti723 – 7231D → V in MFS. 1 Publication
VAR_017985
Natural varianti727 – 7271C → Y in MFS. 1 Publication
VAR_076023
Natural varianti734 – 7341C → F in MFS. 1 Publication
VAR_017986
Natural varianti746 – 7461Y → C in MFS. 1 Publication
VAR_002292
Natural varianti748 – 7481C → Y in MFS. 2 Publications
VAR_017987
Natural varianti750 – 7501C → G in MFS; enhances proteolytic degradation. 2 Publications
VAR_002293
Natural varianti776 – 7761C → G in MFS. 1 Publication
VAR_017988
Natural varianti776 – 7761C → Y in MFS. 1 Publication
VAR_017989
Natural varianti781 – 7811C → R in MFS. 2 Publications
VAR_017990
Natural varianti781 – 7811C → Y in MFS. 1 Publication
VAR_023870
Natural varianti790 – 7901C → Y in MFS. 1 Publication
VAR_065986
Natural varianti811 – 8111C → Y in MFS. 1 Publication
VAR_065987
Natural varianti816 – 8161C → R in MFS. 1 Publication
VAR_076025
Natural varianti816 – 8161C → S in MFS. 1 Publication
VAR_017991
Natural varianti828 – 8281F → C in MFS. 1 Publication
VAR_076026
Natural varianti832 – 8321C → Y in MFS. 2 Publications
VAR_023871
Natural varianti853 – 8531C → S in MFS. 1 Publication
VAR_065988
Natural varianti861 – 28712011Missing in MFS. 2 Publications
VAR_076027Add
BLAST
Natural varianti862 – 8621C → R in MFS. 1 Publication
VAR_002294
Natural varianti880 – 8801G → S in MFS. 3 Publications
VAR_076028
Natural varianti882 – 8821A → V in MFS and ECTOL1. 1 Publication
VAR_076029
Natural varianti884 – 8841G → E in MFS. 1 Publication
VAR_076030
Natural varianti890 – 8901C → G in MFS. 1 Publication
VAR_023872
Natural varianti890 – 8901C → R in MFS. 1 Publication
VAR_017992
Natural varianti908 – 9081C → R in MFS. 1 Publication
VAR_017993
Natural varianti908 – 9081C → Y in MFS. 1 Publication
VAR_076031
Natural varianti910 – 9101D → H in MFS. 1 Publication
VAR_076032
Natural varianti913 – 9131E → G in MFS. 1 Publication
VAR_017994
Natural varianti921 – 28711951Missing in MFS. 1 Publication
VAR_076033Add
BLAST
Natural varianti921 – 9211C → G in MFS. 1 Publication
VAR_017995
Natural varianti926 – 9261C → R in MFS; enhances proteolytic degradation. 2 Publications
VAR_002295
Natural varianti926 – 9261C → Y in MFS. 1 Publication
VAR_065989
Natural varianti974 – 9741R → C in MFS. 1 Publication
VAR_076037
Natural varianti976 – 9761R → H in MFS. 1 Publication
VAR_076038
Natural varianti984 – 9841V → I in MFS. 1 Publication
VAR_002296
Natural varianti985 – 9851G → E in MFS; atypical. 1 Publication
Corresponds to variant rs137854477 [ dbSNP | Ensembl ].
VAR_018319
Natural varianti985 – 9851G → R in MFS. 2 Publications
VAR_017996
Natural varianti994 – 28711878Missing in MFS. 1 Publication
VAR_076040Add
BLAST
Natural varianti996 – 9961C → R in MFS. 1 Publication
Corresponds to variant rs140592 [ dbSNP | Ensembl ].
VAR_002297
Natural varianti1008 – 10081C → Y in MFS. 1 Publication
VAR_076041
Natural varianti1013 – 10131G → R in MFS; severe neonatal. 4 Publications
Corresponds to variant rs140593 [ dbSNP | Ensembl ].
VAR_002298
Natural varianti1023 – 10231K → N in MFS; severe neonatal. 1 Publication
VAR_002299
Natural varianti1032 – 10321C → Y in MFS; severe neonatal. 1 Publication
VAR_076044
Natural varianti1042 – 10421G → S in MFS. 1 Publication
VAR_076045
Natural varianti1043 – 10431K → R in MFS. 1 Publication
Corresponds to variant rs137854472 [ dbSNP | Ensembl ].
VAR_002300
Natural varianti1044 – 10441C → Y in MFS. 1 Publication
VAR_017997
Natural varianti1048 – 10481I → T in MFS; severe neonatal. 2 Publications
VAR_002301
Natural varianti1048 – 10481Missing in MFS. 1 Publication
VAR_002302
Natural varianti1053 – 10531C → R in MFS. 1 Publication
VAR_002303
Natural varianti1055 – 10551C → G in MFS; neonatal. 2 Publications
VAR_002304
Natural varianti1055 – 10551C → W in MFS. 1 Publication
VAR_017998
Natural varianti1055 – 10551C → Y in MFS. 1 Publication
VAR_017999
Natural varianti1058 – 10581G → D in MFS. 1 Publication
VAR_023873
Natural varianti1058 – 10581G → GC in MFS. 1 Publication
VAR_002305
Natural varianti1068 – 10681C → G in MFS; neonatal form. 1 Publication
VAR_064503
Natural varianti1072 – 10721D → G in MFS. 1 Publication
VAR_002306
Natural varianti1073 – 10731E → K in MFS; severe neonatal. 2 Publications
Corresponds to variant rs137854478 [ dbSNP | Ensembl ].
VAR_002307
Natural varianti1074 – 10741C → R in MFS; severe neonatal. 2 Publications
Corresponds to variant rs137854465 [ dbSNP | Ensembl ].
VAR_002308
Natural varianti1074 – 10741C → Y in MFS; severe neonatal. 1 Publication
VAR_076046
Natural varianti1086 – 10861C → W in MFS. 1 Publication
VAR_002309
Natural varianti1088 – 10881N → I in MFS; severe neonatal. 1 Publication
VAR_076048
Natural varianti1090 – 10901P → S in MFS. 1 Publication
VAR_065990
Natural varianti1101 – 11011Y → C in MFS. 3 Publications
VAR_018000
Natural varianti1113 – 11131D → V in MFS. 1 Publication
VAR_023874
Natural varianti1117 – 11171C → G in MFS. 1 Publication
VAR_002310
Natural varianti1117 – 11171C → R in MFS. 1 Publication
VAR_076049
Natural varianti1117 – 11171C → Y in MFS. 2 Publications
Corresponds to variant rs137854470 [ dbSNP | Ensembl ].
VAR_002311
Natural varianti1125 – 28711747Missing in MFS. 2 Publications
VAR_076050Add
BLAST
Natural varianti1127 – 11271G → S in MFS; mild form. 1 Publication
Corresponds to variant rs137854468 [ dbSNP | Ensembl ].
VAR_002312
Natural varianti1129 – 11291C → Y in MFS. 1 Publication
Corresponds to variant rs137854482 [ dbSNP | Ensembl ].
VAR_010777
Natural varianti1130 – 11301H → P in MFS. 1 Publication
VAR_076051
Natural varianti1136 – 28711736Missing in MFS. 1 Publication
VAR_076052Add
BLAST
Natural varianti1137 – 11371R → P in MFS. 2 Publications
Corresponds to variant rs137854456 [ dbSNP | Ensembl ].
VAR_002314
Natural varianti1138 – 11381C → Y in MFS. 1 Publication
VAR_076053
Natural varianti1140 – 28711732Missing in MFS. 1 Publication
VAR_076054Add
BLAST
Natural varianti1153 – 11531C → S in MFS. 1 Publication
VAR_023875
Natural varianti1153 – 11531C → Y in MFS; severe. 2 Publications
Corresponds to variant rs140599 [ dbSNP | Ensembl ].
VAR_002316
Natural varianti1155 – 11551D → N in MFS and ECTOL1. 2 Publications
VAR_002317
Natural varianti1158 – 11581E → G in MFS. 1 Publication
VAR_076055
Natural varianti1170 – 11701R → H in MFS. 3 Publications
Corresponds to variant rs137854475 [ dbSNP | Ensembl ].
VAR_002318
Natural varianti1171 – 11711C → W in MFS. 1 Publication
VAR_002319
Natural varianti1173 – 11731N → K in MFS. 1 Publication
VAR_002320
Natural varianti1182 – 11821C → W in MFS. 1 Publication
VAR_076056
Natural varianti1185 – 11851G → D in MFS. 1 Publication
VAR_065991
Natural varianti1199 – 11991D → A in MFS. 1 Publication
VAR_076057
Natural varianti1200 – 12001E → G in MFS. 1 Publication
VAR_018002
Natural varianti1211 – 12111Missing in MFS. 1 Publication
VAR_023876
Natural varianti1219 – 12191Y → C in MFS. 1 Publication
VAR_023877
Natural varianti1223 – 12231C → R in MFS; severe neonatal. 1 Publication
VAR_076058
Natural varianti1223 – 12231C → Y in MFS; also found in a patient with Shprintzen-Goldberg craniosynostosis syndrome. 2 Publications
Corresponds to variant rs137854469 [ dbSNP | Ensembl ].
VAR_002321
Natural varianti1242 – 12421C → Y in MFS. 1 Publication
Corresponds to variant rs137854471 [ dbSNP | Ensembl ].
VAR_002322
Natural varianti1249 – 12491C → R in MFS. 1 Publication
VAR_076059
Natural varianti1249 – 12491C → S in MFS. 1 Publication
Corresponds to variant rs137854458 [ dbSNP | Ensembl ].
VAR_002323
Natural varianti1261 – 12611Y → C in MFS. 1 Publication
VAR_010778
Natural varianti1261 – 12611Y → D in MFS. 1 Publication
VAR_023878
Natural varianti1265 – 12651C → R in MFS. 1 Publication
Corresponds to variant rs137854474 [ dbSNP | Ensembl ].
VAR_018320
Natural varianti1265 – 12651C → Y in MFS. 1 Publication
VAR_076060
Natural varianti1278 – 12781C → S in MFS. 1 Publication
VAR_023879
Natural varianti1284 – 12841C → G in MFS. 1 Publication
VAR_023880
Natural varianti1284 – 12841C → Y in MFS. 1 Publication
VAR_065992
Natural varianti1307 – 13071C → Y in MFS; severe neonatal. 1 Publication
VAR_076061
Natural varianti1320 – 13201C → R in MFS. 1 Publication
VAR_076062
Natural varianti1325 – 13251E → Q in MFS. 1 Publication
VAR_018003
Natural varianti1326 – 13261C → R in MFS; severe neonatal. 1 Publication
VAR_076063
Natural varianti1333 – 13331C → S in MFS. 1 Publication
VAR_023881
Natural varianti1337 – 13371A → P in MFS; neonatal. 1 Publication
VAR_018004
Natural varianti1339 – 13391C → Y in MFS. 1 Publication
VAR_018005
Natural varianti1346 – 13461F → L in MFS. 1 Publication
VAR_076064
Natural varianti1350 – 13501C → F in MFS. 1 Publication
VAR_065993
Natural varianti1366 – 13661E → K in MFS. 2 Publications
VAR_018006
Natural varianti1374 – 13741C → S in MFS. 1 Publication
VAR_018007
Natural varianti1382 – 13821N → S in MFS. 1 Publication
VAR_002324
Natural varianti1389 – 13891C → R in MFS. 1 Publication
VAR_018008
Natural varianti1394 – 13963Missing in MFS. 1 Publication
VAR_018009
Natural varianti1401 – 14011T → A in MFS. 1 Publication
VAR_065994
Natural varianti1402 – 14021C → R in MFS. 1 Publication
VAR_023882
Natural varianti1402 – 14021C → Y in MFS. 1 Publication
VAR_076065
Natural varianti1404 – 14041D → Y in MFS. 1 Publication
VAR_002325
Natural varianti1424 – 14241P → A in MFS. 2 Publications
VAR_018010
Natural varianti1424 – 14241P → S in MFS. 1 Publication
VAR_023883
Natural varianti1427 – 14271Y → D in MFS. 1 Publication
VAR_076067
Natural varianti1429 – 14291C → S in MFS. 1 Publication
VAR_018011
Natural varianti1431 – 14311C → W in MFS. 1 Publication
Corresponds to variant rs112375043 [ dbSNP | Ensembl ].
VAR_065995
Natural varianti1431 – 14311C → Y in MFS. 1 Publication
VAR_065996
Natural varianti1475 – 14751G → E in MFS. 1 Publication
VAR_023884
Natural varianti1475 – 14751G → S in MFS. 1 Publication
VAR_023885
Natural varianti1485 – 14851C → R in MFS. 1 Publication