FBN1 (fibrillin 1)

基因基本信息

基因基本信息

symbol:
FBN1
locus group:
protein-coding gene
location:
15q21.1
gene_family:
alias symbol:
MASS|OCTD|SGS
alias name:
Marfan syndrome|asprosin
entrez id:
2200
ensembl gene id:
ENSG00000166147
ucsc gene id:
uc001zwx.3
refseq accession:
NM_000138
hgnc_id:
HGNC:3603
approved reserved:
1987-09-11

基因染色体位置

基因染色体位置

15q21.1

基因简述

基因简述

FBN1基因编码原纤维蛋白-1（fibrillin-1），这是一种重要的细胞外基质糖蛋白，主要参与弹性纤维的形成和维持。原纤维蛋白-1是微纤维的主要组成部分，微纤维为弹性纤维提供支架结构，并在组织中提供弹性和机械支持。FBN1在多个组织中表达，包括主动脉、皮肤、眼睛和骨骼等，对维持这些组织的结构和功能至关重要。FBN1基因突变与马凡综合征（Marfan syndrome）密切相关，这是一种常染色体显性遗传的结缔组织疾病，表现为心血管异常（如主动脉瘤和夹层）、骨骼异常（如长骨过度生长和脊柱侧弯）以及眼部问题（如晶状体脱位）。突变通常导致原纤维蛋白-1功能丧失或结构异常，进而影响微纤维的形成和弹性纤维的完整性，最终导致结缔组织脆弱和功能障碍。FBN1过表达的研究较少，但可能干扰微纤维的正常组装；而表达降低则会导致微纤维数量减少，引发类似马凡综合征的表现。FBN1属于原纤维蛋白基因家族，该家族还包括FBN2和FBN3。这些基因编码的蛋白质结构相似，含有多个钙结合表皮生长因子样（cbEGF）结构域和转化生长因子β（TGF-β）结合蛋白样结构域（TB），共同参与细胞外基质的组织和信号调节。FBN2主要与先天性挛缩性蜘蛛指症（Beals综合征）相关，而FBN3的功能尚不完全清楚。原纤维蛋白家族成员通过调控TGF-β信号通路影响组织发育和稳态，突变常导致结缔组织疾病。FBN1的某些突变还可能与其他疾病如孤立性晶状体脱位或家族性胸主动脉瘤相关。研究FBN1有助于理解结缔组织疾病的机制，并为开发靶向治疗提供基础。

中文English

该基因编码的原纤维蛋白家族的一个成员。所编码的蛋白质是一个大的，细胞外基质糖蛋白充当10-12纳米钙结合微纤维的结构组分。这些微纤维提供了受力遍及全身的弹性和非弹性结缔组织结构支撑。在这个基因的突变与马凡氏综合征，孤立的晶状体异位，常染色体显性遗传威尔 - Marchesani综合征，MASS综合症和Shprintzen - 戈德堡颅缝早闭综合征。 [由RefSeq的，2008年7月提供]

OMIM数据库中对FBN1基因的介绍     Wikipedia数据库中对FBN1基因的介绍

基因序列

基因序列

FBN1基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MRRGRLLEIA LGFTVLLASY TSHGADANLE AGNVKETRAS
41RAKRRGGGGH DALKGPNVCG SRYNAYCCPG WKTLPGGNQC
81 IVPICRHSC GDGFCSRPNM CTCPSGQIAP SCGSRSIQHC
121NIRCMNGGSC SDDHCLCQKG YIGTHCGQPV CESGCLNGGR
161C VAPNRCAC TYGFTGPQCE RDYRTGPCFT VISNQMCQGQ
201LSGIVCTKTL CCATVGRAWG HPCEMCPAQP HPCRRGFIPN
241IR TGACQDV DECQAIPGLC QGGNCINTVG SFECKCPAGH
281KLNEVSQKCE DIDECSTIPG ICEGGECTNT VSSYFCKCPP
321GFY TSPDGT RCIDVRPGYC YTALTNGRCS NQLPQSITKM
361QCCCDAGRCW SPGVTVAPEM CPIRATEDFN KLCSVPMVIP
401GRPE YPPPP LGPIPPVLPV PPGFPPGPQI PVPRPPVEYL
441YPSREPPRVL PVNVTDYCQL VRYLCQNGRC IPTPGSYRCE
481CNKGF QLDL RGECIDVDEC EKNPCAGGEC INNQGSYTCQ
521CRAGYQSTLT RTECRDIDEC LQNGRICNNG RCINTDGSFH
561CVCNAG FHV TRDGKNCEDM DECSIRNMCL NGMCINEDGS
601FKCICKPGFQ LASDGRYCKD INECETPGIC MNGRCVNTDG
641SYRCECF PG LAVGLDGRVC VDTHMRSTCY GGYKRGQCIK
681PLFGAVTKSE CCCASTEYAF GEPCQPCPAQ NSAEYQALCS
721SGPGMTSA G SDINECALDP DICPNGICEN LRGTYKCICN
761SGYEVDSTGK NCVDINECVL NSLLCDNGQC RNTPGSFVCT
801CPKGFIYKP DLKTCEDIDE CESSPCINGV CKNSPGSFIC
841ECSSESTLDP TKTICIETIK GTCWQTVIDG RCEININGAT
881LKSQCCSSLG AAWGSPCTL CQVDPICGKG YSRIKGTQCE
921DIDECEVFPG VCKNGLCVNT RGSFKCQCPS GMTLDATGRI
961CLDIRLETCF L RYEDEECT LPIAGRHRMD ACCCSVGAAW
1001GTEECEECPM RNTPEYEELC PRGPGFATKE ITNGKPFFKD
1041INECKMIPSL CT HGKCRNT IGSFKCRCDS GFALDSEERN
1081CTDIDECRIS PDLCGRGQCV NTPGDFECKC DEGYESGFMM
1121MKNCMDIDEC QRD PLLCRG GVCHNTEGSY RCECPPGHQL
1161SPNISACIDI NECELSAHLC PNGRCVNLIG KYQCACNPGY
1201HSTPDRLFCV DIDE CSIMN GGCETFCTNS EGSYECSCQP
1241GFALMPDQRS CTDIDECEDN PNICDGGQCT NIPGEYRCLC
1281YDGFMASEDM KTCVD VNEC DLNPNICLSG TCENTKGSFI
1321CHCDMGYSGK KGKTGCTDIN ECEIGAHNCG KHAVCTNTAG
1361SFKCSCSPGW IGDGIK CTD LDECSNGTHM CSQHADCKNT
1401MGSYRCLCKE GYTGDGF
结构预测来自 AlphaFold DB（UniProt: P35555），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

FBN1基因的碱基突变：           仅显示部分snp
rs13598       rs25388       rs25389       rs25390       rs25397       rs25398       rs25403       rs25404       rs25436       rs25457       rs25458       rs25459       rs140582       rs140586       rs140587       rs140588       rs140589      

基因表达

基因表达

FBN1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
GAAGGCAGCTTCAAATGTC
57
GCTCATTCGCAAATCTTGG
57
AATATCGAGGATCAGTCTGAGAC
59
TGAAAGCAAAGATGGCTGTC
59
AAGGAAACCAGAGCCAGTC
59
TTTACCCTTTAAGCGCGTC
58
TTTAGCGTCCTACACGAGC
59
CTGGTTTCCTTCACGTTCC
58
CAATATCGAGGATCAGTCTGAG
58
GAAAGCAAAGATGGCTGTC
57
AGGATGTGCAAAGATGAGG
57
AATGAGGTTCTTGCATTCCA
57
TAGGATGTGCAAAGATGAGG
57
ATGAGGTTCTTGCATTCCA
57
TTTAGCGTCCTACACGAGC
59
GTTTCCTTCACGTTCCCAG
58
ATATCGAGGATCAGTCTGAGAC
58
TGAAAGCAAAGATGGCTGTC
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
PARP1
FBN1
Unknown
23860323
SP1
FBN1
Unknown
23860323

基因本体信息

FBN1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

FBN1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005201
F6U495 (UniProtKB)
IEA
GO:0005509
F6U495 (UniProtKB)
IEA
GO:0005578
F6U495 (UniProtKB)
IEA
GO:0005201
H0YN80 (UniProtKB)
IEA
GO:0005509
H0YN80 (UniProtKB)
IEA
GO:0005578
H0YN80 (UniProtKB)
IEA
GO:0005201
H0YND0 (UniProtKB)
IEA
GO:0005509
H0YND0 (UniProtKB)
IEA
GO:0005578
H0YND0 (UniProtKB)
IEA
GO:0001501
P35555 (UniProtKB)
IMP
GO:0001527
P35555 (UniProtKB)
IDA
GO:0001527
P35555 (UniProtKB)
IDA
GO:0001527
P35555 (UniProtKB)
IDA
GO:0001527
P35555 (UniProtKB)
IDA
GO:0001527
P35555 (UniProtKB)
IDA
GO:0001527
P35555 (UniProtKB)
IDA
GO:0001527
P35555 (UniProtKB)
IDA
GO:0001656
P35555 (UniProtKB)
IEA
GO:0005178
P35555 (UniProtKB)
IPI
GO:0005201
P35555 (UniProtKB)
IDA
GO:0005509
P35555 (UniProtKB)
IDA
GO:0005509
P35555 (UniProtKB)
IDA
GO:0005515
P35555 (UniProtKB)
IPI
GO:0005515
P35555 (UniProtKB)
IPI
GO:0005515
P35555 (UniProtKB)
IPI
GO:0005515
P35555 (UniProtKB)
IPI
GO:0005515
P35555 (UniProtKB)
IPI
GO:0005515
P35555 (UniProtKB)
IPI
GO:0005515
P35555 (UniProtKB)
IPI
GO:0005515
P35555 (UniProtKB)
IPI
GO:0005515
P35555 (UniProtKB)
IPI
GO:0005515
P35555 (UniProtKB)
IPI
GO:0005515
P35555 (UniProtKB)
IPI
GO:0005515
P35555 (UniProtKB)
IPI
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005576
P35555 (UniProtKB)
TAS
GO:0005578
P35555 (UniProtKB)
IDA
GO:0005604
P35555 (UniProtKB)
IDA
GO:0005615
P35555 (UniProtKB)
IDA
GO:0005615
P35555 (UniProtKB)
IDA
GO:0007507
P35555 (UniProtKB)
IMP
GO:0022617
P35555 (UniProtKB)
TAS
GO:0030023
P35555 (UniProtKB)
IC
GO:0030198
P35555 (UniProtKB)
TAS
GO:0031012
P35555 (UniProtKB)
IDA
GO:0032403
P35555 (UniProtKB)
IPI
GO:0035582
P35555 (UniProtKB)
ISS
GO:0035583
P35555 (UniProtKB)
ISS
GO:0043010
P35555 (UniProtKB)
IEP
GO:0048048
P35555 (UniProtKB)
IEP
GO:0048050
P35555 (UniProtKB)
IEP
GO:0070062
P35555 (UniProtKB)
IDA
GO:0071560
P35555 (UniProtKB)
IEA
GO:0090287
P35555 (UniProtKB)
IBA
GO:1990314
P35555 (UniProtKB)
IEA
GO:0031012
P35555 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 FBN1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
MINT
Reactome
加载中…
关联基因 作用方式 资源库来源/分值

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Marfan Syndrome 0.722695299 310 243 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT
Stiff Skin Syndrome 0.360271442 1 4 BeFree_CLINVAR_CTD_human_UNIPROT
Ectopia Lentis 0.264231728 37 1 BeFree_CTD_human_GAD_LHGDN_ORPHANET
Weill-Marchesani syndrome 0.242714419 10 0 BeFree_CTD_human_ORPHANET
Acromicric Dysplasia 0.241085767 4 0 BeFree_ORPHANET_UNIPROT
OVERLAP CONNECTIVE TISSUE DISEASE 0.240814326 3 0 BeFree_CLINVAR_CTD_human
Shprintzen-Goldberg syndrome 0.240814326 3 0 BeFree_CTD_human_ORPHANET
GELEOPHYSIC DYSPLASIA 2 0.24 1 4 CLINVAR_UNIPROT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 0.24 3 2 CTD_human_UNIPROT
Weill-Marchesani Syndrome, Autosomal Dominant 0.200271442 1 0 BeFree_CLINVAR_MGD

基因相关文献

基因相关文献

Advances in Marfan Syndrome Care: The Limits of Type B Dissection.
Tchitchinadze M, Milleron O, Eliahou L, Arnoult F, Mihoubi K, Kimbimbi B, Jullien M, Mirmiran A, Wadih S, Jondeau G Ann Thorac Surg IF: 5.3 2026-07-00
DNA methylation-mediated extracellular matrix gene silencing in colorectal cancer.
Menyhart O, Müller D, Győrffy B Semin Oncol IF: 6.8 2026-04-00
The Asp-Encoding Gene FBN1 Mediates Cold Adaptation in Sunite Sheep by Reprogramming Adipocyte Differentiation Towards Thermogenesis.
Meng F, Zi Y, Han C, Zhao M, Wang L, Chang L, Zhou X, Zhou T, Xiao H, Zhang W, Zhang D Cells 2026-02-11
Fibrillin-1 is a novel ligand of the epidermal growth factor receptor promoting mesangial cell activation and glomerulosclerosis.
He M, Xiao L, Liu Z, Min W, Chen J, Hong X, Yang P, Fu H, Li L, Liu Y Kidney Int IF: 21.8 2026-05-00
Rare coding variant architecture and gene discovery from 130,000 sequenced cases of atrial fibrillation.
Jurgens SJ, Enzan N, Dinsmore IR, Choi SH, Luo J, Lipov A, Hartle C, Wang X, Marston NA, Weng LC, Melloni GE, Chalazan B, Gray MP, Pirruccello JP, Diaz A, Chaffin MD, Ornelas-Loredo A, Tang O, Darbar FA, Kany S, Chen Y, von Falkenhausen AS, Morrison AC, Natale A, Tveit A, Geelhoed B, Cade B, Van Wagoner DR, Haase D, Soliman EZ, Davogustto GE, Calkins H, Anderson JL, Brody JA, Barnard J, Hokanson JE, Smith JD, Bis JC, Young K, Johnson LS, Long L, Risch L, Gula LJ, Kwee LC, Kühne M, Preuss M, Gupta N, Nafissi NA, Smith NL, Nilsson PM, van der Harst P, Wells QS, Judy RL, Schnabel RB, Johnson R, Smit RA, Gabriel S, Knight S, Furukawa T, Min YI, Yoneda ZT, Laksman ZW, Alonso A, Psaty BM, Albert CM, Arking DE, Roden DM, Chasman DI, Rader DJ, Conen D, McManus DD, Fatkin D, Boerwinkle E, Marcus GM, Christophersen IE, Smith JG, Roberts JD, Raffield LM, Shoemaker MB, Cho MH, Cutler MJ, Chung MK, Olesen MS, Sinner MF, Sotoodehnia N, Kirchhof P, Loos RJ, Nazarian S, Mohanty S, Damrauer SM, Kaab S, Heckbert SR, Redline S, Shah SH, Tanaka T, Ebana Y, Regeneron Genetics Center, NHLBI Trans-Omics for Precision Medicine TOPMed Consortium, Lubitz SA, Lunetta KL, Benjamin EJ, Rienstra M, Figtree GA, Darbar D, Bezzina CR, Ruff CT, Sabatine MS, Mirshahi T, Ellinor PT Res Sq 2026-05-04
Coexistence of Neurofibromatosis Type 1 and Marfan Syndrome in a 13-Year-Old Boy: A Case Report.
Wieniawski P, Warych M, Kucińska B, Janiec I, Werner B Am J Case Rep 2026-08-04
Integrated cardiac, endocrine, and genetic assessment in adolescent basketball players.
Gregorova K, Plachy L, Chaloupecky V, Iurchenko O, Maliska Maratova K, Kodytkova A, Matoulek M, Lebl J, Tomek V, Sumnik Z, Dusatkova P, Pruhova S Front Endocrinol (Lausanne) IF: 5.7 None
Charting the Phenotypic Landscape of FBN1 Variants in Marfan Syndrome With Ectopia Lentis Through Extreme Phenotype Sampling.
Huo QY, Chen ZX, Shen X, Zhang LJ, Zhang YL, Jia WN, Wang YL, Chen XY, Xiao YB, Jiang YX Invest Ophthalmol Vis Sci IF: 5.5 2026-09-01

基因相关服务

基因相关服务

基因相关评论

基因相关评论

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