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FBN1

CANCER ATLAS

Gene description

 Fibrillin 1

Protein class

 Disease related genes, Plasma proteins, Predicted secreted proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA017759
HPA021057
CAB002670
CAB058696
CAB068188

GENE INFORMATION

Gene name

 FBN1 (HGNC Symbol)

Synonyms

 FBN, MASS, MFS1, OCTD, SGS, WMS

Description

 Fibrillin 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate a mature extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, and Shprintzen-Goldberg syndrome. [provided by RefSeq, Oct 2015]

Chromosome

 15

Cytoband

 q21.1

Chromosome location (bp)

 48408306 - 48645849

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000166147 (version 83.38)

Entrez gene

 2200

UniProt

 P35555 (UniProt - Evidence at protein level)

neXtProt

 NX_P35555

Antibodypedia

 FBN1 antibodies

PROTEIN BROWSER
FBN1-001
FBN1-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
FBN1-001
ENSP00000325527
ENST00000316623
P35555 [Direct mapping]
Fibrillin-1
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0001527 [microfibril]
GO:0001656 [metanephros development]
GO:0001822 [kidney development]
GO:0005178 [integrin binding]
GO:0005201 [extracellular matrix structural constituent]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005578 [proteinaceous extracellular matrix]
GO:0005604 [basement membrane]
GO:0005615 [extracellular space]
GO:0007507 [heart development]
GO:0009653 [anatomical structure morphogenesis]
GO:0022617 [extracellular matrix disassembly]
GO:0030023 [extracellular matrix constituent conferring elasticity]
GO:0030198 [extracellular matrix organization]
GO:0031012 [extracellular matrix]
GO:0032403 [protein complex binding]
GO:0035582 [sequestering of BMP in extracellular matrix]
GO:0035583 [sequestering of TGFbeta in extracellular matrix]
GO:0043010 [camera-type eye development]
GO:0048048 [embryonic eye morphogenesis]
GO:0048050 [post-embryonic eye morphogenesis]
GO:0070062 [extracellular exosome]
GO:0071560 [cellular response to transforming growth factor beta stimulus]
GO:0090287 [regulation of cellular response to growth factor stimulus]
GO:1990314 [cellular response to insulin-like growth factor stimulus]
Show all
 2871 aa
312.3 kDa 		Yes 0
FBN1-002
ENSP00000453901
ENST00000560355
H0YN80 [Direct mapping]
Fibrillin-1
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005201 [extracellular matrix structural constituent]
GO:0005509 [calcium ion binding]
GO:0005578 [proteinaceous extracellular matrix]
GO:0009653 [anatomical structure morphogenesis]
GO:0090287 [regulation of cellular response to growth factor stimulus]
Show all
 55 aa
5.8 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.