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FBN1

GENERAL INFORMATION

Gene name

 FBN1

Gene description

 Fibrillin 1

Protein class

 Disease related genes
Plasma proteins
Predicted secreted proteins

Predicted localization

 Secreted

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (placenta)
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Membranous and cytoplasmic expression in extracellular matrix, stromal cells, smooth muscle cells and decidual cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data. Antibody staining in cells/structures not annotated, view images.

Reliability score

 Supported based on 5 antibodies.
HPA017759 , HPA021057 , CAB002670 , CAB058696 , CAB068188
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (placenta)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

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
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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]
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 2871 aa
312.3 kDa 		Yes 0
FBN1-002
ENSP00000453901
ENST00000560355
H0YN80 [Direct mapping]
Fibrillin-1
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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.