Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Fbn1. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm 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, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Fbn1
  • is located in the following cellular components:
    • extracellular matrix ^[1]
• The gene product of Fbn1 has been shown to bind to the gene products of Thsd4. ^[3]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Fbn1
  • participates in the following biological processes:
    • sequestering of BMP in extracellular matrix ^[2]
    • sequestering of TGFbeta in extracellular matrix ^[2]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Fbn1:
  • participates in the following biological processes:
    • heart development
    • kidney development
    • skeletal system development
  • performs the following molecular functions:
    • calcium ion binding
    • extracellular matrix structural constituent
  • is located in the following cellular components:
    • basement membrane
    • extracellular matrix
    • extracellular space
    • microfibril
    • proteinaceous extracellular matrix

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Fbn1 indicates that it:
  • is located in the following cellular components:
    • extracellular region

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References

1. Lemaire R et al. (2007) Microfibril-associated MAGP-2 stimulates elastic fiber assembly. J Biol Chem, 282:800-8. (PubMed:17099216)
2. Nistala H et al. (2010) Fibrillin-1 and -2 differentially modulate endogenous TGF-beta and BMP bioavailability during bone formation. J Cell Biol, 190:1107-21. (PubMed:20855508)
3. Tsutsui K et al. (2010) ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation. J Biol Chem, 285:4870-82. (PubMed:19940141)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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