FBN1

Ab — Antibody evidence. See Protein Localisation. Int — Basement membrane interaction. See BM Ligands.

Entry ID: BMB30684

Protein Localisation

Other Information

Gene

Species	Human (Homo sapiens)
Gene Symbol	FBN1
Gene Size (Bases)	237409
Entrez	2200

Protein

Protein Name	Fibrillin 1
Classification	ECM glycoprotein
Mol. Weight (kD)	312
UniProtKB	P35555
Protein Domains	IPR000742, IPR001881, IPR026823, IPR017878, IPR040872 May not be up to date — see InterPro .

Link to hereProtein Localisation

Localisation Images (0)

Localisation Evidence (4)

Microfibrils at basement membrane zones interact with perlecan via fibrillin-1. PubMed

Found in: Human (Homo sapiens)

Reagents: anti-fibrillin-1 mAb069

Comment: See Figure 2
Human eye development is characterized by coordinated expression of fibrillin isoforms. PubMed

Found in: Human (Homo sapiens)

Reagents: anti-FBN1 rb pAb

Comment: See Figure 2
Compositional differences between infant and adult human corneal basement membranes. PubMed

Found in: Human (Homo sapiens)

Reagents: Anti-Fibrillin Antibody, clone 11C1.3 (MAB1919)

Comment: See Figure 7
Characterization of extracellular matrix components in the limbal epithelial stem cell compartment. PubMed

Found in: Human (Homo sapiens)

Reagents: anti-fibrillin-1 mAb Clone 26

Comment: See Figure 3

Link to hereOther Information

Proteomics

BM Substrates (0)

This list has been manually curated and may not be the most up to date. Further updates may be available on BRENDA.

BM Ligands (28)

Gene
ADAMTS10
AMELX
AMTN
COL5A1
CST3
FBN2
FBN3
FN1
HSPG2
LAMB1
LAMB2
LAMC1
LOXL1
MMP2
SPARCL1
TGFB1
TIMP1
TNC
VCAN
VWA1
ADAM10
EVA1A
GPC3
ITGA5
ITGAV
ITGB1
ITGB3
ITGB6

This list has been manually curated and may not be the most up to date. Further updates may be available on STRING .

Interaction Network Images

Associated Diseases (8)

Acromicric dysplasia HPO

Ectopia lentis, familial HPO

Geleophysic dysplasia 2 HPO

Marfan lipodystrophy syndrome HPO

Marfan syndrome HPO

MASS syndrome HPO

Stiff skin syndrome HPO

Weill-Marchesani syndrome 2 HPO

This list has been manually curated and may not be the most up to date. Further updates may be available on OMIM and HPO .

Link to hereOrthology

Orthologs by Species

Caenorhabditis elegans — 1 ortholog(s) of FBN1

Zebrafish (Danio rerio) — 1 ortholog(s) of FBN1

Mouse (Mus musculus) — 1 ortholog(s) of FBN1

Link to hereSee also

External References

Entrez/2200 UniProtKB/P35555 Publication: A basement membrane discovery pipeline/sciadv.abn2265

If an 'External Reference' link is broken, please contact the bmbase team directly at - bmbase@manchester.ac.uk.