FBLN1
entrez
2192
canonical
uniprot
P23142
canonical
ensembl
ENSG00000077942
resolver
ensp
ENSP00000262722
resolver
ensp
ENSP00000331544
resolver
ensp
ENSP00000342212
resolver
ensp
ENSP00000393812
resolver
genesymbol
FBLN1
resolver
hgnc
HGNC:3600
resolver
uniprot
A0A8S0LWY1
resolver
uniprot
B0QY42
resolver
uniprot
B1AHL4
resolver
uniprot
P23143
resolver
uniprot
P23144
resolver
uniprot
P37888
resolver
uniprot
Q5TIC4
resolver
uniprot
Q8NBH6
resolver
uniprot
Q8TBH8
resolver
uniprot
Q9HBQ5
resolver
uniprot
Q9UC21
resolver
uniprot
Q9UGR4
resolver
uniprot
Q9UH41
resolver
uniprot_entry
A0A8S0LWY1_HUMAN
resolver
uniprot_entry
FBLN1_HUMAN
resolver
uniprot_entry
Q8NBH6_HUMAN
resolver
uniprot_sec
B0QY42
resolver
uniprot_sec
B1AHL4
resolver
uniprot_sec
P23143
resolver
uniprot_sec
P23144
resolver
uniprot_sec
P37888
resolver
uniprot_sec
Q5TIC4
resolver
uniprot_sec
Q8TBH8
resolver
uniprot_sec
Q9HBQ5
resolver
uniprot_sec
Q9UC21
resolver
uniprot_sec
Q9UGR4
resolver
uniprot_sec
Q9UH41
resolver
amino_acid_sequence
MERAAPSRRVPLPLLLLGGLALLAAGVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVFQACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATLQQEKTDTVRCIKSCRPNDVTCVFDPVHTISHTVISLPTFREFTRPEEIIFLRAITPPHPASQANIIFDITEGNLRDSFDIIKRYMDGMTVGVVRQVRPIVGPFHAVLKLEMNYVVGGVVSHRNVVNVHIFVSEYWF
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving FBLN1 is found in a complex type of synpolydactyly referred to as 3/3-prime/4 synpolydactyly associated with metacarpal and metatarsal synostoses. Reciprocal translocation t(12;22)(p11.2;q13.3) with RASSF8. Fibroblasts derived from a patient with synpolydactyly displayed alterations in the level of isoform D splice variant incorporated into the ECM and secreted into the conditioned culture medium. By contrast, the expression of isoform C was not perturbed in the patients fibroblasts. Furthermore, no aberrant polypeptides were detected in extracts of cultured patients fibroblasts. The translocation t(12;22) may result in haploinsufficiency of the isoform D splice variant, which could lead to the observed limb malformation. {ECO:0000269|PubMed:11836357}.; DISEASE: Note=Elevated expression and altered processing of FBLN1 protein is associated with human breast cancer. {ECO:0000269|PubMed:12644824}.
uniprot
proteins
function
FUNCTION: Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a significant role in modulating the neurotrophic activities of APP, particularly soluble APP. {ECO:0000269|PubMed:11792823, ECO:0000269|PubMed:9393974, ECO:0000269|PubMed:9466671}.
uniprot
proteins
mass_dalton
77214
uniprot
proteins
protein_family
Fibulin family
uniprot
proteins
pubmed
10318851
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
11238726
uniprot
proteins
pubmed
11792823
uniprot
proteins
pubmed
11829738
uniprot
proteins
pubmed
11836357
uniprot
proteins
pubmed
11850827
uniprot
proteins
pubmed
12200142
uniprot
proteins
pubmed
12644824
uniprot
proteins
pubmed
1400330
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
2269669
uniprot
proteins
pubmed
24084572
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2527614
uniprot
proteins
pubmed
7534784
uniprot
proteins
pubmed
7642629
uniprot
proteins
pubmed
8552629
uniprot
proteins
pubmed
8737292
uniprot
proteins
pubmed
9106159
uniprot
proteins
pubmed
9278415
uniprot
proteins
pubmed
9393974
uniprot
proteins
pubmed
9466671
uniprot
proteins
pubmed
9811350
uniprot
proteins
pubmed
9927660
uniprot
proteins
sequence_length
703
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
uniprot
proteins