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MGP001034

UniProt Annotations

Entry Information
Gene Namefibulin 1
Protein EntryFBLN1_HUMAN
UniProt IDP23142
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=D; IsoId=P23142-1; Sequence=Displayed; Name=A; IsoId=P23142-2; Sequence=VSP_001383; Name=B; IsoId=P23142-3; Sequence=VSP_001384; Name=C; IsoId=P23142-4; Sequence=VSP_001385; Note=Ref.4 (AAG17241) sequence is in conflict in positions: 650:E->K, 662:L->F, 680:SAE->FAK. {ECO:0000305};
Developmental StageWidely expressed during embryonic development. Prominent in the matrix of the leptomeningeal anlage, in basement membranes of the neuroepithelium and the perineurium of peripheral nerves. In embryos of gestational week (gw) 4, staining was observed in the early mesenchymal bone anlagen. In gw 6.5 and 8, all perichondrial structures showed expression but the chondrocytes themselves showed no staining. In gw 10, expression is prominent in the interterritorial matrix surrounding the hypertrophic chondrocytes. {ECO:0000269|PubMed:8737292}.
DiseaseNote=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.
DiseaseNote=Elevated expression and altered processing of FBLN1 protein is associated with human breast cancer.
FunctionIncorporated 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}.
InductionExpression increased by estrogen in ovarian cancer cells. {ECO:0000269|PubMed:11850827, ECO:0000269|PubMed:8552629, ECO:0000269|PubMed:9811350}.
Sequence CautionSequence=AAG17241.1; Type=Frameshift; Positions=116, 619, 639; Evidence={ECO:0000305};
SimilarityBelongs to the fibulin family. {ECO:0000305}.
SimilarityContains 3 anaphylatoxin-like domains. {ECO:0000255|PROSITE-ProRule:PRU00022}.
SimilarityContains 9 EGF-like domains. {ECO:0000255|PROSITE- ProRule:PRU00076}.
Subcellular LocationSecreted, extracellular space, extracellular matrix.
SubunitHomomultimerizes and interacts with various extracellular matrix components such as FN1, LAMA1, LAMA2, NID, ACAN, CSPG2 and type IV collagen. Interacts also with APP, NOV, FGB and HPV type 16, HPV type 18, HPV type 31 and BPV type 1 E6 proteins. Interacts with FBLN7 (By similarity). {ECO:0000250}.
Tissue SpecificityIsoform A and isoform B are only expressed in placenta. Isoform C and isoform D are expressed in a variety of tissues and cultured cells. {ECO:0000269|PubMed:9106159}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FBLN1ID44462ch22q13.html";
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