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P23142 Proteins Anaphylatoxin-like domain Repeats
Uniprot ID:P23142
Protein name: Fibulin-1
Gene : FBLN1 PP213
Protein Family:Fibulin family
Squence Length : 703
Sequnce
>P23142 704 MERAAPSRRVPLPLLLLGGLALLAAGVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVFQACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATLQQEKTDTVRCIKSCRPNDVTCVFDPVHTISHTVISLPTFREFTRPEEIIFLRAITPPHPASQANIIFDITEGNLRDSFDIIKRYMDGMTVGVVRQVRPIVGPFHAVLKLEMNYVVGGVVSHRNVVNVHIFVSEYWF
Domains
DOMAIN 36 76 Anaphylatoxin-like 1 DOMAIN 77 111 Anaphylatoxin-like 2 DOMAIN 112 144 Anaphylatoxin-like 3 DOMAIN 176 215 EGF-like 1 DOMAIN 216 261 EGF-like 2 calcium-binding DOMAIN 262 307 EGF-like 3 calcium-binding DOMAIN 308 355 EGF-like 4 calcium-binding DOMAIN 356 398 EGF-like 5 calcium-binding DOMAIN 399 440 EGF-like 6 calcium-binding DOMAIN 441 480 EGF-like 7 calcium-binding DOMAIN 481 524 EGF-like 8 calcium-binding DOMAIN 525 578 EGF-like 9 calcium-binding
Anaphylatoxin-like sequence regions
36 - 76 ADGHRMATHQKDCSLPYATESKECRMVQEQCCHSQLEELHC 77 - 111 ATGISLANEQDRCATPHGDNASLEATFVKRCCHCC 112 - 144 LLGRAAQAQGQSCEYSLMVGYQCGQVFQACCVK
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"
Disease
"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 ; DISEASE: Note=Elevated expression and altered processing of FBLN1 protein is associated with human breast cancer"