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Aliases for FBLN1 Gene

Aliases for FBLN1 Gene

  • Fibulin 1 2 3
  • Fibulin-1 3
  • FIBL-1 4
  • FIBL1 3
  • FBLN 3

External Ids for FBLN1 Gene

Previous GeneCards Identifiers for FBLN1 Gene

  • GC22P042534
  • GC22P044175
  • GC22P044219
  • GC22P045898
  • GC22P028859

Summaries for FBLN1 Gene

Entrez Gene Summary for FBLN1 Gene

  • Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBLN1 Gene

FBLN1 (Fibulin 1) is a Protein Coding gene. Diseases associated with FBLN1 include synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses and fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome. Among its related pathways are Degradation of the extracellular matrix and Elastic fibre formation. GO annotations related to this gene include calcium ion binding and peptidase activator activity. An important paralog of this gene is LTBP3.

UniProtKB/Swiss-Prot for FBLN1 Gene

  • 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.

Gene Wiki entry for FBLN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBLN1 Gene

Genomics for FBLN1 Gene

Regulatory Elements for FBLN1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FBLN1 Gene

Start:
45,502,238 bp from pter
End:
45,601,135 bp from pter
Size:
98,898 bases
Orientation:
Plus strand

Genomic View for FBLN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FBLN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBLN1 Gene

Proteins for FBLN1 Gene

  • Protein details for FBLN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23142-FBLN1_HUMAN
    Recommended name:
    Fibulin-1
    Protein Accession:
    P23142
    Secondary Accessions:
    • B0QY42
    • B1AHL4
    • P23143
    • P23144
    • P37888
    • Q5TIC4
    • Q8TBH8
    • Q9HBQ5
    • Q9UC21
    • Q9UGR4
    • Q9UH41

    Protein attributes for FBLN1 Gene

    Size:
    703 amino acids
    Molecular mass:
    77214 Da
    Quaternary structure:
    • Homomultimerizes 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).
    SequenceCaution:
    • Sequence=AAG17241.1; Type=Frameshift; Positions=116, 619, 639; Evidence={ECO:0000305};

    Alternative splice isoforms for FBLN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBLN1 Gene

Proteomics data for FBLN1 Gene at MOPED

Post-translational modifications for FBLN1 Gene

  • Glycosylation at Asn98, Asn535, and Asn539
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for FBLN1 Gene

Domains for FBLN1 Gene

Gene Families for FBLN1 Gene

HGNC:

Suggested Antigen Peptide Sequences for FBLN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P23142

UniProtKB/Swiss-Prot:

FBLN1_HUMAN :
  • P23142
Domain:
  • Contains 3 anaphylatoxin-like domains.
  • Contains 9 EGF-like domains.
Family:
  • Belongs to the fibulin family.
genes like me logo Genes that share domains with FBLN1: view

Function for FBLN1 Gene

Molecular function for FBLN1 Gene

GENATLAS Biochemistry: fibulin 1,calcium binding,extracellular matrix protein (90-100kDa),prominently expressed in endocardium during development
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: Expression increased by estrogen in ovarian cancer cells.

Gene Ontology (GO) - Molecular Function for FBLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 2269669
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
GO:0016504 peptidase activator activity IEA --
genes like me logo Genes that share ontologies with FBLN1: view
genes like me logo Genes that share phenotypes with FBLN1: view

Animal Models for FBLN1 Gene

MGI Knock Outs for FBLN1:

Animal Model Products

miRNA for FBLN1 Gene

miRTarBase miRNAs that target FBLN1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FBLN1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FBLN1 Gene

Localization for FBLN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBLN1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FBLN1 Gene COMPARTMENTS Subcellular localization image for FBLN1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FBLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix TAS 2269669
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IDA 20551380
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with FBLN1: view

Pathways for FBLN1 Gene

genes like me logo Genes that share pathways with FBLN1: view

Pathways by source for FBLN1 Gene

Gene Ontology (GO) - Biological Process for FBLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007566 embryo implantation IEA --
GO:0010952 positive regulation of peptidase activity IEA --
GO:0016032 viral process IEA --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with FBLN1: view

Compounds for FBLN1 Gene

(8) Novoseek inferred chemical compound relationships for FBLN1 Gene

Compound -log(P) Hits PubMed IDs
neurocan 72.1 1
matrigel 31.1 2
estrogen 28.2 8
estradiol 28.1 7
fibrinogen 24.9 21
genes like me logo Genes that share compounds with FBLN1: view

Transcripts for FBLN1 Gene

Unigene Clusters for FBLN1 Gene

Fibulin 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FBLN1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBLN1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
SP1: - - - - -
SP2: - - - - - - -
SP3: - - -
SP4: - - - -
SP5: - - - - -
SP6: - -
SP7:
SP8:
SP9:

ExUns: 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for FBLN1 Gene

GeneLoc Exon Structure for
FBLN1
ECgene alternative splicing isoforms for
FBLN1

Expression for FBLN1 Gene

mRNA expression in normal human tissues for FBLN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBLN1 Gene

This gene is overexpressed in Vagina (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FBLN1 Gene

SOURCE GeneReport for Unigene cluster for FBLN1 Gene Hs.24601

mRNA Expression by UniProt/SwissProt for FBLN1 Gene

P23142-FBLN1_HUMAN
Tissue specificity: Isoform A and isoform B are only expressed in placenta. Isoform C and isoform D are expressed in a variety of tissues and cultured cells.
genes like me logo Genes that share expressions with FBLN1: view

In Situ Assay Products

Orthologs for FBLN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBLN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBLN1 35
  • 98 (n)
  • 97.9 (a)
FBLN1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBLN1 35
  • 89.14 (n)
  • 89.47 (a)
FBLN1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBLN1 35
  • 87.87 (n)
  • 89.5 (a)
FBLN1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbln1 35
  • 84.71 (n)
  • 85.47 (a)
Fbln1 16
Fbln1 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBLN1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBLN1 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbln1 35
  • 85.61 (n)
  • 86.75 (a)
chicken
(Gallus gallus)
Aves FBLN1 35
  • 72.16 (n)
  • 74.48 (a)
FBLN1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBLN1 36
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15054 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5023 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10824 35
zebrafish
(Danio rerio)
Actinopterygii fbln1 35
  • 65.02 (n)
  • 60.25 (a)
fbln1 36
  • 60 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea fbl-1 35
  • 44.17 (n)
  • 37.97 (a)
him-4 36
  • 2 (a)
OneToMany
Species with no ortholog for FBLN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FBLN1 Gene

ENSEMBL:
Gene Tree for FBLN1 (if available)
TreeFam:
Gene Tree for FBLN1 (if available)

Paralogs for FBLN1 Gene

genes like me logo Genes that share paralogs with FBLN1: view

Variants for FBLN1 Gene

Sequence variations from dbSNP and Humsavar for FBLN1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs1118 -- 45,565,333(+) AGCTG(C/T)ACCTG utr-variant-3-prime, intron-variant
rs1119 -- 45,565,404(+) TGAAT(C/G)TGCCT utr-variant-3-prime, intron-variant
rs2731 -- 45,558,398(+) aaaag(A/G)agagt intron-variant, utr-variant-3-prime
rs4415 -- 45,576,000(+) CAGCC(A/G)CGAGG intron-variant
rs4416 -- 45,576,137(+) GAATA(A/G)CGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBLN1 Gene

Variant ID Type Subtype PubMed ID
dgv1411e1 CNV Complex 17122850
nsv9921 CNV Gain+Loss 18304495
esv34218 CNV Gain 17911159
nsv834221 CNV Loss 17160897
nsv915295 CNV Loss 21882294
nsv915296 CNV Loss 21882294
nsv829280 CNV Loss 20364138
nsv527304 CNV Loss 19592680
esv2724404 CNV Deletion 23290073
nsv191287 CNV Loss 16902084
esv2595833 CNV Insertion 19546169
esv2724405 CNV Deletion 23290073
esv2814 CNV Deletion 18987735
nsv191416 CNV Loss 16902084
nsv915297 CNV Loss 21882294
nsv471211 CNV Loss 18288195
esv2724407 CNV Deletion 23290073
esv2368023 CNV Deletion 18987734
esv4701 CNV Deletion 18987735
esv1005230 CNV Gain 20482838
esv2724408 CNV Deletion 23290073
nsv522106 CNV Loss 19592680
esv2724409 CNV Deletion 23290073

Relevant External Links for FBLN1 Gene

HapMap Linkage Disequilibrium report
FBLN1
Human Gene Mutation Database (HGMD)
FBLN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBLN1 Gene

Disorders for FBLN1 Gene

(1) OMIM Diseases for FBLN1 Gene (135820)

UniProtKB/Swiss-Prot

FBLN1_HUMAN
  • 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.
  • Note=Elevated expression and altered processing of FBLN1 protein is associated with human breast cancer.

(1) University of Copenhagen DISEASES for FBLN1 Gene

(8) Novoseek inferred disease relationships for FBLN1 Gene

Disease -log(P) Hits PubMed IDs
ovarian cancer 34.7 7
breast carcinoma 28.7 5
breast cancer 23 16
cysts 9.35 1
metastasis 7.64 1

Relevant External Links for FBLN1

Genetic Association Database (GAD)
FBLN1
Human Genome Epidemiology (HuGE) Navigator
FBLN1
genes like me logo Genes that share disorders with FBLN1: view

Publications for FBLN1 Gene

  1. The association of human fibulin-1 with elastic fibers: an immunohistological, ultrastructural, and RNA study. (PMID: 7534784) Roark E.F. … Argraves W.S. (J. Histochem. Cytochem. 1995) 3 4 23
  2. The interaction of fibulin-1 with fibrinogen. A potential role in hemostasis and thrombosis. (PMID: 7642629) Tran H. … Argraves W.S. (J. Biol. Chem. 1995) 3 4 23
  3. Estrogens increase the expression of fibulin-1, an extracellular matrix protein secreted by human ovarian cancer cells. (PMID: 8552629) Clinton G.M. … Rochefort H. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 23
  4. The extracellular matrix proteins fibulin-1 and fibulin-2 in the early human embryo. (PMID: 8737292) Miosge N. … Herken R. (Histochem. J. 1996) 3 4 23
  5. Human fibulin-1D: molecular cloning, expression and similarity with S1-5 protein, a new member of the fibulin gene family. (PMID: 9106159) Tran H. … Argraves W.S. (Matrix Biol. 1997) 3 4 23

Products for FBLN1 Gene

Sources for FBLN1 Gene

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