Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FBLN1 Gene

Aliases for FBLN1 Gene

  • Fibulin 1 2 3 5
  • 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 Elastic fibre formation and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and peptidase activator activity. An important paralog of this gene is FBLN2.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBLN1 Gene

Genomics for FBLN1 Gene

Regulatory Elements for FBLN1 Gene

Enhancers for FBLN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G045476 1 Ensembl ENCODE 12.3 -24.3 -24293 2.4 FOXA2 SAP130 ZMYM3 CEBPG ZIC2 THRB RFX5 TEAD3 ZNF664 ZFHX2 FBLN1 ENSG00000273243 PKDREJ GC22P045497 ENSG00000232363
GH22G045528 0.9 ENCODE dbSUPER 12.9 +27.5 27528 2.1 SCRT1 GLIS2 ZFHX2 BHLHE40 ZNF10 FOS ZNF423 EGR2 FBLN1 GC22P045526 GC22M045550
GH22G045527 0.8 ENCODE dbSUPER 12.9 +25.8 25848 0.5 ZKSCAN8 ZNF341 ZNF10 ZIC2 FBLN1 GC22P045526 GC22M045550
GH22G045475 0.6 ENCODE 12.3 -26.3 -26318 1.4 GLIS2 PRDM6 CEBPA CEBPB CEBPG MYC FBLN1 GC22P045497 ENSG00000232363
GH22G045449 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.9 -49.2 -49222 6.3 FEZF1 ZIC2 ZNF664 FOS MIER1 GFI1B CEBPB REST MIER2 ZEB2 LINC01589 RIBC2 FBLN1 TTC38 ENSG00000232363 GC22P045497
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBLN1 on UCSC Golden Path with GeneCards custom track

Promoters for FBLN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000147213 1462 2601 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF48 ETS1 GLIS2 KLF7 ZNF202

Genomic Location for FBLN1 Gene

Chromosome:
22
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

Genes around FBLN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBLN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for FBLN1 Gene

  • Glycosylation at isoforms=2, 3, 498, isoforms=2, 3, 4535, and isoforms=2, 3, 4539
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for FBLN1 Gene

Domains & Families for FBLN1 Gene

Gene Families for FBLN1 Gene

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 :
  • Belongs to the fibulin family.
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:0001968 fibronectin binding IPI 1400330
GO:0005201 extracellular matrix structural constituent IDA 2269669
GO:0005509 calcium ion binding IEA,IDA 9278415
GO:0008022 protein C-terminus binding IPI 11238726
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

Human Phenotype Ontology for FBLN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FBLN1 Gene

MGI Knock Outs for FBLN1:

Animal Model Products

miRNA for FBLN1 Gene

miRTarBase miRNAs that target FBLN1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBLN1 gene
Compartment Confidence
extracellular 5
cytoskeleton 3
cytosol 3
plasma membrane 2
lysosome 1

Gene Ontology (GO) - Cellular Components for FBLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005577 colocalizes_with fibrinogen complex IDA 7642629
GO:0005578 proteinaceous extracellular matrix IEA,IDA 2269669
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IDA 2269669
genes like me logo Genes that share ontologies with FBLN1: view

Pathways & Interactions 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:0001933 negative regulation of protein phosphorylation IDA 11792823
GO:0007162 negative regulation of cell adhesion IDA 11792823
GO:0007229 NOT integrin-mediated signaling pathway IDA 11792823
GO:0007566 embryo implantation IEA --
GO:0010952 positive regulation of peptidase activity IEA --
genes like me logo Genes that share ontologies with FBLN1: view

No data available for SIGNOR curated interactions for FBLN1 Gene

Drugs & Compounds for FBLN1 Gene

(5) Drugs for FBLN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for FBLN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FBLN1: view

Transcripts for FBLN1 Gene

Unigene Clusters for FBLN1 Gene

Fibulin 1:
Representative Sequences:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.2).

Protein differential expression in normal tissues from HIPED for FBLN1 Gene

This gene is overexpressed in Urinary Bladder (9.8), Uterus (7.6), Prostate (7.5), and Cerebrospinal fluid (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBLN1 Gene



Protein tissue co-expression partners for FBLN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FBLN1 Gene:

FBLN1

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.

Evidence on tissue expression from TISSUES for FBLN1 Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Intestine(3.8)
  • Lung(3.2)
  • Eye(3)
  • Heart(2.9)
  • Muscle(2.8)
  • Gall bladder(2.6)
  • Skin(2.6)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FBLN1 Gene

Germ Layers:
  • mesoderm
Systems:
  • skeleton
Organs:
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
genes like me logo Genes that share expression patterns with FBLN1: view

Primer 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 34 35
  • 98 (n)
cow
(Bos Taurus)
Mammalia FBLN1 34 35
  • 89.14 (n)
dog
(Canis familiaris)
Mammalia FBLN1 34 35
  • 87.87 (n)
rat
(Rattus norvegicus)
Mammalia Fbln1 34
  • 85.61 (n)
mouse
(Mus musculus)
Mammalia Fbln1 34 16 35
  • 84.71 (n)
oppossum
(Monodelphis domestica)
Mammalia FBLN1 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBLN1 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBLN1 34 35
  • 72.16 (n)
lizard
(Anolis carolinensis)
Reptilia FBLN1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5023 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15054 34
zebrafish
(Danio rerio)
Actinopterygii fbln1 34 35
  • 65.02 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10824 34
worm
(Caenorhabditis elegans)
Secernentea fbl-1 34
  • 44.17 (n)
him-4 35
  • 2 (a)
OneToMany
Species where no ortholog for FBLN1 was found in the sources mined by GeneCards:
  • 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

Variants for FBLN1 Gene

Sequence variations from dbSNP and Humsavar for FBLN1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs397509432 Pathogenic 45,542,278(+) GATGT(G/T)TGTCG reference, missense
rs142798380 Likely benign 45,547,213(+) CGGAC(A/G)CCCCT intron-variant
rs559662894 Likely benign 45,503,057(+) CTGGC(A/G)GCCGG reference, synonymous-codon
rs143377110 Uncertain significance 45,577,061(+) CCTGC(A/G/T)GGACT reference, missense
rs147528917 Uncertain significance 45,542,162(+) GTGGA(C/T)GAGTG reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv1327e212 CNV loss 25503493
dgv4587n100 CNV gain 25217958
esv1005230 CNV gain 20482838
esv2368023 CNV deletion 18987734
esv2595833 CNV insertion 19546169
esv2724404 CNV deletion 23290073
esv2724405 CNV deletion 23290073
esv2724407 CNV deletion 23290073
esv2724408 CNV deletion 23290073
esv2724409 CNV deletion 23290073
esv2758843 CNV gain 17122850
esv2814 CNV loss 18987735
esv3384667 CNV duplication 20981092
esv34218 CNV gain 17911159
esv3558247 CNV deletion 23714750
esv3568448 CNV loss 25503493
esv3647921 CNV gain 21293372
esv3647931 CNV gain 21293372
esv4701 CNV loss 18987735
nsv1066204 CNV gain 25217958
nsv1072645 CNV deletion 25765185
nsv1114330 CNV deletion 24896259
nsv1123604 CNV deletion 24896259
nsv1126018 CNV deletion 24896259
nsv1136690 CNV deletion 24896259
nsv1136691 CNV deletion 24896259
nsv1160778 CNV duplication 26073780
nsv191287 CNV deletion 16902084
nsv191416 CNV deletion 16902084
nsv471211 CNV loss 18288195
nsv522106 CNV loss 19592680
nsv527304 CNV loss 19592680
nsv829280 CNV loss 20364138
nsv834221 CNV loss 17160897
nsv955175 CNV deletion 24416366
nsv955481 CNV deletion 24416366
nsv9921 CNV gain+loss 18304495

Variation tolerance for FBLN1 Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.76; 47.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBLN1 Gene

Human Gene Mutation Database (HGMD)
FBLN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBLN1

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

Disorders for FBLN1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for FBLN1 Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses
  • synpolydactyly type 2
fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome
vitreoretinal dystrophy
  • vitreoretinal dystrophies
familial osteochondritis dissecans
  • osteochondritis dissecans, short stature, and early-onset osteoarthritis
synpolydactyly
  • synpolydactyly 1
- elite association - COSMIC cancer census association via MalaCards
Search FBLN1 in MalaCards View complete list of genes associated with diseases

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. {ECO:0000269 PubMed:11836357}.
  • Note=Elevated expression and altered processing of FBLN1 protein is associated with human breast cancer. {ECO:0000269 PubMed:12644824}.

Relevant External Links for FBLN1

Genetic Association Database (GAD)
FBLN1
Human Genome Epidemiology (HuGE) Navigator
FBLN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBLN1
genes like me logo Genes that share disorders with FBLN1: view

No data available for Genatlas for FBLN1 Gene

Publications for FBLN1 Gene

  1. Elevated expression and altered processing of fibulin-1 protein in human breast cancer. (PMID: 12644824) Greene L.M. … Gallagher W.M. (Br. J. Cancer 2003) 3 4 22 64
  2. Structural and functional characterization of the human and mouse fibulin-1 gene promoters: role of Sp1 and Sp3. (PMID: 11829738) Castoldi M. … Chu M.-L. (Biochem. J. 2002) 3 4 22 64
  3. The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. (PMID: 11836357) Debeer P. … Van De Ven W.J.M. (J. Med. Genet. 2002) 3 4 22 64
  4. Estrogen induction and overexpression of fibulin-1C mRNA in ovarian cancer cells. (PMID: 11850827) Moll F. … Pujol P. (Oncogene 2002) 3 4 22 64
  5. Interaction of oncogenic papillomavirus E6 proteins with fibulin-1. (PMID: 12200142) Du M. … Chen J.J. (Biochem. Biophys. Res. Commun. 2002) 3 4 22 64

Products for FBLN1 Gene

Sources for FBLN1 Gene

Content
Loading form....