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 distinct... See more...

Aliases for FBLN1 Gene

Aliases for FBLN1 Gene

  • Fibulin 1 2 3 5
  • Fibulin-1 3 4
  • 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 2 and Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome. Among its related pathways are Degradation of the extracellular matrix and Cell adhesion_Cell-matrix glycoconjugates. Gene Ontology (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 Summary 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

Additional gene information for FBLN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBLN1 Gene

Genomics for FBLN1 Gene

GeneHancer (GH) Regulatory Elements for FBLN1 Gene

Promoters and enhancers for FBLN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J045501 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 504.1 +1.9 1865 5.4 CTCF POLR2G NCOR1 PHF8 ZIC2 ZBTB10 TCF7 ZBTB26 SAP30 KLF7 FBLN1 JA662164 lnc-SMC1B-2 ENSG00000273243 LINC00899 CDPF1 piR-43105-442
GH22J045500 Enhancer 0.2 Ensembl 500.7 -1.5 -1537 0.2 FBLN1 LOC105373066 lnc-SMC1B-2 LINC01589 HSALNG0135951
GH22J045978 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 23.6 +476.6 476597 1.3 CTCF RBAK PHB2 ZIC2 REST ZBTB10 GABPA ZBTB26 KLF7 TSC22D4 WNT7B TRMU CDPF1 FBLN1 ENSG00000273243 LINC00899 ENSG00000235159 KIAA0930 NUP50 ENSG00000273145
GH22J046034 Promoter/Enhancer 1.8 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 11.7 +534.9 534876 4.7 HNRNPK ZBTB40 EP300 CTCF SIN3A NRF1 POLR2G SP1 PHF8 ZIC2 lnc-PPARA-10 LINC00899 CDPF1 FBLN1
GH22J045979 Enhancer 0.9 ENCODE 23.6 +477.5 477538 0.2 PHB2 ZNF639 ZBTB10 TSC22D4 ZNF662 ZNF274 ZNF148 ZNF266 SALL2 KLF9 piR-32214-460 CDPF1 TRMU ENSG00000273243 LINC00899 PHF21B FBLN1 ENSG00000235159 KIAA0930 NUP50
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBLN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBLN1

Top Transcription factor binding sites by QIAGEN in the FBLN1 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alphaA

Genomic Locations for FBLN1 Gene

Genomic Locations for FBLN1 Gene
chr22:45,502,238-45,601,135
(GRCh38/hg38)
Size:
98,898 bases
Orientation:
Plus strand
chr22:45,898,118-45,997,015
(GRCh37/hg19)
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 and FGB. Interacts with FBLN7 (By similarity). Interacts with CCN3 (PubMed:9927660).
    • (Microbial infection) Interacts with human papillomavirus/HPV type 16, 18 and 31 proteins E6.
    SequenceCaution:
    • Sequence=AAG17241.1; Type=Frameshift; 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 Asn98, Asn535, and Asn539
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FBLN1_HUMAN (1244)

No data available for DME Specific Peptides for FBLN1 Gene

Domains & Families for FBLN1 Gene

Gene Families for FBLN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for FBLN1 Gene

Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FBLN1 Gene

GenScript: Design optimal peptide antigens:
  • Fibulin 1 (B1AHM8_HUMAN)
  • Fibulin-1 (FBLN1_HUMAN)

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

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.
GENATLAS Biochemistry:
fibulin 1,calcium binding,extracellular matrix protein (90-100kDa),prominently expressed in endocardium during development

Phenotypes From GWAS Catalog for FBLN1 Gene

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 RCA,IDA 20551380
GO:0005509 calcium ion binding IDA,IEA 9278415
GO:0005515 protein binding IEA --
GO:0008022 protein C-terminus binding IPI 11238726
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

CRISPR Products

miRNA for FBLN1 Gene

miRTarBase miRNAs that target FBLN1

Clone 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
plasma membrane 3
cytoskeleton 3
cytosol 3
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IDA 2269669
GO:0031012 extracellular matrix IDA 2269669
GO:0062023 colocalizes_with collagen-containing extracellular matrix HDA,IEA 20551380
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

1 GeneGo (Thomson Reuters) pathway for FBLN1 Gene
  • Cell adhesion_Cell-matrix glycoconjugates

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

mRNA/cDNA for FBLN1 Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for FBLN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for FBLN1 Gene



Protein tissue co-expression partners for FBLN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.3)
  • Eye(2.9)
  • 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
Regions:
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
genes like me logo Genes that share expression patterns with FBLN1: view

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 31 30
  • 98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FBLN1 31 30
  • 89.14 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBLN1 31 30
  • 87.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbln1 30
  • 85.61 (n)
mouse
(Mus musculus)
Mammalia Fbln1 17 31 30
  • 84.71 (n)
oppossum
(Monodelphis domestica)
Mammalia FBLN1 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBLN1 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBLN1 31 30
  • 72.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBLN1 31
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15054 30
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5023 30
zebrafish
(Danio rerio)
Actinopterygii fbln1 31 30 30
  • 65.02 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10824 30
worm
(Caenorhabditis elegans)
Secernentea fbl-1 30
  • 44.17 (n)
him-4 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FBLN1: view image

Paralogs for FBLN1 Gene

Paralogs for FBLN1 Gene

(14) SIMAP similar genes for FBLN1 Gene using alignment to 12 proteins:

  • FBLN1_HUMAN
  • B1AHL2_HUMAN
  • B1AHL4_HUMAN
  • B1AHM4_HUMAN
  • B1AHM5_HUMAN
  • B1AHM6_HUMAN
  • B1AHM7_HUMAN
  • B1AHM8_HUMAN
  • B1AHM9_HUMAN
  • B1AHN3_HUMAN
  • F8W7M9_HUMAN
  • H7C1M6_HUMAN
genes like me logo Genes that share paralogs with FBLN1: view

Variants for FBLN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBLN1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
593780 Uncertain Significance: not provided 45,542,170(+) C/T MISSENSE_VARIANT
597782 Benign: not specified 45,600,418(+) A/G MISSENSE_VARIANT
598401 Uncertain Significance: not provided 45,525,666(+) C/G SYNONYMOUS_VARIANT
692302 Uncertain Significance: Fetal akinesia sequence; Arthrogryposis multiplex congenita 45,600,325(+) G/A MISSENSE_VARIANT
rs138534271 Likely Benign: not specified 45,550,580(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FBLN1 Gene

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)

Additional Variant Information for FBLN1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FBLN1 Gene

MalaCards: The human disease database

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

- 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}.

Additional Disease Information for FBLN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 LM … Gallagher WM (British journal of cancer 2003) 3 4 23 54
  2. Estrogen induction and overexpression of fibulin-1C mRNA in ovarian cancer cells. (PMID: 11850827) Moll F … Pujol P (Oncogene 2002) 3 4 23 54
  3. Interaction of oncogenic papillomavirus E6 proteins with fibulin-1. (PMID: 12200142) Du M … Chen JJ (Biochemical and biophysical research communications 2002) 3 4 23 54
  4. Structural and functional characterization of the human and mouse fibulin-1 gene promoters: role of Sp1 and Sp3. (PMID: 11829738) Castoldi M … Chu ML (The Biochemical journal 2002) 3 4 23 54
  5. 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 WJ (Journal of medical genetics 2002) 3 4 23 54

Products for FBLN1 Gene

Sources for FBLN1 Gene