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Aliases for FBLN5 Gene

Aliases for FBLN5 Gene

  • Fibulin 5 2 3
  • Developmental Arteries And Neural Crest EGF-Like Protein 3 4
  • Urine P50 Protein 3 4
  • ARCL1A 3 6
  • FIBL-5 3 4
  • ADCL2 3 6
  • ARMD3 3 6
  • DANCE 3 4
  • UP50 3 4
  • Fibulin-5 3
  • EVEC 3

External Ids for FBLN5 Gene

Summaries for FBLN5 Gene

Entrez Gene Summary for FBLN5 Gene

  • The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]

GeneCards Summary for FBLN5 Gene

FBLN5 (Fibulin 5) is a Protein Coding gene. Diseases associated with FBLN5 include mid-dermal elastolysis and macular degeneration, age-related, 3. 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 integrin binding. An important paralog of this gene is LTBP3.

UniProtKB/Swiss-Prot for FBLN5 Gene

  • Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:10428823).

Gene Wiki entry for FBLN5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBLN5 Gene

Genomics for FBLN5 Gene

Genomic Location for FBLN5 Gene

Start:
91,869,410 bp from pter
End:
91,947,987 bp from pter
Size:
78,578 bases
Orientation:
Minus strand

Genomic View for FBLN5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FBLN5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBLN5 Gene

Regulatory Elements for FBLN5 Gene

Proteins for FBLN5 Gene

  • Protein details for FBLN5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBX5-FBLN5_HUMAN
    Recommended name:
    Fibulin-5
    Protein Accession:
    Q9UBX5
    Secondary Accessions:
    • O75966
    • Q6IAL4
    • Q6UWA3

    Protein attributes for FBLN5 Gene

    Size:
    448 amino acids
    Molecular mass:
    50180 Da
    Quaternary structure:
    • Homodimer (PubMed:20007835). Monomer, homodimerizes in presence of Ca(2+) (PubMed:19617354). Interacts with ELN (PubMed:17035250). Interacts (via N-terminus) with the integrins ITGAV/ITGB3, ITGAV/ITGB5 and ITGA9/ITGB1 (By similarity).

neXtProt entry for FBLN5 Gene

Proteomics data for FBLN5 Gene at MOPED

Post-translational modifications for FBLN5 Gene

Other Protein References for FBLN5 Gene

No data available for DME Specific Peptides for FBLN5 Gene

Domains for FBLN5 Gene

Gene Families for FBLN5 Gene

HGNC:

UniProtKB/Swiss-Prot:

FBLN5_HUMAN
Domain:
  • Contains 6 EGF-like domains.:
    • Q9UBX5
Family:
  • Belongs to the fibulin family.:
    • Q9UBX5
genes like me logo Genes that share domains with FBLN5: view

Function for FBLN5 Gene

Molecular function for FBLN5 Gene

GENATLAS Biochemistry: fibulin 5,calcium binding,expressed and up-regulated in the developing and disease adult arterial vasculature
UniProtKB/Swiss-Prot Function: Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:10428823).

Gene Ontology (GO) - Molecular Function for FBLN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity --
GO:0005178 integrin binding ISS --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 17035250
GO:0008022 protein C-terminus binding IPI 15528465
genes like me logo Genes that share ontologies with FBLN5: view
genes like me logo Genes that share phenotypes with FBLN5: view

miRNA for FBLN5 Gene

miRTarBase miRNAs that target FBLN5

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for FBLN5 Gene

Localization for FBLN5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBLN5 Gene

Secreted. Secreted, extracellular space, extracellular matrix. Note=co-localizes with ELN in elastic fibers. {ECO:0000269 PubMed:17035250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FBLN5 Gene COMPARTMENTS Subcellular localization image for FBLN5 gene
Compartment Confidence
extracellular 5
cytosol 3

Gene Ontology (GO) - Cellular Components for FBLN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IDA 20551380
GO:0016020 membrane --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with FBLN5: view

Pathways for FBLN5 Gene

genes like me logo Genes that share pathways with FBLN5: view

Pathways by source for FBLN5 Gene

Gene Ontology (GO) - Biological Process for FBLN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IEA --
GO:0007160 cell-matrix adhesion TAS 10428823
GO:0007165 signal transduction --
GO:0007596 blood coagulation --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with FBLN5: view

Compounds for FBLN5 Gene

(1) Novoseek inferred chemical compound relationships for FBLN5 Gene

Compound -log(P) Hits PubMed IDs
vegf 0 3
genes like me logo Genes that share compounds with FBLN5: view

Transcripts for FBLN5 Gene

Unigene Clusters for FBLN5 Gene

Fibulin 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FBLN5 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - -
SP5: -
SP6: - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - -
SP9: -
SP10: -
SP11: -
SP12: - - - - - - - -
SP13:
SP14:

ExUns: 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14:

Relevant External Links for FBLN5 Gene

GeneLoc Exon Structure for
FBLN5
ECgene alternative splicing isoforms for
FBLN5

Expression for FBLN5 Gene

mRNA expression in normal human tissues for FBLN5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBLN5 Gene

This gene is overexpressed in Artery - Aorta (9.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FBLN5 Gene

SOURCE GeneReport for Unigene cluster for FBLN5 Gene Hs.332708

mRNA Expression by UniProt/SwissProt for FBLN5 Gene

Q9UBX5-FBLN5_HUMAN
Tissue specificity: Expressed in skin fibroblasts (at protein level)(PubMed:17035250). Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung and placenta. Not detectable in brain, liver, thymus, prostate, or peripheral blood leukocytes (PubMed:10428823).
genes like me logo Genes that share expressions with FBLN5: view

Orthologs for FBLN5 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBLN5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBLN5 36
  • 99.78 (n)
  • 100 (a)
FBLN5 37
  • 82 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBLN5 36
  • 91.67 (n)
  • 96.87 (a)
FBLN5 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBLN5 36
  • 91.29 (n)
  • 96.87 (a)
FBLN5 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbln5 36
  • 89.36 (n)
  • 94.2 (a)
Fbln5 16
Fbln5 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBLN5 37
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbln5 36
  • 88.84 (n)
  • 94.2 (a)
chicken
(Gallus gallus)
Aves FBLN5 36
  • 77.55 (n)
  • 84.23 (a)
FBLN5 37
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBLN5 37
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbln5 36
  • 73.03 (n)
  • 74.71 (a)
zebrafish
(Danio rerio)
Actinopterygii fbln5 36
  • 64.85 (n)
  • 65.08 (a)
fbln5 37
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31999 37
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fbl-1 37
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 12 (a)
OneToMany
Species with no ortholog for FBLN5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 FBLN5 Gene

ENSEMBL:
Gene Tree for FBLN5 (if available)
TreeFam:
Gene Tree for FBLN5 (if available)

Paralogs for FBLN5 Gene

genes like me logo Genes that share paralogs with FBLN5: view

Variants for FBLN5 Gene

Sequence variations from dbSNP and Humsavar for FBLN5 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs10197 -- 91,869,577(+) CTTTC(A/G)AAGGA utr-variant-3-prime
rs726063 -- 91,906,854(+) CAGTG(C/T)GGCAA intron-variant
rs741198 -- 91,901,067(+) ATCTC(C/T)ACCTC intron-variant
rs876043 -- 91,890,801(+) CTAGC(A/G)TGGAT intron-variant
rs887897 -- 91,890,850(+) ACCAA(C/T)CCTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBLN5 Gene

Variant ID Type Subtype PubMed ID
esv275270 CNV Loss 21479260
nsv523266 CNV Loss 19592680

Relevant External Links for FBLN5 Gene

HapMap Linkage Disequilibrium report
FBLN5
Human Gene Mutation Database (HGMD)
FBLN5

Disorders for FBLN5 Gene

(3) OMIM Diseases for FBLN5 Gene (604580)

UniProtKB/Swiss-Prot

FBLN5_HUMAN
  • Cutis laxa, autosomal dominant, 2 (ADCL2) [MIM:614434]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. {ECO:0000269 PubMed:12618961}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. {ECO:0000269 PubMed:12189163, ECO:0000269 PubMed:16652333, ECO:0000269 PubMed:16691202, ECO:0000269 PubMed:17035250, ECO:0000269 PubMed:18185537}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations affecting this gene can modify the phenotype of diseases caused by ELN mutations. {ECO:0000269 PubMed:19194475}.
  • Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:15269314, ECO:0000269 PubMed:16652333}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for FBLN5 Gene

(4) Novoseek inferred disease relationships for FBLN5 Gene

Disease -log(P) Hits PubMed IDs
cutis laxa 92.6 23
drusen 64.3 2
aortic stenosis supravalvular 62.4 1
connective tissue diseases 57.1 1

Relevant External Links for FBLN5

GeneTests
FBLN5
GeneReviews
FBLN5
Genetic Association Database (GAD)
FBLN5
Human Genome Epidemiology (HuGE) Navigator
FBLN5
genes like me logo Genes that share disorders with FBLN5: view

Publications for FBLN5 Gene

  1. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. (PMID: 12189163) Loeys B. … de Paepe A. (Hum. Mol. Genet. 2002) 3 4 23
  2. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. (PMID: 12618961) Markova D. … Chu M.-L. (Am. J. Hum. Genet. 2003) 3 4 23
  3. DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries. (PMID: 10428823) Nakamura T. … Honjo T. (J. Biol. Chem. 1999) 3 4 23
  4. Assignment of fibulin-5 (FBLN5) to human chromosome 14q31 by in situ hybridization and radiation hybrid mapping. (PMID: 10640802) Kowal R.C. … Schultz R.A. (Cytogenet. Cell Genet. 1999) 2 3 23
  5. Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. (PMID: 16691202) Elahi E. … Loeys B. (J. Invest. Dermatol. 2006) 3 4 23

Products for FBLN5 Gene

Sources for FBLN5 Gene

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