Human Gene FBLN5 (ENST00000342058.9) from GENCODE V44
  Description: Homo sapiens fibulin 5 (FBLN5), transcript variant 1, mRNA. (from RefSeq NM_006329)
RefSeq Summary (NM_006329): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000342058.9
Gencode Gene: ENSG00000140092.16
Transcript (Including UTRs)
   Position: hg38 chr14:91,869,411-91,947,694 Size: 78,284 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr14:91,870,224-91,947,229 Size: 77,006 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:91,869,411-91,947,694)mRNA (may differ from genome)Protein (448 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FBLN5_HUMAN
DESCRIPTION: RecName: Full=Fibulin-5; Short=FIBL-5; AltName: Full=Developmental arteries and neural crest EGF-like protein; Short=Dance; AltName: Full=Urine p50 protein; Short=UP50; Flags: Precursor;
FUNCTION: Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Could be a vascular ligand for integrin receptors and may play a role in vascular development and remodeling.
SUBUNIT: Homodimer.
INTERACTION: O95967:EFEMP2; NbExp=3; IntAct=EBI-947897, EBI-743414; P15502:ELN; NbExp=3; IntAct=EBI-947897, EBI-1222108; P35555:FBN1; NbExp=3; IntAct=EBI-947897, EBI-2505934;
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: 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.
DISEASE: Defects in FBLN5 are the cause of cutis laxa, autosomal dominant, type 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.
DISEASE: Defects in FBLN5 are a cause of cutis laxa, autosomal recessive, type 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.
DISEASE: Defects in FBLN5 are the cause of age-related macular degeneration type 3 (ARMD3) [MIM:608895]. ARMD is a multifactorial 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 (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
SIMILARITY: Belongs to the fibulin family.
SIMILARITY: Contains 6 EGF-like domains.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBLN5";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FBLN5
Diseases sorted by gene-association score: neuropathy, hereditary, with or without age-related macular degeneration* (1681), cutis laxa, autosomal recessive, type ia* (1200), cutis laxa, autosomal dominant 2* (919), cutis laxa, autosomal dominant* (544), cutis laxa, autosomal recessive type 1* (350), fbln5-related cutis laxa* (100), cutis laxa (51), macular degeneration, age-related, 1* (34), rectal prolapse (23), macrocephaly, alopecia, cutis laxa, and scoliosis (13), acquired cutis laxa (13), basal laminar drusen (12), tricuspid valve prolapse (11), supravalvar aortic stenosis (10), aortic aneurysm (9), pneumothorax (7), mid-dermal elastolysis (7), retinal drusen (6), lymph node tuberculosis (6), neuropathy (5), eye disease (2), connective tissue disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 267.19 RPKM in Artery - Aorta
Total median expression: 1600.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -186.80465-0.402 Picture PostScript Text
3' UTR -211.90813-0.261 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS

Pfam Domains:
PF07645 - Calcium-binding EGF domain

ModBase Predicted Comparative 3D Structure on Q9UBX5
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005178 integrin binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0001558 regulation of cell growth
GO:0007155 cell adhesion
GO:0007160 cell-matrix adhesion
GO:0030198 extracellular matrix organization
GO:0034394 protein localization to cell surface
GO:0046903 secretion
GO:0048251 elastic fiber assembly
GO:2000121 regulation of removal of superoxide radicals

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0031012 extracellular matrix
GO:0070062 extracellular exosome
GO:0071953 elastic fiber


-  Descriptions from all associated GenBank mRNAs
  AF112152 - Homo sapiens developmental arteries and neural crest EGF-like protein mRNA, complete cds.
AY358898 - Homo sapiens clone DNA32279 FBLN5 (UNQ184) mRNA, complete cds.
HM005698 - Homo sapiens clone HTL-T-75n testis tissue sperm-binding protein Li 75n mRNA, complete cds.
AK074540 - Homo sapiens cDNA FLJ90059 fis, clone HEMBA1003230, highly similar to Fibulin-5 precursor.
BC022280 - Homo sapiens fibulin 5, mRNA (cDNA clone MGC:22412 IMAGE:4693953), complete cds.
BX248290 - human full-length cDNA clone CS0DI085YI08 of Placenta of Homo sapiens (human).
AJ133490 - Homo sapiens fibulin-5.
AK075147 - Homo sapiens cDNA FLJ90666 fis, clone PLACE1005383, highly similar to Fibulin-5 precursor.
AF093118 - Homo sapiens UP50 mRNA, complete cds.
AK307592 - Homo sapiens cDNA, FLJ97540.
KJ898232 - Synthetic construct Homo sapiens clone ccsbBroadEn_07626 FBLN5 gene, encodes complete protein.
KR712018 - Synthetic construct Homo sapiens clone CCSBHm_00034740 FBLN5 (FBLN5) mRNA, encodes complete protein.
KR712019 - Synthetic construct Homo sapiens clone CCSBHm_00034743 FBLN5 (FBLN5) mRNA, encodes complete protein.
KR712020 - Synthetic construct Homo sapiens clone CCSBHm_00034747 FBLN5 (FBLN5) mRNA, encodes complete protein.
KR712021 - Synthetic construct Homo sapiens clone CCSBHm_00034751 FBLN5 (FBLN5) mRNA, encodes complete protein.
CR457140 - Homo sapiens full open reading frame cDNA clone RZPDo834D0412D for gene FBLN5, fibulin 5; complete cds, incl. stopcodon.
AL110148 - Homo sapiens mRNA; cDNA DKFZp586C1824 (from clone DKFZp586C1824).
BX537531 - Homo sapiens mRNA; cDNA DKFZp686G091 (from clone DKFZp686G091).
AK094032 - Homo sapiens cDNA FLJ36713 fis, clone UTERU2010304.
AX748422 - Sequence 1947 from Patent EP1308459.
AK125600 - Homo sapiens cDNA FLJ43612 fis, clone SPLEN2014486, highly similar to Fibulin-5 precursor.
JD274352 - Sequence 255376 from Patent EP1572962.
JD527811 - Sequence 508835 from Patent EP1572962.
JD549279 - Sequence 530303 from Patent EP1572962.
JD559069 - Sequence 540093 from Patent EP1572962.
JD486142 - Sequence 467166 from Patent EP1572962.
JD365651 - Sequence 346675 from Patent EP1572962.
JD045318 - Sequence 26342 from Patent EP1572962.
JD274751 - Sequence 255775 from Patent EP1572962.
JD289130 - Sequence 270154 from Patent EP1572962.
JD402584 - Sequence 383608 from Patent EP1572962.
JD139013 - Sequence 120037 from Patent EP1572962.
JD395090 - Sequence 376114 from Patent EP1572962.
JD273662 - Sequence 254686 from Patent EP1572962.
JD154804 - Sequence 135828 from Patent EP1572962.
JD260051 - Sequence 241075 from Patent EP1572962.
JD353405 - Sequence 334429 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UBX5 (Reactome details) participates in the following event(s):

R-HSA-1592387 Fibulin binds elastic fibres
R-HSA-2328048 Emilin is found in elastic fibres
R-HSA-2161282 Elastic fibres bind associated proteins
R-HSA-1566948 Elastic fibre formation
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: DANCE, ENST00000342058.1, ENST00000342058.2, ENST00000342058.3, ENST00000342058.4, ENST00000342058.5, ENST00000342058.6, ENST00000342058.7, ENST00000342058.8, FBLN5_HUMAN, NM_006329, O75966, Q6IAL4, Q6UWA3, Q9UBX5, uc001xzx.1, uc001xzx.2, uc001xzx.3, uc001xzx.4, uc001xzx.5, uc001xzx.6, UNQ184/PRO210
UCSC ID: ENST00000342058.9
RefSeq Accession: NM_006329
Protein: Q9UBX5 (aka FBLN5_HUMAN or FBL5_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FBLN5:
fbln5-cutis-laxa (FBLN5-Related Cutis Laxa)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.