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FBLN5

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Protein-coding gene in the species Homo sapiens
FBLN5
Identifiers
AliasesFBLN5, ADCL2, ARCL1A, ARMD3, DANCE, EVEC, FIBL-5, UP50, HNARMD, fibulin 5, CMT1H
External IDsOMIM: 604580; MGI: 1346091; HomoloGene: 38170; GeneCards: FBLN5; OMA:FBLN5 - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)
Chromosome 14 (human)Genomic location for FBLN5Genomic location for FBLN5
Band14q32.12Start91,869,411 bp
End91,947,987 bp
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)
Chromosome 12 (mouse)Genomic location for FBLN5Genomic location for FBLN5
Band12|12 EStart101,712,824 bp
End101,785,314 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • thoracic aorta

  • ascending aorta

  • Descending thoracic aorta

  • right lung

  • right coronary artery

  • stromal cell of endometrium

  • left coronary artery

  • gallbladder

  • popliteal artery

  • tibial arteries
Top expressed in
  • external carotid artery

  • ascending aorta

  • tunica media of zone of aorta

  • internal carotid artery

  • semi-lunar valve

  • umbilical cord

  • stroma of bone marrow

  • aortic valve

  • left lung lobe

  • sciatic nerve
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10516

23876

Ensembl

ENSG00000140092

ENSMUSG00000021186

UniProt

Q9UBX5

Q9WVH9

RefSeq (mRNA)
NM_006329
NM_001384158
NM_001384159
NM_001384160
NM_001384161

NM_001384162

NM_011812
NM_001361987

RefSeq (protein)
NP_006320
NP_001371087
NP_001371088
NP_001371089
NP_001371090

NP_001371091

NP_035942
NP_001348916

Location (UCSC)Chr 14: 91.87 – 91.95 MbChr 12: 101.71 – 101.79 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Fibulin-5 (also known as DANCE (developmental arteries and neural crest epidermal growth factor (EGF)-like)) is a protein that in humans is encoded by the FBLN5 gene.

Function

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.

Interactions

FBLN5 has been shown to interact with LOXL1 and apolipoprotein(a).

Clinical relevance

FBLN5 mutations have been described in patients with age-related macular degeneration, as well as being involved in Charcot-Marie-Tooth neuropathies.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000140092Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000021186Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Kowal RC, Jolsin JM, Olson EN, Schultz RA (May 2000). "Assignment of fibulin-5 (FBLN5) to human chromosome 14q31 by in situ hybridization and radiation hybrid mapping". Cytogenetics and Cell Genetics. 87 (1–2): 2–3. doi:10.1159/000015382. PMID 10640802. S2CID 43874486.
  6. ^ "Entrez Gene: FBLN5 fibulin 5".
  7. Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T (Feb 2004). "Elastic fiber homeostasis requires lysyl oxidase-like 1 protein". Nature Genetics. 36 (2): 178–82. doi:10.1038/ng1297. PMID 14745449.
  8. Kapetanopoulos A, Fresser F, Millonig G, Shaul Y, Baier G, Utermann G (June 2002). "Direct interaction of the extracellular matrix protein DANCE with apolipoprotein(a) mediated by the kringle IV-type 2 domain". Molecular Genetics and Genomics. 267 (4): 440–6. doi:10.1007/s00438-002-0673-6. PMID 12111551. S2CID 24503244.
  9. Auer-Grumbach M, Weger M, Fink-Puches R, Papić L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C (Jun 2011). "Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin". Brain. 134 (Pt 6): 1839–52. doi:10.1093/brain/awr076. PMC 3272386. PMID 21576112.

Further reading

External links

Cell signaling: calcium signaling and calcium metabolism
Cell membrane
Adhesion molecules
Calcium channels
Calcium pumps
GPCRs
Annexins
Intracellular signaling
Second messengers
Intracellular channels
Intracellular pumps
Sensors and chelators
Calcium-dependent chaperones
Calcium-dependent kinases
Calcium-dependent proteases
Indirect regulators
Extracellular chelators
Extracellular matrix proteins
Secreted hormones
Calcium-binding domains


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