FBLN5

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FBLN5
Identifiers
AliasesFBLN5, ADCL2, ARCL1A, ARMD3, DANCE, EVEC, FIBL-5, UP50, HNARMD, fibulin 5, CMT1H
External IDsOMIM: 604580 MGI: 1346091 HomoloGene: 38170 GeneCards: FBLN5
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_011812
NM_001361987

RefSeq (protein)

NP_035942
NP_001348916

Location (UCSC)Chr 14: 91.87 – 91.95 MbChr 12: 101.71 – 101.79 Mb
PubMed search[3][4]
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.[5][6]

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.[6]

Interactions

FBLN5 has been shown to interact with LOXL1[7] and apolipoprotein(a).[8]

Clinical relevance

FBLN5 mutations have been described in patients with age-related macular degeneration, as well as being involved in Charcot-Marie-Tooth neuropathies.[9]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000140092 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021186 - Ensembl, 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. ^ a b "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