EFEMP1
| EGF-containing fibulin-like extracellular matrix protein 1 | |||||||||||
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| Identifiers | |||||||||||
| Symbols | EFEMP1 ; DHRD; DRAD; FBLN3; FBNL; FLJ35535; MGC111353; MLVT; MTLV; S1-5 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 3028 | ||||||||||
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| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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EGF-containing fibulin-like extracellular matrix protein 1, also known as EFEMP1, is a human gene.[1]
This gene spans approximately 18 kb of genomic DNA and consists of 12 exons. Alternative splice patterns in the 5' UTR result in three transcript variants encoding the same extracellular matrix protein. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy.[1]
References
Further reading
- Lecka-Czernik B, Lumpkin CK, Goldstein S (1995). "An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis". Mol. Cell. Biol. 15 (1): 120–8. PMID 7799918.
- Héon E, Piguet B, Munier F; et al. (1996). "Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21". Arch. Ophthalmol. 114 (2): 193–8. PMID 8573024.
- Ikegawa S, Toda T, Okui K, Nakamura Y (1996). "Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin". Genomics. 35 (3): 590–2. doi:10.1006/geno.1996.0402. PMID 8812496.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
- Stone EM, Lotery AJ, Munier FL; et al. (1999). "A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy". Nat. Genet. 22 (2): 199–202. doi:10.1038/9722. PMID 10369267.
- Giltay R, Timpl R, Kostka G (2000). "Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4". Matrix Biol. 18 (5): 469–80. PMID 10601734.
- Katsanis N, Venable S, Smith JR, Lupski JR (2000). "Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13". Hum. Genet. 106 (1): 66–72. PMID 10982184.
- Sauer CG, White K, Kellner U; et al. (2001). "EFEMP1 is not associated with sporadic early onset drusen". Ophthalmic Genet. 22 (1): 27–34. PMID 11262647.
- Matsumoto M, Traboulsi EI (2001). "Dominant radial drusen and Arg345Trp EFEMP1 mutation". Am. J. Ophthalmol. 131 (6): 810–2. PMID 11384588.
- Tarttelin EE, Gregory-Evans CY, Bird AC; et al. (2001). "Molecular genetic heterogeneity in autosomal dominant drusen". J. Med. Genet. 38 (6): 381–4. PMID 11389162.
- Marmorstein LY, Munier FL, Arsenijevic Y; et al. (2002). "Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration". Proc. Natl. Acad. Sci. U.S.A. 99 (20): 13067–72. doi:10.1073/pnas.202491599. PMID 12242346.
- Guymer RH, McNeil R, Cain M; et al. (2003). "Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration". Clin. Experiment. Ophthalmol. 30 (6): 419–23. PMID 12427233.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Yuryev A, Wennogle LP (2003). "Novel raf kinase protein-protein interactions found by an exhaustive yeast two-hybrid analysis". Genomics. 81 (2): 112–25. PMID 12620389.
- Blackburn J, Tarttelin EE, Gregory-Evans CY; et al. (2003). "Transcriptional regulation and expression of the dominant drusen gene FBLN3 (EFEMP1) in mammalian retina". Invest. Ophthalmol. Vis. Sci. 44 (11): 4613–21. PMID 14578376.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Klenotic PA, Munier FL, Marmorstein LY, Anand-Apte B (2004). "Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations". J. Biol. Chem. 279 (29): 30469–73. doi:10.1074/jbc.M403026200. PMID 15123717.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Yáñez AJ, Bertinat R, Spichiger C; et al. (2005). "Novel expression of liver FBPase in Langerhans islets of human and rat pancreas". J. Cell. Physiol. 205 (1): 19–24. doi:10.1002/jcp.20407. PMID 15965961.
- Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
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