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EFEMP1

From Wikipedia, the free encyclopedia

EFEMP1
Identifiers
AliasesEFEMP1, DHRD, DRAD, FBLN3, FBNL, FIBL-3, MLVT, MTLV, S1-5, EGF containing fibulin like extracellular matrix protein 1, EGF containing fibulin extracellular matrix protein 1
External IDsOMIM: 601548; MGI: 1339998; HomoloGene: 3028; GeneCards: EFEMP1; OMA:EFEMP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001039348
NM_001039349
NM_004105
NM_018894

NM_146015

RefSeq (protein)

NP_001034437
NP_001034438

NP_666127

Location (UCSC)Chr 2: 55.87 – 55.92 MbChr 11: 28.8 – 28.88 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

EGF-containing fibulin-like extracellular matrix protein 1 is a protein that in humans is encoded by the EFEMP1 gene.[5][6][7]

Gene

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This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy and with predisposition to hernias. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]. 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.[7]

Clinical significance

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Mutations in this gene are associated with Doyne honeycomb retinal dystrophy and with predisposition to hernias.[7][8]

EFEMP1/Fibulin-3 has recently been reported as a potential biomarker to facilitate the identification of patients with pleural mesothelioma.[9]

Interactions

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EFEMP1 has been shown to interact with ARAF.[10]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115380Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020467Ensembl, 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. ^ Ikegawa S, Toda T, Okui K, Nakamura Y (Dec 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.
  6. ^ Lecka-Czernik B, Lumpkin CK Jr, Goldstein S (Jan 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. doi:10.1128/mcb.15.1.120. PMC 231918. PMID 7799918.
  7. ^ a b c "Entrez Gene: EFEMP1 EGF-containing fibulin-like extracellular matrix protein 1".
  8. ^ Jorgenson E, Makki N, Shen L, Chen DC, Tian C, Eckalbar WL, Hinds D, Ahituv N, Avins A (2015). "A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia - PubMed". Nature Communications. 6: 10130. doi:10.1038/ncomms10130. PMC 4703831. PMID 26686553.
  9. ^ Pass HI, Levin SM, Harbut MR, Melamed J, Chiriboga L, Donington J, Huflejt M, Carbone M, Chia D, Goodglick L, Goodman GE, Thornquist MD, Liu G, de Perrot M, Tsao MS, Goparaju C (October 2012). "Fibulin-3 as a blood and effusion biomarker for pleural mesothelioma". N. Engl. J. Med. 367 (15): 1417–27. doi:10.1056/NEJMoa1115050. PMC 3761217. PMID 23050525.
  10. ^ Yuryev A, Wennogle LP (February 2003). "Novel raf kinase protein-protein interactions found by an exhaustive yeast two-hybrid analysis". Genomics. 81 (2): 112–25. doi:10.1016/S0888-7543(02)00008-3. PMID 12620389.

Further reading

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