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Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001039348 Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_001039348.2, 320118885
Length 3094 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.
Product EGF-containing fibulin-like extracellular matrix protein 1 precursor
Comment

Summary: 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. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009].


Transcript Variant: This variant (2) represents the longer transcript. Variants 2 and 3 encode the same protein.

RefSeq NP_001034437.1
CDS 502..1983
Misc Feature(1)19..21
Misc Feature(2)19..21
Misc Feature(3)1018..1140
Misc Feature(4)order(1018..1020,1027..1029,1075..1077)
Misc Feature(5)1141..1236
Misc Feature(6)order(1141..1143,1150..1152,1189..1191)
Misc Feature(7)1261..1356
Misc Feature(8)order(1261..1263,1270..1272,1309..1311)
Misc Feature(9)1276..1980
Misc Feature(10)1381..1500
Misc Feature(11)1501..>1578
Exon (1)1..453
Gene:EFEMP1
Gene Synonym:DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Exon (2)454..494
Gene:EFEMP1
Gene Synonym:DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Exon (3)495..582
Gene:EFEMP1
Gene Synonym:DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Exon (4)583..631
Gene:EFEMP1
Gene Synonym:DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Exon (5)632..1018
Gene:EFEMP1
Gene Synonym:DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Exon (6)1019..1141
Gene:EFEMP1
Gene Synonym:DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Exon (7)1142..1261
Gene:EFEMP1
Gene Synonym:DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Exon (8)1262..1381
Gene:EFEMP1
Gene Synonym:DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Exon (9)1382..1501
Gene:EFEMP1
Gene Synonym:DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Exon (10)1502..1625
Gene:EFEMP1
Gene Synonym:DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Exon (11)1626..1821
Gene:EFEMP1
Gene Synonym:DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Exon (12)1822..3094
Gene:EFEMP1
Gene Synonym:DHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Translation MLKALFLTMLTLALVKSQDTEETITYTQCTDGYEWDPVRQQCKDIDECDIVPDACKGGMK CVNHYGGYLCLPKTAQIIVNNEQPQQETQPAEGTSGATTGVVAASSMATSGVLPGGGFVA SAAAVAGPEMQTGRNNFVIRRNPADPQRIPSNPSHRIQCAAGYEQSEHNVCQDIDECTAG THNCRADQVCINLRGSFACQCPPGYQKRGEQCVDIDECTIPPYCHQRCVNTPGSFYCQCS PGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCNQGYELSSDRLNCEDIDECRT SSYLCQYQCVNEPGKFSCMCPQGYQVVRSRTCQDINECETTNECREDEMCWNYHGGFRCY PRNPCQDPYILTPENRCVCPVSNAMCRELPQSIVYKYMSIRSDRSVPSDIFQIQATTIYA NTINTFRIKSGNENGEFYLRQTSPVSAMLVLVKSLSGPREHIVDLEMLTVSSIGTFRTSS VLRLTIIVGPFSF
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Position Chain Variation Link
complement(20)-t, cdbSNP:181925896
complement(38)-g, adbSNP:72811724
complement(42)-t, gdbSNP:79563212
complement(134)-g, cdbSNP:111619737
complement(218)-g, adbSNP:189647029
complement(306)-t, cdbSNP:3762514
complement(321)-g, adbSNP:28510596
complement(414)-g, adbSNP:143361440
complement(416)-g, adbSNP:139902612
complement(435)-g, adbSNP:3762515
complement(438)-t, cdbSNP:3762516
complement(442)-t, cdbSNP:192789765
complement(450)-t, cdbSNP:10167115
complement(460..461)-dbSNP:
complement(460..461)-, adbSNP:35004735
complement(463)-t, gdbSNP:144127545
complement(476..477)-, cdbSNP:35393035
complement(486)-t, adbSNP:187417918
complement(519)-g, adbSNP:182486751
complement(547)-t, gdbSNP:150463947
complement(594)-dbSNP:
complement(594)-g, adbSNP:141747986
complement(639)-dbSNP:
complement(639)-g, adbSNP:138017183
complement(647)-t, gdbSNP:55849640
complement(660)-g, adbSNP:17047322
complement(696)-g, adbSNP:142572513
complement(708)-c, adbSNP:12292
complement(735)-g, adbSNP:202147132
complement(747)-g, adbSNP:35447389
complement(798)-g, adbSNP:142637468
complement(799)-t, cdbSNP:150201810
complement(801..802)-, cdbSNP:35441215
complement(826)-t, cdbSNP:143704611
complement(840)-c, adbSNP:200070678
complement(847)-t, cdbSNP:147918399
complement(888)-g, adbSNP:14282
complement(1008)-g, adbSNP:149890382
complement(1024)-dbSNP:
complement(1024)-t, cdbSNP:184503723
complement(1026)-g, adbSNP:151171192
complement(1040)-t, cdbSNP:199946928
complement(1185)-dbSNP:
complement(1185)-g, adbSNP:139930646
complement(1233)-t, cdbSNP:199622147
complement(1258)-t, cdbSNP:142542256
complement(1286)-dbSNP:
complement(1286)-t, cdbSNP:148488868
complement(1308)-g, adbSNP:138120227
complement(1413)-dbSNP:
complement(1413)-t, cdbSNP:143083501
complement(1425)-t, cdbSNP:146846635
complement(1455)-g, adbSNP:148177279
complement(1490)-t, cdbSNP:150399072
complement(1534)-dbSNP:
complement(1534)-t, cdbSNP:121434491
complement(1620)-t, cdbSNP:148823921
complement(1628)-dbSNP:
complement(1628)-t, cdbSNP:143285144
complement(1661)-t, cdbSNP:146446706
complement(1712)-g, cdbSNP:139142559
complement(1753)-t, cdbSNP:142194873
complement(1851)-dbSNP:
complement(1851)-c, adbSNP:147448993
complement(1855)-t, cdbSNP:139171666
complement(1869)-t, cdbSNP:149616551
complement(1921)-g, cdbSNP:200959130
complement(1931)-t, cdbSNP:201035117
complement(1933)-t, gdbSNP:150488038
complement(1979)-g, adbSNP:112871166
complement(1989)-, adbSNP:200536754
complement(1992)-t, cdbSNP:199663914
complement(2050)-t, adbSNP:150344322
complement(2083)-g, adbSNP:113974409
complement(2151)-g, adbSNP:1802574
complement(2231)-t, gdbSNP:117386259
complement(2240)-g, cdbSNP:181180919
complement(2437..2438)-, adbSNP:35704713
complement(2444)-g, adbSNP:1061326
complement(2490)-g, adbSNP:188698134
complement(2516)-g, adbSNP:56411268
complement(2540)-t, cdbSNP:1063452
complement(2565..2566)-, adbSNP:55878434
complement(2632)-g, adbSNP:186888998
complement(2670)-g, adbSNP:138843899
complement(2678)-t, cdbSNP:3791680
complement(2679)-g, cdbSNP:181823941
complement(2783)-g, adbSNP:146101049
complement(2786)-t, gdbSNP:112572819
complement(2945)-t, gdbSNP:77386452
complement(2946)-t, cdbSNP:190519603
complement(2976)-t, gdbSNP:185614902
complement(2987)-g, cdbSNP:1802575
complement(3045)-g, adbSNP:142276628
complement(3046)-t, cdbSNP:112334283
complement(3048)-t, cdbSNP:147551451
complement(3094)-t, cdbSNP:192552476
Gene SymbolEFEMP1
Gene SynonymDHRD; DRAD; FBLN3; FBNL; FIBL-3; MLVT; MTLV; S1-5
Chromosome2
Locus Map2p16
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001039348 Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA. In-stock $509.00 $460.00 12
NM_001039349 Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 3, mRNA. In-stock $509.00 $460.00 12
Title Laser clearance of drusen deposit in patients with autosomal dominant drusen (p.Arg345Trp in EFEMP1) .
Author Lenassi,E., Troeger,E., Wilke,R., Tufail,A., Hawlina,M., Jeffery,G. and Webster,A.R.
Journal Am. J. Ophthalmol. 155 (1), 190-198 (2013)
Title Fibulin-3 promotes glioma growth and resistance through a novel paracrine regulation of Notch signaling .
Author Hu,B., Nandhu,M.S., Sim,H., Agudelo-Garcia,P.A., Saldivar,J.C., Dolan,C.E., Mora,M.E., Nuovo,G.J., Cole,S.E. and Viapiano,M.S.
Journal Cancer Res. 72 (15), 3873-3885 (2012)
Title Relationship between the expression of fibulin-3 and anterior vaginal wall prolapse .
Author Ahn,K.H., Kim,T., Hur,J.Y., Kim,S.H., Lee,K.W. and Kim,Y.T.
Journal J Obstet Gynaecol 32 (4), 362-366 (2012)
Title Transcriptional regulation and expression of the dominant drusen gene FBLN3 (EFEMP1) in mammalian retina .
Author Blackburn,J., Tarttelin,E.E., Gregory-Evans,C.Y., Moosajee,M. and Gregory-Evans,K.
Journal Invest. Ophthalmol. Vis. Sci. 44 (11), 4613-4621 (2003)
Title Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration .
Author Marmorstein,L.Y., Munier,F.L., Arsenijevic,Y., Schorderet,D.F., McLaughlin,P.J., Chung,D., Traboulsi,E. and Marmorstein,A.D.
Journal Proc. Natl. Acad. Sci. U.S.A. 99 (20), 13067-13072 (2002)
Title Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4 .
Author Giltay,R., Timpl,R. and Kostka,G.
Journal Matrix Biol. 18 (5), 469-480 (1999)
Title A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy .
Author Stone,E.M., Lotery,A.J., Munier,F.L., Heon,E., Piguet,B., Guymer,R.H., Vandenburgh,K., Cousin,P., Nishimura,D., Swiderski,R.E., Silvestri,G., Mackey,D.A., Hageman,G.S., Bird,A.C., Sheffield,V.C. and Schorderet,D.F.
Journal Nat. Genet. 22 (2), 199-202 (1999)
Title Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin .
Author Ikegawa,S., Toda,T., Okui,K. and Nakamura,Y.
Journal Genomics 35 (3), 590-592 (1996)
Title Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21 .
Author Heon,E., Piguet,B., Munier,F., Sneed,S.R., Morgan,C.M., Forni,S., Pescia,G., Schorderet,D., Taylor,C.M., Streb,L.M., Wiles,C.D., Nishimura,D.Y., Sheffield,V.C. and Stone,E.M.
Journal Arch. Ophthalmol. 114 (2), 193-198 (1996)
Title 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 .
Author Lecka-Czernik,B., Lumpkin,C.K. Jr. and Goldstein,S.
Journal Mol. Cell. Biol. 15 (1), 120-128 (1995)


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