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Database:

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Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003383 Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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RefSeq Version NM_003383.3, 65301166
Length 3646 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.
Product very low-density lipoprotein receptor isoform a precursor
Comment

Summary: The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009].


Transcript Variant: This variant (1) encodes the longer isoform (a).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_003374.3
CDS 398..3019
Misc Feature(1)494..598
Misc Feature(2)order(509..511,533..535,566..571)
Misc Feature(3)order(545..547,554..556,566..568,584..589)
Misc Feature(4)575..589
Misc Feature(5)611..706
Misc Feature(6)order(626..628,650..652,683..688)
Misc Feature(7)order(662..664,671..673,683..685,701..706)
Misc Feature(8)692..706
Misc Feature(9)734..844
Misc Feature(10)order(749..751,779..781,812..817)
Misc Feature(11)order(791..793,800..802,812..814,830..835)
Misc Feature(12)821..835
Misc Feature(13)857..961
Misc Feature(14)order(872..874,896..898,929..934)
Misc Feature(15)order(908..910,917..919,929..931,947..952)
Misc Feature(16)938..952
Misc Feature(17)1112..1216
Misc Feature(18)order(1127..1129,1151..1153,1184..1189)
Misc Feature(19)order(1163..1165,1172..1174,1184..1186,1202..1207)
Misc Feature(20)1193..1207
Misc Feature(21)1229..1333
Misc Feature(22)order(1244..1246,1268..1270,1301..1306)
Misc Feature(23)order(1280..1282,1289..1291,1301..1303,1319..1324)
Misc Feature(24)1310..1324
Misc Feature(25)1355..1447
Misc Feature(26)order(1367..1369,1391..1393,1424..1429)
Misc Feature(27)order(1403..1405,1412..1414,1424..1426,1442..1447)
Misc Feature(28)1433..1447
Misc Feature(29)1466..1579
Misc Feature(30)1583..1675
Misc Feature(31)order(1583..1585,1592..1594,1631..1633)
Misc Feature(32)1712..1837
Misc Feature(33)1838..1969
Misc Feature(34)1838..1963
Misc Feature(35)1910..2038
Misc Feature(36)1970..2098
Misc Feature(37)2099..2230
Misc Feature(38)2099..2221
Misc Feature(39)2171..2299
Misc Feature(40)2231..2359
Misc Feature(41)2360..2488
Misc Feature(42)2360..2482
Misc Feature(43)2648..2767
Misc Feature(44)2789..2854
Misc Feature(45)2891..2908
Exon (1)1..479
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (2)480..599
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (3)600..722
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (4)723..845
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (5)846..1217
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (6)1218..1340
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (7)1341..1463
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (8)1464..1583
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (9)1584..1709
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (10)1710..1881
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (11)1882..2100
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (12)2101..2219
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (13)2220..2359
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (14)2360..2501
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (15)2502..2648
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (16)2649..2732
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (17)2733..2813
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (18)2814..2983
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Exon (19)2984..3636
Gene:VLDLR
Gene Synonym:CARMQ1; CHRMQ1; VLDLRCH
Translation MGTSALWALWLLLALCWAPRESGATGTGRKAKCEPSQFQCTNGRCITLLWKCDGDEDCVD GSDEKNCVKKTCAESDFVCNNGQCVPSRWKCDGDPDCEDGSDESPEQCHMRTCRIHEISC GAHSTQCIPVSWRCDGENDCDSGEDEENCGNITCSPDEFTCSSGRCISRNFVCNGQDDCS DGSDELDCAPPTCGAHEFQCSTSSCIPISWVCDDDADCSDQSDESLEQCGRQPVIHTKCP ASEIQCGSGECIHKKWRCDGDPDCKDGSDEVNCPSRTCRPDQFECEDGSCIHGSRQCNGI RDCVDGSDEVNCKNVNQCLGPGKFKCRSGECIDISKVCNQEQDCRDWSDEPLKECHINEC LVNNGGCSHICKDLVIGYECDCAAGFELIDRKTCGDIDECQNPGICSQICINLKGGYKCE CSRGYQMDLATGVCKAVGKEPSLIFTNRRDIRKIGLERKEYIQLVEQLRNTVALDADIAA QKLFWADLSQKAIFSASIDDKVGRHVKMIDNVYNPAAIAVDWVYKTIYWTDAASKTISVA TLDGTKRKFLFNSDLREPASIAVDPLSGFVYWSDWGEPAKIEKAGMNGFDRRPLVTADIQ WPNGITLDLIKSRLYWLDSKLHMLSSVDLNGQDRRIVLKSLEFLAHPLALTIFEDRVYWI DGENEAVYGANKFTGSELATLVNNLNDAQDIIVYHELVQPSGKNWCEEDMENGGCEYLCL PAPQINDHSPKYTCSCPSGYNVEENGRDCQSTATTVTYSETKDTNTTEISATSGLVPGGI NVTTAVSEVSVPPKGTSAAWAILPLLLLVMAAVGGYLMWRNWQHKNMKSMNFDNPVYLKT TEEDLSIDIGRHSASVGHTYPAISVVSTDDDLA
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Position Chain Variation Link
21+dbSNP:
21+a, cdbSNP:113200900
198+a, gdbSNP:62535728
227+c, gdbSNP:35763266
285+c, gdbSNP:34433332
329+a, gdbSNP:12379259
342+c, tdbSNP:34881325
353+a, gdbSNP:1130330
379..380+, gccdbSNP:71329437
421+a, gdbSNP:34336270
501+dbSNP:
501+c, tdbSNP:113809568
572+a, gdbSNP:6149
577+c, tdbSNP:151277117
639+dbSNP:
639+a, gdbSNP:140526335
657+g, tdbSNP:150462184
689+a, gdbSNP:200596776
712+a, gdbSNP:138500615
740+dbSNP:
740+a, cdbSNP:142616247
848+dbSNP:
848+a, gdbSNP:114422840
861+c, gdbSNP:34080096
865+c, tdbSNP:2242105
868+c, tdbSNP:138649440
869+a, gdbSNP:149246957
889+c, gdbSNP:34501158
929+a, gdbSNP:201159956
938+a, gdbSNP:144469558
947+a, gdbSNP:17848378
967+a, gdbSNP:116556362
979+c, tdbSNP:148012674
980+a, gdbSNP:201652132
1037+a, gdbSNP:113347960
1105+c, tdbSNP:199827665
1123+c, tdbSNP:200656858
1129+c, gdbSNP:145995735
1135+c, tdbSNP:116687040
1143+a, gdbSNP:199615969
1166+c, tdbSNP:80338907
1175+a, gdbSNP:139934879
1182+a, cdbSNP:34761707
1189+c, tdbSNP:141850403
1218+dbSNP:
1218+c, gdbSNP:201851048
1233+a, gdbSNP:114307467
1285+c, gdbSNP:146285748
1299+a, gdbSNP:139671268
1317+a, cdbSNP:149772780
1379+dbSNP:
1379+a, gdbSNP:116306908
1395+a, cdbSNP:182992206
1438+c, gdbSNP:114872818
1471+dbSNP:
1471+c, tdbSNP:115059319
1500+c, tdbSNP:78032068
1529+c, tdbSNP:142885301
1532+a, gdbSNP:6146
1533+a, gdbSNP:113022584
1559+c, tdbSNP:114172780
1575+c, gdbSNP:142578876
1643+dbSNP:
1643+a, gdbSNP:146889983
1684+g, tdbSNP:147957014
1688+a, gdbSNP:201031743
1694+a, gdbSNP:140062795
1710+dbSNP:
1710+a, gdbSNP:200605669
1713+a, tdbSNP:201774205
1739+a, c, tdbSNP:80338905
1740+a, gdbSNP:137946976
1771+g, tdbSNP:149478788
1787+a, cdbSNP:34753566
1791+c, tdbSNP:78342396
1849+a, cdbSNP:144724569
1855+c, tdbSNP:6143
1870+a, gdbSNP:200483246
1871+a, gdbSNP:141757226
1924+dbSNP:
1924+c, tdbSNP:116467449
1929+a, gdbSNP:182216426
1938+a, cdbSNP:184905581
1993+a, gdbSNP:146258996
2040+a, gdbSNP:148487944
2048+c, tdbSNP:200479365
2063+c, tdbSNP:141396971
2078+a, gdbSNP:35724190
2093+c, gdbSNP:199595432
2105+dbSNP:
2105+a, gdbSNP:183795011
2133+c, tdbSNP:55946475
2149+a, gdbSNP:12348577
2165+a, gdbSNP:115419789
2177+c, tdbSNP:150818575
2188+a, gdbSNP:115773578
2206+c, tdbSNP:6147
2207+a, gdbSNP:147695876
2235+dbSNP:
2235+a, gdbSNP:35948251
2249+g, tdbSNP:114329139
2269+a, gdbSNP:200112781
2290+c, tdbSNP:200494587
2298+c, tdbSNP:35339834
2326+c, tdbSNP:144842116
2345+c, gdbSNP:116047052
2400+dbSNP:
2400+a, gdbSNP:201696336
2415+g, tdbSNP:149002489
2438+c, tdbSNP:79720897
2445+a, gdbSNP:150930909
2464+a, gdbSNP:6148
2474+c, gdbSNP:144638056
2529+dbSNP:
2529+a, gdbSNP:111660254
2554+c, tdbSNP:138593492
2560+a, gdbSNP:141715115
2585+c, tdbSNP:145470335
2606+c, tdbSNP:138053412
2660+dbSNP:
2660+a, cdbSNP:112189006
2662+a, tdbSNP:1130332
2667+c, tdbSNP:17848383
2688+c, tdbSNP:56737058
2698..2699+, adbSNP:34563292
2699+c, gdbSNP:143836414
2707+a, gdbSNP:147263784
2736+dbSNP:
2736+, tdbSNP:80338906
2768+a, gdbSNP:35334949
2772+c, tdbSNP:144754195
2792+g, tdbSNP:183359461
2794+a, tdbSNP:150872700
2825+dbSNP:
2825+a, gdbSNP:150059993
2860+c, tdbSNP:140801553
2896+c, tdbSNP:201985031
2923+a, cdbSNP:192276933
2943+c, tdbSNP:116082439
2968+a, tdbSNP:201566809
2973+c, tdbSNP:184610667
3035+dbSNP:
3035+c, tdbSNP:150475109
3042+c, tdbSNP:138315503
3065+c, gdbSNP:35412127
3068+a, gdbSNP:199836483
3082+c, tdbSNP:17848373
3096+a, tdbSNP:17848374
3111+c, gdbSNP:184964853
3162+a, gdbSNP:113664587
3199+a, gdbSNP:3421
3233+c, tdbSNP:189180202
3325+c, tdbSNP:181124390
3528+a, gdbSNP:139291322
3541+a, cdbSNP:186510684
3553+c, tdbSNP:10967349
3570+c, tdbSNP:8210
Gene SymbolVLDLR
Gene SynonymCARMQ1; CHRMQ1; VLDLRCH
Chromosome9
Locus Map9p24
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001018056 Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 2, mRNA. On-demand $899.00 20
NM_003383 Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA. On-demand $899.00 20
Title Genome-wide association study of a quantitative disordered gambling trait .
Author Lind,P.A., Zhu,G., Montgomery,G.W., Madden,P.A., Heath,A.C., Martin,N.G. and Slutske,W.S.
Journal Addict Biol 18 (3), 511-522 (2013)
Title Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition in schizophrenia .
Author Verbrugghe,P., Bouwer,S., Wiltshire,S., Carter,K., Chandler,D., Cooper,M., Morar,B., Razif,M.F., Henders,A., Badcock,J.C., Dragovic,M., Carr,V., Almeida,O.P., Flicker,L., Montgomery,G., Jablensky,A. and Kalaydjieva,L.
Journal Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B (4), 392-404 (2012)
Title A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion .
Author Ali,B.R., Silhavy,J.L., Gleeson,M.J., Gleeson,J.G. and Al-Gazali,L.
Journal BMC Med. Genet. 13, 80 (2012)
Title Pure distal 9p deletion in a female infant with cerebral palsy .
Author Chen,C.P., Lin,S.P., Su,Y.N., Su,J.W., Chern,S.R., Town,D.D. and Wang,W.
Journal Genet. Couns. 23 (2), 215-221 (2012)
Title Copy number variation of age-related macular degeneration relevant genes in the Korean population .
Author Park,J.H., Lee,S., Yu,H.G., Kim,J.I. and Seo,J.S.
Journal PLoS ONE 7 (2), E31243 (2012)
Title The very low density lipoprotein receptor mediates the cellular catabolism of lipoprotein lipase and urokinase-plasminogen activator inhibitor type I complexes .
Author Argraves,K.M., Battey,F.D., MacCalman,C.D., McCrae,K.R., Gafvels,M., Kozarsky,K.F., Chappell,D.A., Strauss,J.F. III and Strickland,D.K.
Journal J. Biol. Chem. 270 (44), 26550-26557 (1995)
Title Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease .
Author Okuizumi,K., Onodera,O., Namba,Y., Ikeda,K., Yamamoto,T., Seki,K., Ueki,A., Nanko,S., Tanaka,H., Takahashi,H., Oyanagi,K., Mizusawa,H., Kanazawa,I. and Tsuji,S.
Journal Nat. Genet. 11 (2), 207-209 (1995)
Title Enhancement of the binding of triglyceride-rich lipoproteins to the very low density lipoprotein receptor by apolipoprotein E and lipoprotein lipase .
Author Takahashi,S., Suzuki,J., Kohno,M., Oida,K., Tamai,T., Miyabo,S., Yamamoto,T. and Nakai,T.
Journal J. Biol. Chem. 270 (26), 15747-15754 (1995)
Title Localization and regulation of the human very low density lipoprotein/apolipoprotein-E receptor: trophoblast expression predicts a role for the receptor in placental lipid transport .
Author Wittmaack,F.M., Gafvels,M.E., Bronner,M., Matsuo,H., McCrae,K.R., Tomaszewski,J.E., Robinson,S.L., Strickland,D.K. and Strauss,J.F. III.
Journal Endocrinology 136 (1), 340-348 (1995)
Title Human very-low-density lipoprotein receptor complementary DNA and deduced amino acid sequence and localization of its gene (VLDLR) to chromosome band 9p24 by fluorescence in situ hybridization .
Author Oka,K., Tzung,K.W., Sullivan,M., Lindsay,E., Baldini,A. and Chan,L.
Journal Genomics 20 (2), 298-300 (1994)


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