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Database:

Blast Method:

 
 


Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu16575 Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu16575C Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001164277.1, 256219482
Length 1290 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 1, mRNA.
Product glucose-6-phosphate translocase isoform 1
Comment

Summary: This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009].


Transcript Variant: This variant (1) represents the longest transcript variant. Variants 1, 4, and 5 encode the same protein (isoform 1).


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_001157749.1
CDS 758..2047
Misc Feature(1)737..739
Misc Feature(2)797..2002
Misc Feature(3)797..2002
Misc Feature(4)809..1948
Misc Feature(5)order(839..841,848..856,860..865,914..916,923..928,
Misc Feature(6)1007..1069
Misc Feature(7)1070..1132
Misc Feature(8)1172..1234
Misc Feature(9)1256..1318
Misc Feature(10)1412..1474
Misc Feature(11)1535..1597
Misc Feature(12)1661..1723
Misc Feature(13)1742..1804
Misc Feature(14)1859..1921
Misc Feature(15)1937..1999
Exon (1)1..58
Gene:SLC37A4
Gene Synonym:G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19
Exon (2)59..562
Gene:SLC37A4
Gene Synonym:G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19
Exon (3)563..905
Gene:SLC37A4
Gene Synonym:G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19
Exon (4)906..1138
Gene:SLC37A4
Gene Synonym:G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19
Exon (5)1139..1382
Gene:SLC37A4
Gene Synonym:G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19
Exon (6)1383..1541
Gene:SLC37A4
Gene Synonym:G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19
Exon (7)1542..1627
Gene:SLC37A4
Gene Synonym:G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19
Exon (8)1628..1741
Gene:SLC37A4
Gene Synonym:G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19
Exon (9)1742..1880
Gene:SLC37A4
Gene Synonym:G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19
Exon (10)1881..2606
Gene:SLC37A4
Gene Synonym:G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19
Translation MAAQGYGYYRTVIFSAMFGGYSLYYFNRKTFSFVMPSLVEEIPLDKDDLGFITSSQSAAY AISKFVSGVLSDQMSARWLFSSGLLLVGLVNIFFAWSSTVPVFAALWFLNGLAQGLGWPP CGKVLRKWFEPSQFGTWWAILSTSMNLAGGLGPILATILAQSYSWRSTLALSGALCVVVS FLCLLLIHNEPADVGLRNLDPMPSEGKKGSLKEESTLQELLLSPYLWVLSTGYLVVFGVK TCCTDWGQFFLIQEKGQSALVGSSYMSALEVGGLVGSIAAGYLSDRAMAKAGLSNYGNPR HGLLLFMMAGMTVSMYLFRVTVTSDSPKLWILVLGAVFGFSSYGPIALFGVIANESAPPN LCGTSHAIVGLMANVGGFLAGLPFSTIAKHYSWSTAFWVAEVICAASTAAFFLLRNIRTK MGRVSKKAE
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Position Chain Variation Link
complement(3)-dbSNP:
complement(3)-t, adbSNP:1784559
complement(18)-g, adbSNP:111735970
complement(143)-dbSNP:
complement(143)-g, adbSNP:188146646
complement(223)-t, cdbSNP:138523194
complement(242)-t, cdbSNP:3759012
complement(338)-g, cdbSNP:2846281
complement(517)-t, cdbSNP:78274446
complement(518)-t, cdbSNP:369643211
complement(575)-dbSNP:
complement(575)-g, adbSNP:145369754
complement(647)-t, cdbSNP:189829762
complement(694)-g, adbSNP:150026242
complement(716)-g, cdbSNP:186567090
complement(778)-g, cdbSNP:370153031
816+a, gdbSNP:193302881
827+c, tdbSNP:193302887
838+a, tdbSNP:193302889
839+c, tdbSNP:193302882
840+a, gdbSNP:121908978
complement(869)-g, adbSNP:376965474
complement(898)-c, adbSNP:373540523
905+c, gdbSNP:193302894
906+dbSNP:
906+a, gdbSNP:193302877
complement(907)-c, adbSNP:202137454
919+a, cdbSNP:193302898
920+a, cdbSNP:193302884
complement(927)-g, adbSNP:374848317
complement(931)-t, cdbSNP:371347098
complement(940)-g, adbSNP:34123220
complement(949)-t, cdbSNP:375797089
complement(958)-g, adbSNP:372405501
959+a, gdbSNP:193302885
complement(961)-t, cdbSNP:368729564
complement(962)-c, adbSNP:375754042
complement(987)-t, cdbSNP:370839177
complement(999)-g, adbSNP:181879065
1011+c, tdbSNP:193302899
1020+a, gdbSNP:193302886
1044+a, gdbSNP:121908976
complement(1049)-c, adbSNP:375417499
complement(1056)-g, adbSNP:370727481
complement(1075)-t, gdbSNP:11552540
complement(1103)-g, adbSNP:191768893
1109+c, tdbSNP:80356489
complement(1129)-g, cdbSNP:137940481
complement(1134)-t, c, adbSNP:78735156
1155+dbSNP:
1155+a, cdbSNP:193302896
complement(1162)-g, adbSNP:377452076
1200+c, tdbSNP:193302879
1203+a, gdbSNP:193302892
1205+a, gdbSNP:193302883
1215+c, tdbSNP:193302890
complement(1224)-g, adbSNP:201036248
complement(1249)-t, gdbSNP:369399624
complement(1253)-g, adbSNP:11552539
complement(1254)-t, cdbSNP:186476316
complement(1279)-t, gdbSNP:369409989
complement(1281)-t, adbSNP:112232337
1283+c, tdbSNP:193302895
complement(1285)-c, adbSNP:56239500
complement(1288)-c, adbSNP:369276748
complement(1296)-g, cdbSNP:374991345
complement(1297)-g, adbSNP:371716153
1304+c, tdbSNP:193302893
complement(1324)-g, adbSNP:368678559
1329+c, tdbSNP:193302888
complement(1347)-t, cdbSNP:377180238
complement(1350)-t, adbSNP:34203644
complement(1360)-g, adbSNP:368398459
complement(1362)-c, adbSNP:375568910
complement(1385)-dbSNP:
complement(1385)-g, adbSNP:201101662
complement(1420)-t, cdbSNP:150083315
1443+c, tdbSNP:193302902
1460..1462+, gtgdbSNP:121908977
complement(1460)-c, adbSNP:141105181
complement(1488)-g, adbSNP:376299401
complement(1492)-g, adbSNP:185139377
1493+c, tdbSNP:193302878
complement(1568)-dbSNP:
complement(1568)-c, adbSNP:376569600
1590+a, tdbSNP:193302900
complement(1603)-g, adbSNP:372837897
complement(1606)-t, cdbSNP:369860234
complement(1629)-dbSNP:
complement(1629)-g, adbSNP:200147602
1655+c, tdbSNP:193302880
1656+a, gdbSNP:193302903
1659+a, cdbSNP:193302891
complement(1663)-t, gdbSNP:374287329
complement(1687)-g, adbSNP:148971334
complement(1712)-g, adbSNP:376730573
complement(1725)-g, adbSNP:202209699
complement(1748)-dbSNP:
complement(1748)-t, cdbSNP:201967384
complement(1769)-g, adbSNP:200662873
1772+g, tdbSNP:80356490
1773+a, gdbSNP:121908980
complement(1782)-g, adbSNP:371093860
1799..1800+, ctdbSNP:80356491
complement(1804)-g, adbSNP:368615623
complement(1819)-g, adbSNP:61730035
1820+g, tdbSNP:121908975
1856+a, gdbSNP:80356492
complement(1860)-g, adbSNP:370696612
1875+a, cdbSNP:193302901
1883+dbSNP:
1883+a, gdbSNP:193302897
complement(1885)-g, adbSNP:200713586
complement(1925)-g, adbSNP:199764888
1981+a, gdbSNP:8192696
complement(1997)-g, adbSNP:200703321
2000+c, tdbSNP:121908979
complement(2009)-g, adbSNP:376140990
complement(2032)-g, adbSNP:35010541
complement(2035)-t, cdbSNP:34871377
complement(2043)-t, gdbSNP:149974794
complement(2052)-t, gdbSNP:373050741
complement(2054)-c, adbSNP:369243698
2172+c, gdbSNP:8301
complement(2179)-t, cdbSNP:115522797
complement(2299)-t, gdbSNP:188906880
complement(2310)-g, adbSNP:183965171
complement(2344)-g, adbSNP:368215216
complement(2363)-g, adbSNP:191666810
complement(2382)-t, gdbSNP:139622859
complement(2465)-g, adbSNP:11006
complement(2568)-g, adbSNP:374644048
Gene SymbolSLC37A4
Gene SynonymG6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19
Chromosome11
Locus Map11q23.3
Title [Gene mutations and clinical manifestations in children with glycogen storage disease type Ib] .
Author Liang CL, Liu L, Sheng HY, Jiang MY, Yin X, Mei HF, Cheng J, Zhang
Journal Zhongguo Dang Dai Er Ke Za Zhi 15 (8), 661-665 (2013)
Title [Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China] .
Author Qiu ZQ, Lu CX, Wang W, Qiu JJ and Wei M.
Journal Zhonghua Er Ke Za Zhi 49 (3), 203-208 (2011)
Title Two new variants of G6PD deficiencies in Singapore .
Author Hamada M, Shirakawa T, Poh-San L, Nishiyama K, Uga S and Matsuo M.
Journal Nepal Med Coll J 12 (3), 137-141 (2010)
Title Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect .
Author Zappu A, Lilliu F, Podda RA and Loudianos G.
Journal Genet Test Mol Biomarkers 14 (3), 399-403 (2010)
Title A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic .
Author Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M and Van Schaftingen E.
Journal Am. J. Hum. Genet. 63 (4), 976-983 (1998)
Title The gene for glycogen-storage disease type 1b maps to chromosome 11q23 .
Author Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, Moses SW, Parvari R, Hershkovitz E, Mandel H, Fryman M and Chou JY.
Journal Am. J. Hum. Genet. 62 (2), 400-405 (1998)
Title Assignment1 of glucose 6-phosphate translocase (G6PT1) to human chromosome band 11q23.3 by in situ hybridization .
Author Ihara K, Takabayashi A, Terasaki K and Hara T.
Journal Cytogenet. Cell Genet. 83 (1-2), 50-51 (1998)
Title Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib .
Author Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF and Van Schaftingen E.
Journal FEBS Lett. 419 (2-3), 235-238 (1997)
Title Glycogen Storage Disease Type I .
Author Bali,D.S., Chen,Y.T. and Goldstein,J.L.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system .
Author Narisawa,K., Igarashi,Y., Otomo,H. and Tada,K.
Journal Biochem. Biophys. Res. Commun. 83 (4), 1360-1364 (1978)

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