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


RefSeq Accession Definition Services Price Order
NM_001164277 Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 1, mRNA. ORF Sequence $374.10
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RefSeq Version NM_001164277.1, 256219482
Length 2621 bp
Structure linear
Update Date 17-APR-2013
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(575)-dbSNP:
complement(575)-g, adbSNP:145369754
complement(647)-t, cdbSNP:189829762
complement(694)-g, adbSNP:150026242
complement(716)-g, cdbSNP:186567090
complement(816)-g, adbSNP:193302881
complement(827)-t, cdbSNP:193302887
complement(838)-t, adbSNP:193302889
complement(839)-t, cdbSNP:193302882
complement(840)-g, adbSNP:121908978
complement(905)-g, cdbSNP:193302894
complement(906)-dbSNP:
complement(906)-g, adbSNP:193302877
complement(907)-c, adbSNP:202137454
complement(919)-c, adbSNP:193302898
complement(920)-c, adbSNP:193302884
complement(940)-g, adbSNP:34123220
complement(959)-g, adbSNP:193302885
complement(999)-g, adbSNP:181879065
complement(1011)-t, cdbSNP:193302899
complement(1020)-g, adbSNP:193302886
complement(1044)-g, adbSNP:121908976
complement(1075)-t, gdbSNP:11552540
complement(1103)-g, adbSNP:191768893
complement(1109)-t, cdbSNP:80356489
complement(1129)-g, cdbSNP:137940481
complement(1134)-c, adbSNP:78735156
complement(1155)-dbSNP:
complement(1155)-c, adbSNP:193302896
complement(1200)-t, cdbSNP:193302879
complement(1203)-g, adbSNP:193302892
complement(1205)-g, adbSNP:193302883
complement(1215)-t, cdbSNP:193302890
complement(1224)-g, adbSNP:201036248
complement(1253)-g, adbSNP:11552539
complement(1254)-t, cdbSNP:186476316
complement(1281)-t, adbSNP:112232337
complement(1283)-t, cdbSNP:193302895
complement(1284)-, cdbSNP:56966114
complement(1284)-c, adbSNP:5795159
complement(1284)-c, adbSNP:78926978
complement(1285)-c, adbSNP:56239500
complement(1304)-t, cdbSNP:193302893
complement(1329)-t, cdbSNP:193302888
complement(1350)-t, adbSNP:34203644
complement(1385)-dbSNP:
complement(1385)-g, adbSNP:201101662
complement(1420)-t, cdbSNP:150083315
complement(1443)-t, cdbSNP:193302902
complement(1460..1462)-, gtgdbSNP:121908977
complement(1460)-c, adbSNP:141105181
complement(1492)-g, adbSNP:185139377
complement(1493)-t, cdbSNP:193302878
complement(1590)-dbSNP:
complement(1590)-t, adbSNP:193302900
complement(1629)-dbSNP:
complement(1629)-g, adbSNP:200147602
complement(1655)-t, cdbSNP:193302880
complement(1656)-g, adbSNP:193302903
complement(1659)-c, adbSNP:193302891
complement(1687)-g, adbSNP:148971334
complement(1725)-g, adbSNP:202209699
complement(1748)-dbSNP:
complement(1748)-t, cdbSNP:201967384
complement(1769)-g, adbSNP:200662873
complement(1772)-t, gdbSNP:80356490
complement(1773)-g, adbSNP:121908980
complement(1799..1800)-, ctdbSNP:80356491
complement(1819)-g, adbSNP:61730035
complement(1820)-t, gdbSNP:121908975
complement(1856)-g, adbSNP:80356492
complement(1875)-c, adbSNP:193302901
complement(1883)-dbSNP:
complement(1883)-g, adbSNP:193302897
complement(1885)-g, adbSNP:200713586
complement(1925)-g, adbSNP:199764888
complement(1981)-g, adbSNP:8192696
complement(1997)-g, adbSNP:200703321
complement(2000)-t, cdbSNP:121908979
complement(2032)-g, adbSNP:35010541
complement(2035)-t, cdbSNP:34871377
complement(2043)-t, gdbSNP:149974794
complement(2172)-g, cdbSNP:8301
complement(2179)-t, cdbSNP:115522797
complement(2299)-t, gdbSNP:188906880
complement(2310)-g, adbSNP:183965171
complement(2363)-g, adbSNP:191666810
complement(2382)-t, gdbSNP:139622859
complement(2465)-g, adbSNP:11006
Gene SymbolSLC37A4
Gene SynonymG6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19
Chromosome11
Locus Map11q23.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001164277 Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 1, mRNA. Full Length $760.09
ORF Sequence $374.10
NM_001164278 Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 2, mRNA. Full Length $687.59
ORF Sequence $393.24
NM_001164279 Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 3, mRNA. Full Length $593.63
ORF Sequence $310.59
NM_001164280 Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 5, mRNA. Full Length $598.27
ORF Sequence $374.10
NM_001467 Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 4, mRNA. Full Length $613.93
ORF Sequence $374.10
Title [Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China] .
Author Qiu,Z.Q., Lu,C.X., Wang,W., Qiu,J.J. 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,R.A. and Loudianos,G.
Journal Genet Test Mol Biomarkers 14 (3), 399-403 (2010)
Title Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib .
Author Pan,C.J., Chen,S.Y., Lee,S. and Chou,J.Y.
Journal Mol. Genet. Metab. 96 (1), 32-37 (2009)
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,Y.T., de Barsy,T., de Lonlay,P., Dionisi-Vici,C., Fenske,C.D., Lee,P.J., Leonard,J.V., Maire,I., McConkie-Rosell,A., Schweitzer,S., Vikkula,M. and Van Schaftingen,E.
Journal Am. J. Hum. Genet. 63 (4), 976-983 (1998)
Title Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q .
Author Fenske,C.D., Jeffery,S., Weber,J.L., Houlston,R.S., Leonard,J.V. and Lee,P.J.
Journal J. Med. Genet. 35 (4), 269-272 (1998)
Title The gene for glycogen-storage disease type 1b maps to chromosome 11q23 .
Author Annabi,B., Hiraiwa,H., Mansfield,B.C., Lei,K.J., Ubagai,T., Polymeropoulos,M.H., Moses,S.W., Parvari,R., Hershkovitz,E., Mandel,H., Fryman,M. and Chou,J.Y.
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,J.F. and Van Schaftingen,E.
Journal FEBS Lett. 419 (2-3), 235-238 (1997)
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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