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Database:

Blast Method:

 
 


Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001042351 Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_001042351.2, 544063454
Length 2295 bp
Structure linear
Update Date 26-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.
Product glucose-6-phosphate 1-dehydrogenase isoform b
Comment

Summary: This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (2) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.

RefSeq NP_001035810.1
CDS 128..1675
Misc Feature(1)131..133
Misc Feature(2)131..133
Misc Feature(3)215..1645
Misc Feature(4)230..757
Misc Feature(5)392..394
Misc Feature(6)638..640
Misc Feature(7)728..742
Misc Feature(8)761..1645
Misc Feature(9)1328..1330
Misc Feature(10)1328..1330
Misc Feature(11)1334..1336
Misc Feature(12)1421..1423
Misc Feature(13)1616..1618
Misc Feature(14)1634..1636
Misc Feature(15)1646..1648
Exon (1)1..119
Gene:G6PD
Gene Synonym:G6PD1
Exon (2)120..247
Gene:G6PD
Gene Synonym:G6PD1
Exon (3)248..285
Gene:G6PD
Gene Synonym:G6PD1
Exon (4)286..394
Gene:G6PD
Gene Synonym:G6PD1
Exon (5)395..612
Gene:G6PD
Gene Synonym:G6PD1
Exon (6)613..771
Gene:G6PD
Gene Synonym:G6PD1
Exon (7)772..897
Gene:G6PD
Gene Synonym:G6PD1
Exon (8)898..991
Gene:G6PD
Gene Synonym:G6PD1
Exon (9)992..1178
Gene:G6PD
Gene Synonym:G6PD1
Exon (10)1179..1414
Gene:G6PD
Gene Synonym:G6PD1
Exon (11)1415..1491
Gene:G6PD
Gene Synonym:G6PD1
Exon (12)1492..1584
Gene:G6PD
Gene Synonym:G6PD1
Exon (13)1585..2285
Gene:G6PD
Gene Synonym:G6PD1
Translation MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGL LPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQR LNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSS DRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEP FGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQA NNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGK ALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESEL DLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPI PYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL
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Position Chain Variation Link
complement(17)-dbSNP:
complement(17)-t, cdbSNP:111827785
complement(125)-dbSNP:
complement(125)-t, cdbSNP:373126405
160+c, gdbSNP:1050827
complement(215)-t, cdbSNP:367607992
222+a, gdbSNP:137852340
complement(225)-g, adbSNP:398123552
230..232+, atcdbSNP:137852338
complement(258)-dbSNP:
complement(258)-g, cdbSNP:78478128
299+dbSNP:
299+a, gdbSNP:137852315
complement(301)-t, g, c, adbSNP:77362384
complement(331)-g, adbSNP:78351852
335+c, tdbSNP:137852349
complement(337)-t, cdbSNP:79171965
complement(337)-t, cdbSNP:386626653
complement(356)-t, gdbSNP:11555344
complement(356)-c, adbSNP:386519205
complement(368)-g, adbSNP:138687036
complement(370)-g, adbSNP:77548451
complement(378)-t, cdbSNP:141830127
complement(438)-dbSNP:
complement(438)-t, cdbSNP:181277621
444+c, gdbSNP:267606835
464+a, gdbSNP:5030870
complement(465)-t, cdbSNP:370451233
complement(468)-t, cdbSNP:368618869
complement(501..502)-, cdbSNP:34233392
complement(510)-t, cdbSNP:78365220
519+g, tdbSNP:137852341
complement(568)-g, adbSNP:375189502
593+a, gdbSNP:137852313
complement(604)-g, cdbSNP:370918918
614+dbSNP:
614+a, gdbSNP:137852314
complement(616)-t, g, c, adbSNP:80149725
620+a, gdbSNP:137852331
644+c, tdbSNP:137852343
complement(646)-g, adbSNP:200111236
671+c, tdbSNP:267606836
672+c, gdbSNP:398123549
complement(681)-t, cdbSNP:375741735
complement(685)-g, adbSNP:373930823
complement(691)-g, adbSNP:200626353
complement(709)-g, cdbSNP:145247580
719+c, tdbSNP:137852330
720+a, c, gdbSNP:137852332
complement(721)-g, adbSNP:76999693
complement(724)-g, adbSNP:369516039
764+g, tdbSNP:137852326
775+dbSNP:
775+g, tdbSNP:137852319
802+c, gdbSNP:398123550
807+a, g, tdbSNP:137852328
complement(865)-g, adbSNP:144341068
complement(877)-g, adbSNP:140496395
complement(922)-t, cdbSNP:374222477
933+a, gdbSNP:137852346
complement(976)-g, adbSNP:192737996
complement(981)-g, adbSNP:386626654
complement(985)-g, adbSNP:370877714
complement(988)-t, cdbSNP:375948290
998+dbSNP:
998+a, gdbSNP:137852327
complement(1064)-t, cdbSNP:150589041
complement(1074)-t, cdbSNP:370017540
1076+a, gdbSNP:137852339
complement(1078)-g, adbSNP:75675507
complement(1078)-g, adbSNP:386626655
complement(1084)-g, adbSNP:199702562
1091+c, tdbSNP:137852347
1130+a, gdbSNP:5030869
complement(1132)-t, g, c, adbSNP:75090888
complement(1145)-t, cdbSNP:369603624
complement(1150)-g, adbSNP:201321423
1151+c, tdbSNP:137852342
complement(1153)-g, adbSNP:76368830
complement(1153)-g, adbSNP:386626656
1164+a, tdbSNP:398123544
complement(1175)-g, cdbSNP:34193178
1184+dbSNP:
1184+c, tdbSNP:137852333
complement(1186)-g, adbSNP:80280508
complement(1186)-g, adbSNP:386626657
complement(1195)-t, cdbSNP:368898047
1209+c, tdbSNP:137852345
complement(1211)-g, adbSNP:375809290
1216+a, cdbSNP:137852329
1229+a, gdbSNP:387906468
1243+a, gdbSNP:2230036
complement(1259)-t, cdbSNP:371489738
complement(1261)-g, adbSNP:200195961
complement(1273)-g, cdbSNP:138746997
complement(1279)-g, cdbSNP:368832453
1280+c, tdbSNP:137852322
1283+a, gdbSNP:137852320
1286+c, tdbSNP:137852334
1287+a, gdbSNP:137852321
1305+a, gdbSNP:137852316
1307+c, gdbSNP:137852335
1355+g, tdbSNP:137852323
1356+a, gdbSNP:137852336
complement(1367)-t, gdbSNP:201794043
complement(1372)-g, adbSNP:147131392
complement(1381)-t, cdbSNP:371808526
complement(1399)-g, adbSNP:186843026
1438+dbSNP:
1438+c, tdbSNP:2230037
1443+c, gdbSNP:137852337
complement(1456)-g, adbSNP:138919671
complement(1456)-g, adbSNP:386460956
1466+a, gdbSNP:137852317
complement(1483)-g, adbSNP:370808115
1487+c, tdbSNP:398123546
1488+a, gdbSNP:137852324
complement(1515)-dbSNP:
complement(1515)-t, cdbSNP:386626658
1525+c, tdbSNP:398123547
1527+c, gdbSNP:137852344
complement(1532)-g, adbSNP:369482861
complement(1558)-g, adbSNP:77214077
complement(1568)-g, adbSNP:202122673
1569+c, gdbSNP:137852348
complement(1570)-g, adbSNP:377659103
complement(1644)-g, cdbSNP:375285369
1722+a, gdbSNP:398123543
complement(1724)-g, adbSNP:368255747
complement(1725)-t, cdbSNP:201294737
complement(1737)-t, cdbSNP:111776132
complement(1741..1743)-, tccdbSNP:368538752
complement(1744..1746)-, tccdbSNP:201060739
complement(1806)-g, adbSNP:147551350
complement(1947)-t, cdbSNP:112950723
complement(1964)-g, adbSNP:191319738
complement(1979)-g, adbSNP:111485003
2032+a, gdbSNP:1050757
2045+a, gdbSNP:1063529
complement(2049)-g, adbSNP:372578185
complement(2086)-g, adbSNP:184987857
2143+a, gdbSNP:1050830
complement(2186)-t, cdbSNP:369905392
2206+c, tdbSNP:1050773
2208+c, tdbSNP:1050774
complement(2223)-g, adbSNP:181015082
2246+c, tdbSNP:1050831
complement(2272)-c, adbSNP:371565588
Gene SymbolG6PD
Gene SynonymG6PD1
ChromosomeX
Locus MapXq28
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000402 Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 1, mRNA. On-demand $699.00 18
NM_001042351 Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA. On-demand $699.00 18
XM_005274657 PREDICTED: Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant X1, mRNA. On-demand $699.00 18
XM_005274658 PREDICTED: Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant X2, mRNA. On-demand $699.00 18
Title Cloning, expression, purification and characterization of his-tagged human glucose-6-phosphate dehydrogenase: a simplified method for protein yield .
Author Gomez-Manzo S, Terron-Hernandez J, de la Mora-de la Mora I, Garcia-Torres I, Lopez-Velazquez G, Reyes-Vivas H and Oria-Hernandez J.
Journal Protein J. 32 (7), 585-592 (2013)
Title Starvation actively inhibits splicing of glucose-6-phosphate dehydrogenase mRNA via a bifunctional ESE/ESS element bound by hnRNP K .
Author Cyphert TJ, Suchanek AL, Griffith BN and Salati LM.
Journal Biochim. Biophys. Acta 1829 (9), 905-915 (2013)
Title Risk factors associated with unconjugated neonatal hyperbilirubinemia in Malaysian neonates .
Author Wong F, Boo N and Othman A.
Journal J. Trop. Pediatr. 59 (4), 280-285 (2013)
Title Proteome-wide dysregulation by glucose-6-phosphate dehydrogenase (G6PD) reveals a novel protective role for G6PD in aflatoxin B(1)-mediated cytotoxicity .
Author Lin HR, Wu CC, Wu YH, Hsu CW, Cheng ML and Chiu DT.
Journal J. Proteome Res. 12 (7), 3434-3448 (2013)
Title Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study .
Author Ding K, de Andrade M, Manolio TA, Crawford DC, Rasmussen-Torvik LJ, Ritchie MD, Denny JC, Masys DR, Jouni H, Pachecho JA, Kho AN, Roden DM, Chisholm R and Kullo IJ.
Journal G3 (Bethesda) 3 (7), 1061-1068 (2013)
Title New glucose-6-phosphate dehydrogenase mutations from various ethnic groups .
Author Beutler E, Westwood B, Prchal JT, Vaca G, Bartsocas CS and Baronciani L.
Journal Blood 80 (1), 255-256 (1992)
Title G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu-->Lys mutation .
Author Ahluwalia A, Corcoran CM, Vulliamy TJ, Ishwad CS, Naidu JM, Argusti A, Stevens DJ, Mason PJ and Luzzatto L.
Journal Hum. Mol. Genet. 1 (3), 209-210 (1992)
Title A novel C to T substitution at nucleotide 1360 of cDNA which abolishes a natural Hha I site accounts for a new G6PD deficiency gene in Chinese .
Author Perng LI, Chiou SS, Liu TC and Chang JG.
Journal Hum. Mol. Genet. 1 (3), 205 (1992)
Title Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393 Arg----His) with abnormal KmG6P and marked in vivo instability .
Author Filosa S, Calabro V, Vallone D, Poggi V, Mason P, Pagnini D, Alfinito F, Rotoli B, Martini G and Luzzatto L.
Journal Br. J. Haematol. 80 (1), 111-116 (1992)
Title Glucose 6-phosphate dehydrogenase activity in membranes of erythrocytes from normal individuals and subjects with Mediterranean G6PD deficiency .
Author Benatti,U., Morelli,A., Frascio,M., Melloni,E., Salamino,F., Sparatore,B., Pontremoli,S. and De Flora,A.
Journal Biochem. Biophys. Res. Commun. 85 (4), 1318-1324 (1978)

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