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H-Invitational ID: HIT000029531 Accession number: BC000337 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Glucose-6-phosphate 1-dehydrogenase; G6PD; EC=1.1.1.49;
 
 

Transcript original information
Accession number BC000337.2
CAGE tag ID NA
EST ID NA
Clone Number MGC:8534 IMAGE:2822640
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (G6PD) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (G6PD);
Sequence data provider Provider:MGC/NCI
Annotation project H-Invitational FLcDNA
Length of cDNA 2230[bp] (No. of exon:13)[A:487 T:390 G:622 C:731]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Lung, small cell carcinoma
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 2211(+) Signal: 2192-2196(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) CAGCAG; 
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0203292
Genomic location  G-integra Help Chromosome X
Location Xq28
Position 153759606- 153775048
Strand -
Possible duplicated location(s) NA
Gene structure 13 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:2539
KEGG GENES KEGG GENES(2539)
GeneCard GeneCardG6PD*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000026239
Predicted CDS 54..1601;  515[aa];  Orientation:+3; 
Codon Adaptation Index (CAI). 0.885
Database links RefSeq NP_001035810
UniProt P11413
CCDS CCDS44023

Motif information
ORF

length(515),orf(54:1601)
MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYP
TIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLED
FFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAV
TKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRID
HYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYF
DEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQA
NNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWD
GVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAV
YTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQM
HFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVG
FQYEGTYKWVNPHKL*
a.a.
length
InterPro Name
length(514), motif(1:514) 514 IPR001282 Glucose-6-phosphate dehydrogenase [Family]
length(181), motif(29:209) 181 IPR016040 NAD(P)-binding domain [Domain]
length(474), motif(31:504) 474 IPR001282 Glucose-6-phosphate dehydrogenase [Family]
length(176), motif(35:210) 176 IPR022674 Glucose-6-phosphate dehydrogenase, NAD-binding [Domain]
length(14), motif(166:179) 14 IPR001282 Glucose-6-phosphate dehydrogenase [Family]
length(29), motif(190:218) 29 IPR001282 Glucose-6-phosphate dehydrogenase [Family]
length(7), motif(200:206) 7 IPR019796 Glucose-6-phosphate dehydrogenase, active site [Active_site]
length(293), motif(212:504) 293 IPR022675 Glucose-6-phosphate dehydrogenase, C-terminal [Domain]
length(18), motif(242:259) 18 IPR001282 Glucose-6-phosphate dehydrogenase [Family]
length(17), motif(260:276) 17 IPR001282 Glucose-6-phosphate dehydrogenase [Family]
length(27), motif(348:374) 27 IPR001282 Glucose-6-phosphate dehydrogenase [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000029531
H-Inv cluster ID Locus viewHIX0203292
Accession number BC000337.2
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Glucose-6-phosphate 1-dehydrogenase; G6PD; EC=1.1.1.49;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (P11413)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 13031801303182153679816110911874446188982019458932428611275846828368672910917291206930125563126064339353634465823515319669676178255907857286785826779596958193373836458484666448490627853376287331359452072106271401074501311112389118577371252435412665801154893341577265118669648196088612000790121269460ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol G6PD
HGNC aliases NA
HGNC name glucose-6-phosphate dehydrogenase
DDBJ G6PD
UniProt G6PD
EC number EC 1.1.1.49glucose-6-phosphate dehydrogenase; 
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway 00030 :Pentose phosphate pathway;  00480 :Glutathione metabolism; 
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000026239
No. of interaction 28
Interaction partner(s) HIP000032894HIP000039355HIP000040680HIP000055732HIP000057536HIP000059026HIP000060601HIP000064456HIP000065273HIP000066354HIP000066873HIP000067572HIP000077986HIP000083727HIP000085195HIP000090509HIP000091500HIP000094365HIP000102520HIP000108636HIP000108912HIP000115737HIP000117036HIP000117036HIP000163891HIP000192131HIP000339400HIP000435860
BIND NA
DIP NA
MINT MINT-8142240;  MINT-8142253; 
HPRD 09076;  10584; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:2539
KEGG GENES KEGG GENES(2539)
GeneCard GeneCardG6PD*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Human curated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Molecular function NADP binding (GO:0050661);  glucose-6-phosphate 1-dehydrogenase activity (GO:0004345); 
Biological process glucose metabolic process (GO:0006006); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT cytosol;  nuclear;  peroxisome;  Other; 
Target P Other
SOSUI soluble protein
TMHMM soluble protein
PTS1 Targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
27 213 1qkiA1 2e-63 94.6 185/191 c.2.1.3
200 511 1qkiA2 e-152 99.7 297/297 d.81.1.5
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsA011407; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 202275_at; 
HG-U133A 202275_at; 
HG-U133A_2 202275_at; 
HG-U133B NA
HG-U133_Plus_2 202275_at; 
HG-U95 NA
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3996550;  4027417;  4027418;  4027419;  4027420;  4027421;  4027422;  4027424;  4027425;  4027427;  4027429;  4027430;  4027431;  4027432;  4027433;  4027434;  4027440;  4027441;  4027443;  4027444;  4027447;  4027448; 
HuGeneFL X55448_cds1_s_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P34093; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P34093; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name:NA
Related information in OMIM OMIM ID:  305900;  Title: GLUCOSE-6-PHOSPHATE DEHYDROGENASE
Co-localized orphan diseases NA
Disease related mutation NA
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(2539)
Disease Entrez Gene ID:(2539)
Substance Entrez Gene ID:(2539)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Evolutionary information  Evola Help Last modified:27-May-2015
Relationship Species Accession number MGI Links
Orthology Oryzias sp. (Medaka) AB111384 G-integraG-integra
Orthology Mus sp. (Mouse) BC075663 MGI:105979 G-integraG-integra
Orthology Rattus sp. (Rat) BC081820 G-integraG-integra
Orthology Tetraodon sp. (Tetraodon) CR727791 G-integraG-integra
Orthology Oryzias sp. (Medaka) ENSORLT00000015543 G-integraG-integra
Orthology Pongo sp. (Orangutan) ENSPPYT00000024358 G-integraG-integra
Orthology Rattus sp. (Rat) ENSRNOT00000057468 G-integraG-integra
Orthology Tetraodon sp. (Tetraodon) GSTENT00023666001 G-integraG-integra
Orthology Takifugu sp. (Fugu) SINFRUT00000143893 G-integraG-integra
Orthology Takifugu sp. (Fugu) SINFRUT00000161861 G-integraG-integra
Orthology Macaca sp. (Macaque) XM_001095273 G-integraG-integra
Orthology Pan sp. (Chimpanzee) XM_001146640 G-integraG-integra
Orthology Monodelphis sp. (Opossum) XM_001362790 G-integraG-integra
Orthology Equus sp. (Horse) XM_001492232 G-integraG-integra
Orthology Danio sp. (Zebrafish) XM_001922818 G-integraG-integra
Orthology Canis sp. (Dog) XM_538209 G-integraG-integra
Orthology Danio sp. (Zebrafish) XM_694076 G-integraG-integra
Phylogenetic tree [View by ATV]
Neighbor-joining (phb) 
Related H-InvDB links EvolaEvoladN/dS (under constraction); 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
74 .. 74 G/C rs150757632 - CDS Synonymous[Leu7Leu]
86 .. 86 G/C rs1050827 + CDS Nonsynonymous[Gln11His]
148 .. 148 A/G rs137852340 + CDS Nonsynonymous[His32Arg]
184 .. 184 C/G rs78478128 - CDS Nonsynonymous[Ala44Gly]
196 .. 196 T/A/C/G rs76645461 + CDS
225 .. 225 G/A rs137852315 + CDS Nonsynonymous[Asp58Asn]
246 .. 246 A/G rs199474830 + CDS Nonsynonymous[Thr65Ala]
255 .. 255 G/A rs1050828 + CDS Nonsynonymous[Val68Met]
257 .. 257 G/A rs78351852 + CDS Synonymous[Val68Val]
261 .. 261 T/C rs137852349 + CDS Nonsynonymous[Tyr70His]
263 .. 263 T/C rs79171965 + CDS Synonymous[Tyr70Tyr]
282 .. 282 G/T rs11555344 + CDS Nonsynonymous[Val77Leu]
294 .. 294 C/T rs138687036 - CDS Nonsynonymous[Arg81Cys]
296 .. 296 C/T rs77548451 - CDS Synonymous[Arg81Arg]
297 .. 297 A/C rs147108248 - CDS Nonsynonymous[Lys82Gln]
304 .. 304 G/A rs141830127 - CDS Nonsynonymous[Ser84Asn]
364 .. 364 G/A rs181277621 - CDS Nonsynonymous[Arg104His]
390 .. 390 G/A rs5030870 + CDS Nonsynonymous[Asp113Asn]
427 ^ 428 -/G rs34233392 - CDS
429 .. 429 A/G rs1050829 + CDS Nonsynonymous[Asn126Asp]
436 .. 436 T/C rs78365220 + CDS Nonsynonymous[Leu128Pro]
445 .. 445 G/T rs137852341 + CDS Nonsynonymous[Gly131Val]
519 .. 519 G/A rs137852313 + CDS Nonsynonymous[Glu156Lys]
540 .. 540 G/A rs137852314 + CDS Nonsynonymous[Gly163Ser]
546 .. 546 A/G rs137852331 + CDS Nonsynonymous[Asn165Asp]
570 .. 570 T/C rs137852343 + CDS Nonsynonymous[Phe173Leu]
572 .. 572 C/T rs200111236 - CDS Synonymous[Phe173Phe]
589 .. 589 G/A rs281860640 + CDS Nonsynonymous[Ser179Asn]
595 .. 595 A/T rs5030872 + CDS Nonsynonymous[Asp181Val]
616 .. 616 C/T rs5030868 + CDS Nonsynonymous[Ser188Phe]
617 .. 617 C/T rs200626353 - CDS Synonymous[Ser188Ser]
635 .. 635 C/G rs145247580 - CDS Nonsynonymous[Asp194Glu]
645 .. 645 C/T rs137852330 + CDS Nonsynonymous[Arg198Cys]
646 .. 646 G/A/C rs137852332 + CDS
647 .. 647 C/T rs76999693 - CDS Synonymous[Arg198Arg]
690 .. 690 G/T rs137852326 + CDS Nonsynonymous[Val213Leu]
701 .. 701 T/G rs137852319 + CDS Nonsynonymous[Phe216Leu]
733 .. 733 G/A/T rs137852328 + CDS
791 .. 791 C/T rs144341068 - CDS Synonymous[Arg246Arg]
803 .. 803 C/T rs140496395 - CDS Synonymous[Phe250Phe]
839 .. 839 C/T rs146778400 - CDS Synonymous[Asn262Asn]
859 .. 859 G/A rs137852346 + CDS Nonsynonymous[Cys269Tyr]
897 .. 897 G/C rs137852318 + CDS Nonsynonymous[Asp282His]
902 .. 902 C/T rs192737996 - CDS Synonymous[Asp283Asp]
907 .. 907 G/A rs74575103 + CDS Nonsynonymous[Arg285His]
924 .. 924 G/A rs137852327 + CDS Nonsynonymous[Val291Met]
990 .. 990 G/A rs150589041 - CDS Nonsynonymous[Asp313Asn]
1002 .. 1002 G/A rs137852339 + CDS Nonsynonymous[Glu317Lys]
1004 .. 1004 G/A rs75675507 + CDS Synonymous[Glu317Glu]
1010 .. 1010 C/T rs199702562 - CDS Synonymous[Thr319Thr]
1017 .. 1017 T/C rs137852347 + CDS Nonsynonymous[Tyr322His]
1021 .. 1021 T/C rs76723693 + CDS Nonsynonymous[Leu323Pro]
1056 .. 1056 G/A rs5030869 + CDS Nonsynonymous[Ala335Thr]
1076 .. 1076 C/T rs201321423 - CDS Synonymous[Val341Val]
1077 .. 1077 C/T rs137852342 + CDS Nonsynonymous[Leu342Phe]
1079 .. 1079 C/T rs76368830 - CDS Synonymous[Leu342Leu]
1101 .. 1101 G/C rs34193178 + CDS Nonsynonymous[Asp350His]
1110 .. 1110 C/T rs137852333 + CDS Nonsynonymous[Pro353Ser]
1112 .. 1112 C/T rs80280508 - CDS Synonymous[Pro353Pro]
1135 .. 1135 C/T rs137852345 + CDS Nonsynonymous[Ala361Val]
1142 .. 1142 C/A rs137852329 + CDS Nonsynonymous[Asn363Lys]
1169 .. 1169 G/A rs2230036 + CDS Synonymous[Gln372Gln]
1187 .. 1187 C/T rs200195961 - CDS Synonymous[Gly378Gly]
1199 .. 1199 C/G rs138746997 - CDS Nonsynonymous[His382Gln]
1206 .. 1206 T/C rs137852322 + CDS Nonsynonymous[Cys385Arg]
1209 .. 1209 A/G rs137852320 + CDS Nonsynonymous[Lys386Glu]
1212 .. 1212 C/T rs137852334 + CDS Nonsynonymous[Arg387Cys]
1213 .. 1213 G/A rs137852321 + CDS Nonsynonymous[Arg387His]
1231 .. 1231 G/A rs137852316 + CDS Nonsynonymous[Arg393His]
1233 .. 1233 G/C rs137852335 + CDS Nonsynonymous[Val394Leu]
1245 .. 1245 G/A rs137852325 + CDS Nonsynonymous[Glu398Lys]
1281 .. 1281 G/T rs137852323 + CDS Nonsynonymous[Gly410Cys]
1282 .. 1282 G/A rs137852336 + CDS Nonsynonymous[Gly410Asp]
1293 .. 1293 A/C rs201794043 - CDS Nonsynonymous[Asn414His]
1298 .. 1298 C/T rs147131392 - CDS Synonymous[Pro415Pro]
1325 .. 1325 C/T rs186843026 - CDS Synonymous[Tyr424Tyr]
1364 .. 1364 T/C rs2230037 + CDS Synonymous[Tyr437Tyr]
1369 .. 1369 G/C rs137852337 + CDS Nonsynonymous[Arg439Pro]
1382 .. 1382 C/T rs138919671 - CDS Synonymous[Asp443Asp]
1392 .. 1392 G/A rs137852317 + CDS Nonsynonymous[Gly447Arg]
1414 .. 1414 G/A rs137852324 + CDS Nonsynonymous[Arg454His]
1429 .. 1429 G/C/T rs72554665 + CDS
1441 .. 1441 G/A rs72554664 + CDS Nonsynonymous[Arg463His]
1453 .. 1453 C/G rs137852344 + CDS Nonsynonymous[Pro467Arg]
1484 .. 1484 C/T rs77214077 - CDS Synonymous[Pro477Pro]
1494 .. 1494 C/T rs202122673 - CDS Nonsynonymous[Pro481Ser]
1495 .. 1495 C/G rs137852348 + CDS Nonsynonymous[Pro481Arg]
1651 .. 1651 G/A rs201294737 - 3'UTR
1663 .. 1663 G/A rs111776132 - 3'UTR
1732 .. 1732 C/T rs147551350 - 3'UTR
1873 .. 1873 G/A rs112950723 - 3'UTR
1890 .. 1890 C/T rs191319738 - 3'UTR
1905 .. 1905 T/C rs111485003 - 3'UTR
1958 .. 1958 G/A rs1050757 + 3'UTR
1971 .. 1971 G/A rs1063529 + 3'UTR
2012 .. 2012 C/T rs184987857 - 3'UTR
2069 .. 2069 G/A rs1050830 + 3'UTR
2132 .. 2132 C/T rs1050773 + 3'UTR
2134 .. 2134 C/T rs1050774 + 3'UTR
2149 .. 2149 C/T rs181015082 - 3'UTR
2172 .. 2172 C/T rs1050831 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer