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UniProtKB/Swiss-Prot entry P11413


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Entry information
Entry name G6PD_HUMAN
Primary accession number P11413
Secondary accession numbers Q16000 Q16765 Q8IU70 Q8IU88 Q8IUA6 Q96PQ2
Integrated into Swiss-Prot on October 1, 1989
Sequence was last modified on July 15, 1998 (Sequence version 2)
Annotations were last modified on    April 18, 2006 (Entry version 89)
Name and origin of the protein
Protein name Glucose-6-phosphate 1-dehydrogenase
Synonyms EC 1.1.1.49
G6PD
Gene name
Name:  G6PD
From
Homo sapiens (Human)  [TaxID: 9606]  
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
PubMed=3515319 [NCBI, ExPASy, EBI, Israel, Japan]
Persico M.G., Viglietto G., Martini G., Toniolo D., Paonessa G., Moscatelli C., Dono R., Vulliamy T.J., Luzzatto L., D'Urso M.;
"Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region.";
Nucleic Acids Res. 14:2511-2522(1986).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT).
PubMed=2428611 [NCBI, ExPASy, EBI, Israel, Japan]
Martini G., Toniolo D., Vulliamy T., Luzzatto L., Dono R., Viglietto G., Paonessa G., D'Urso M., Persico M.G.;
"Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase.";
EMBO J. 5:1849-1855(1986).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT).
PubMed=1889820 [NCBI, ExPASy, EBI, Israel, Japan]
Chen E.Y., Cheng A., Lee A., Kuang W., Hillier L., Green P., Schlessinger D., Ciccodicola A., D'Urso M.;
"Sequence of human glucose-6-phosphate dehydrogenase cloned in plasmids and a yeast artificial chromosome.";
Genomics 10:792-800(1991).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT).
DOI=10.1093/hmg/5.5.659; PubMed=8733135 [NCBI, ExPASy, EBI, Israel, Japan]
Chen E.Y., Zollo M., Mazzarella R.A., Ciccodicola A., Chen C.-N., Zuo L., Heiner C., Burough F.W., Ripetto M., Schlessinger D., D'Urso M.;
"Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.";
Hum. Mol. Genet. 5:659-668(1996).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT).
Galgoczy P., Platzer M.;
Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
TISSUE=Lung;
DOI=10.1073/pnas.242603899; PubMed=12477932 [NCBI, ExPASy, EBI, Israel, Japan]
Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G., Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D., Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K., Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F., Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L., Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E., Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C., Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J., Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H., Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W., Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A., Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G., Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C., Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E., Schnerch A., Schein J.E., Jones S.J.M. , Marra M.A.;
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.";
Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002).
[7]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-70.
DOI=10.1016/0092-8674(89)90440-6; PubMed=2758468 [NCBI, ExPASy, EBI, Israel, Japan]
Kanno H., Huang I.Y., Kan Y.W., Yoshida A.;
"Two structural genes on different chromosomes are required for encoding the major subunit of human red cell glucose-6-phosphate dehydrogenase.";
Cell 58:595-606(1989).
[8]
NUCLEOTIDE SEQUENCE OF 1-70.
PubMed=8466644 [NCBI, ExPASy, EBI, Israel, Japan]
Kanno H., Kondoh T., Yoshida A.;
"5' structure and expression of human glucose-6-phosphate dehydrogenase mRNA.";
DNA Cell Biol. 12:209-215(1993).
[9]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-40.
DOI=10.1016/0378-1119(91)90078-P; PubMed=1874446 [NCBI, ExPASy, EBI, Israel, Japan]
Toniolo D., Filippi M., Dono R., Lettieri T., Martini G.;
"The CpG island in the 5' region of the G6PD gene of man and mouse.";
Gene 102:197-203(1991).
[10]
PROTEIN SEQUENCE OF 1-8.
TISSUE=Platelet;
DOI=10.1038/nbt810; PubMed=12665801 [NCBI, ExPASy, EBI, Israel, Japan]
Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J.;
"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.";
Nat. Biotechnol. 21:566-569(2003).
[11]
NUCLEOTIDE SEQUENCE OF 40-514 (ISOFORM SHORT), AND VARIANTS MET-67 AND ASP-125.
PubMed=12524354 [NCBI, ExPASy, EBI, Israel, Japan]
Saunders M.A., Hammer M.F., Nachman M.W.;
"Nucleotide variability at G6pd and the signature of malarial selection in humans.";
Genetics 162:1849-1861(2002).
[12]
NUCLEOTIDE SEQUENCE OF 153-514 (ISOFORM SHORT).
PubMed=3012556 [NCBI, ExPASy, EBI, Israel, Japan]
Takizawa T., Huang I.-Y., Ikuta T., Yoshida A.;
"Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning.";
Proc. Natl. Acad. Sci. U.S.A. 83:4157-4161(1986).
[13]
PROTEIN SEQUENCE OF 198-214.
PubMed=3126064 [NCBI, ExPASy, EBI, Israel, Japan]
Camardella L., Caruso C., Rutigliano B., Romano M., di Prisco G., Descalzi-Cancedda F.;
"Human erythrocyte glucose-6-phosphate dehydrogenase. Identification of a reactive lysyl residue labelled with pyridoxal 5'-phosphate.";
Eur. J. Biochem. 171:485-489(1988).
[14]
PROTEIN SEQUENCE OF 508-514.
PubMed=6696761 [NCBI, ExPASy, EBI, Israel, Japan]
Descalzi-Cancedda F., Caruso C., Romano M., di Prisco G., Camardella L.;
"Amino acid sequence of the carboxy-terminal end of human erythrocyte glucose-6-phosphate dehydrogenase.";
Biochem. Biophys. Res. Commun. 118:332-338(1984).
[15]
ALTERNATIVE SPLICING.
PubMed=2910917 [NCBI, ExPASy, EBI, Israel, Japan]
Hirono A., Beutler E.;
"Alternative splicing of human glucose-6-phosphate dehydrogenase messenger RNA in different tissues.";
J. Clin. Invest. 83:343-346(1989).
[16]
ACETYLATION SITE ALA-1, AND MASS SPECTROMETRY.
PubMed=7857286 [NCBI, ExPASy, EBI, Israel, Japan]
Camardella L., Damonte G., Carratore V., Benatti U., Tonetti M., Moneti G.;
"Glucose 6-phosphate dehydrogenase from human erythrocytes: identification of N-acetyl-alanine at the N-terminus of the mature protein.";
Biochem. Biophys. Res. Commun. 207:331-338(1995).
[17]
REVIEW ON VARIANTS.
PubMed=8364584 [NCBI, ExPASy, EBI, Israel, Japan]
Vulliamy T., Beutler E., Luzzatto L.;
"Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.";
Hum. Mutat. 2:159-167(1993).
[18]
PHOSPHORYLATION SITE TYR-400, AND MASS SPECTROMETRY.
DOI=10.1038/nbt1046; PubMed=15592455 [NCBI, ExPASy, EBI, Israel, Japan]
Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J.;
"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.";
Nat. Biotechnol. 23:94-101(2005).
[19]
X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF VARIANT CANTON IN COMPLEX WITH NADP, AND HOMOTETRAMERIZATION.
DOI=10.1016/S0969-2126(00)00104-0; PubMed=10745013 [NCBI, ExPASy, EBI, Israel, Japan]
Au S.W., Gover S., Lam V.M., Adams M.J.;
"Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency.";
Structure 8:293-303(2000).
[20]
REVIEW ON VARIANTS.
DOI=10.1002/humu.10036; PubMed=11857737 [NCBI, ExPASy, EBI, Israel, Japan]
Kwok C.J., Martin A.C., Au S.W., Lam V.M.;
"G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations.";
Hum. Mutat. 19:217-224(2002).
[21]
VARIANT A(+) ASP-125.
PubMed=3446582 [NCBI, ExPASy, EBI, Israel, Japan]
Takizawa T., Yoneyama Y., Miwa S., Yoshida A.;
"A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+).";
Genomics 1:228-231(1987).
[22]
VARIANT A(-) MET-67.
PubMed=2836867 [NCBI, ExPASy, EBI, Israel, Japan]
Hirono A., Beutler E.;
"Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-).";
Proc. Natl. Acad. Sci. U.S.A. 85:3951-3954(1988).
[23]
VARIANTS.
PubMed=3393536 [NCBI, ExPASy, EBI, Israel, Japan]
Vulliamy T.J., D'Urso M., Battistuzzi G., Estrada M., Foulkes N.S., Martini G., Calabro V., Poggi V., Giordano R., Town M., Luzzatto L., Persico M.G.;
"Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.";
Proc. Natl. Acad. Sci. U.S.A. 85:5171-5175(1988).
[24]
VARIANTS GLN-226 AND SER-352, AND VARIANTS CNSHA CYS-386; LEU-393; ASP-409 AND PRO-438.
PubMed=1611091 [NCBI, ExPASy, EBI, Israel, Japan]
Beutler E., Westwood B., Prchal J.T., Vaca C.S., Bartsocas C.S., Baronciani L.;
"New glucose-6-phosphate dehydrogenase mutations from various ethnic groups.";
Blood 80:255-256(1992).
[25]
VARIANTS SASSARI/CAGLIARI PHE-187 AND SEATTLE HIS-281.
PubMed=2912069 [NCBI, ExPASy, EBI, Israel, Japan]
de Vita G., Alcalay M., Sampietro M., Cappelini M.D., Fiorelli G., Toniolo D.;
"Two point mutations are responsible for G6PD polymorphism in Sardinia.";
Am. J. Hum. Genet. 44:233-240(1989).
[26]
VARIANT CSNA ARG-31.
PubMed=1945893 [NCBI, ExPASy, EBI, Israel, Japan]
Chao L.T., Du C.S., Louie E., Zuo L., Chen E., Lubin B., Chiu D.T.;
"A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese.";
Nucleic Acids Res. 19:6056-6056(1991).
[27]
VARIANT NASHVILLE/ANAHEIM HIS-392.
PubMed=1536798 [NCBI, ExPASy, EBI, Israel, Japan]
Filosa S., Calabro V., Vallone D., Poggi V., Mason P., Pagnini D., Alfinito F., Rotoli B., Martini G., Luzzatto L., Battistuzzi G.;
"Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393arg-to-his) with abnormal K(m) G6P and marked in vivo instability.";
Br. J. Haematol. 80:111-116(1992).
[28]
VARIANT CHINESE-2/MAEWO CYS-453.
PubMed=1303180 [NCBI, ExPASy, EBI, Israel, Japan]
Perng L.-I., Chiou S.-S., Liu T.-C., Chang J.-G.;
"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.";
Hum. Mol. Genet. 1:205-205(1992).
[29]
VARIANT KALYAN/KERALA LYS-316.
PubMed=1303182 [NCBI, ExPASy, EBI, Israel, Japan]
Ahluwalia A., Corcoran C.M., Vulliamy T.J., Ishwad C.S., Naidu J.M., Stevens D.J., Mason P.J., Luzzatto L.;
"G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu-->Lys mutation.";
Hum. Mol. Genet. 1:209-210(1992).
[30]
VARIANT AURES THR-47.
PubMed=8490627 [NCBI, ExPASy, EBI, Israel, Japan]
Nafa K., Reghis A., Osmani N., Baghli L., Benabadji M., Kaplan J.-C., Vulliamy T.J., Luzzatto L.;
"G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism.";
Hum. Mol. Genet. 2:81-82(1993).
[31]
VARIANT SHINSHU GLY-175.
PubMed=8193373 [NCBI, ExPASy, EBI, Israel, Japan]
Hirono A., Miwa S., Fujii H., Ishida F., Yamada K., Kubota K.;
"Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis.";
Blood 83:3363-3368(1994).
[32]
VARIANT BARI LEU-395.
DOI=10.1007/BF00211027; PubMed=7959695 [NCBI, ExPASy, EBI, Israel, Japan]
Filosa S., Cai W., Galanello R., Cao A., de Mattia D., Schettini F., Martini G.;
"A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia.";
Hum. Genet. 94:560-562(1994).
[33]
VARIANTS NAMORU; VANUA LAVA; NAONE AND UNION.
PubMed=7825590 [NCBI, ExPASy, EBI, Israel, Japan]
Ganczakowski M., Town M., Bowden D.K., Vulliamy T.J., Kaneko A., Clegg J.B., Weatherall D.J., Luzzatto L.;
"Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific).";
Am. J. Hum. Genet. 56:294-301(1995).
[34]
VARIANT ORISSA GLY-43.
PubMed=8533762 [NCBI, ExPASy, EBI, Israel, Japan]
Kaeda J.S., Chhotray G.P., Ranjit M.R., Bautista J.M., Reddy P.H., Stevens D., Naidu J.M., Britt R.P., Vulliamy T.J., Luzzatto L., Mason P.J.;
"A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India.";
Am. J. Hum. Genet. 57:1335-1341(1995).
[35]
VARIANTS SWANSEA PRO-74; PLYMOUTH ASP-162; CORUM LYS-273 AND WEXHAM PHE-277.
PubMed=7858267 [NCBI, ExPASy, EBI, Israel, Japan]
Mason P.J., Sonati M.F., Macdonald D., Lanza C., Busutil D., Town M., Corcoran C.M., Kaeda J.S., Stevens D.J., Al-Ismail S., Altay C., Hatton C., Lewis D.S., McMullin M.F., Meloni T., Paul B., Pippard M., Prentice A.G., Vulliamy T.J., Luzzatto L.;
"New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia.";
Blood 85:1377-1380(1995).
[36]
VARIANTS MOUNT SINAI ASP-125 AND CYS-386.
PubMed=9452072 [NCBI, ExPASy, EBI, Israel, Japan]
Vlachos A., Westwood B., Lipton J.M., Beutler E.;
"G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D).";
Hum. Mutat. Suppl. 1:S154-S155(1998).
[37]
VARIANT SINNAI LEU-11.
DOI=10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU19>3.3.CO;2-K; PubMed=10627140 [NCBI, ExPASy, EBI, Israel, Japan]
Galanello R., Loi D., Sollaino C., Dessi S., Cao A., Melis M.A.;
"A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G->T).";
Hum. Mutat. 12:72-73(1998).
[38]
VARIANT REHOVOT HIS-321.
DOI=10.1006/bcmd.2000.0334; PubMed=11112389 [NCBI, ExPASy, EBI, Israel, Japan]
Iancovici-Kidon M., Sthoeger D., Abrahamov A., Volach B., Beutler E., Gelbart T., Barak Y.;
"A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD 'Rehovot') in a Jewish Ethiopian family with variable phenotypes.";
Blood Cells Mol. Dis. 26:567-571(2000).
Comments
  • FUNCTION: Produces pentose sugars for nucleic acid synthesis and main producer of NADPH reducing power.
  • CATALYTIC ACTIVITY: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH.
  • PATHWAY: Carbohydrate degradation; pentose phosphate pathway.
  • SUBUNIT: Homodimer or homotetramer.
  • ALTERNATIVE PRODUCTS:
  • TISSUE SPECIFICITY: The long isoform is found in lymphoblasts, granulocytes and sperm.
  • POLYMORPHISM: The sequence shown is that of variant B, the most common variant.
  • DISEASE: Defects in G6PD are the cause of chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]. Deficiency of G6PD is associated with hemolytic anemia in two different situations. First, in areas in which malaria has been endemic, G6PD-deficiency alleles have reached high frequencies (1% to 50%) and deficient individuals, though essentially asymptomatic in the steady state, have a high risk of acute hemolytic attacks. Secondly, sporadic cases of G6PD deficiency occur at a very low frequencies, and they usually present a more severe phenotype. Several types of CNSHA are recognized. Class-I variants are associated with severe NSHA; class-II have an activity <10% of normal; class-III have an activity of 10% to 60% of normal; class-IV have near normal activity.
  • MISCELLANEOUS: Has NADP both as cofactor (bound to the N-teminal domain) and as structural element bound to the C-terminal domain.
  • SIMILARITY: Belongs to the glucose-6-phosphate dehydrogenase family.
  • DATABASE: NAME=G6PD; NOTE=G6PD deficiency resource; WWW="http://rialto.com/g6pd/".
  • DATABASE: NAME=G6PDdb; NOTE=G6PD mutation database; WWW="http://www.rubic.rdg.ac.uk/g6pd/".
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
X03674; CAA27309.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M65234; AAA63175.1; ALT_INIT; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M26749; AAA63175.1; JOINED; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M26750; AAA63175.1; JOINED; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M65225; AAA63175.1; JOINED; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M65226; AAA63175.1; JOINED; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M65227; AAA63175.1; JOINED; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M65228; AAA63175.1; JOINED; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M65229; AAA63175.1; JOINED; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M65230; AAA63175.1; JOINED; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M65231; AAA63175.1; JOINED; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M65233; AAA63175.1; JOINED; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M65232; AAA63175.1; JOINED; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
L44140; AAA92653.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
X55448; CAA39089.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AF277315; AAL27011.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
BC000337; AAH00337.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M27940; AAA52504.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
S58359; AAB26169.1; ALT_INIT; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
X53815; CAA37811.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158096; AAN76367.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158097; AAN76368.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158098; AAN76369.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158099; AAN76370.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158100; AAN76371.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158101; AAN76372.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158102; AAN76373.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158103; AAN76374.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158104; AAN76375.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158105; AAN76376.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158106; AAN76377.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158107; AAN76378.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158108; AAN76379.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158109; AAN76380.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158110; AAN76381.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158111; AAN76382.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158112; AAN76383.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158113; AAN76384.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158114; AAN76385.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158115; AAN76386.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158116; AAN76387.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158117; AAN76388.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158118; AAN76389.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158119; AAN76390.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158120; AAN76391.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158121; AAN76392.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158122; AAN76393.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158123; AAN76394.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158124; AAN76395.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158125; AAN76396.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158126; AAN76397.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158127; AAN76398.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158128; AAN76399.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158129; AAN76400.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158130; AAN76401.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158131; AAN76402.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158132; AAN76403.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158133; AAN76404.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158134; AAN76405.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158135; AAN76406.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158136; AAN76407.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158137; AAN76408.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158138; AAN76409.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158139; AAN76410.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158140; AAN76411.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158141; AAN76412.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
AY158142; AAN76413.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M12996; AAA52499.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M23423; AAB59390.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M19866; AAA52501.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
M21248; AAA52500.1; -; mRNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
S64462; AAB20299.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
PIR A40309; DEHUG6.
UniGene Hs.461047
3D structure databases
PDB
1QKI; X-ray; A/B/C/D/E/F/G/H=1-514. [ExPASy / RCSB / EBI]
ModBase P11413.
Protein-protein interaction databases
DIP P11413.
Enzyme and pathway databases
Reactome P11413; -.
2D gel databases
SWISS-2DPAGE P11413; HUMAN.
Organism-specific gene databases
H-InvDB HIX0017161; -.
HGNC HGNC:4057; G6PD.
GeneCards G6PD.
GeneLynx G6PD; Homo sapiens.
GenAtlas G6PD.
MIM 305900; gene+phenotype. [NCBI / EBI]
HOVERGEN [Family / Alignment / Tree]
Gene expression databases
CleanEx HGNC:4057; G6PD.
Ontologies
GO
GO:0004345; Molecular function: glucose-6-phosphate 1-dehydrogenase activity (non-traceable author statement).
GO:0006010; Biological process: glucose 6-phosphate utilization (traceable author statement).
GO:0006098; Biological process: pentose-phosphate shunt (non-traceable author statement).
QuickGo view.
Family and domain databases
InterPro IPR001282; G6PDH.
Graphical view of domain structure.
PANTHER PTHR10097; G6PD; 1.
PTHR10097:SF2; G6PD; 1.
Pfam PF02781; G6PD_C; 1.
PF00479; G6PD_N; 1.
Pfam graphical view of domain structure.
PIRSF PIRSF000110; G6PD; 1.
PRINTS PR00079; G6PDHDRGNASE.
ProDom PD001129; G6PD; 1.
[Domain structure / List of seq. sharing at least 1 domain]
TIGRFAMs TIGR00871; zwf; 1.
PROSITE PS00069; G6P_DEHYDROGENASE; 1.
BLOCKS P11413.
Genome annotation databases
Ensembl ENSG00000160211; Homo sapiens. [Contig view]
Other
SOURCE G6PD; Homo sapiens.
ProtoNet P11413.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Acetylation; Alternative splicing; Carbohydrate metabolism; Direct protein sequencing; Disease mutation; Glucose metabolism; Hereditary hemolytic anemia; NADP; Oxidoreductase; Phosphorylation; Polymorphism.
Features
SEVIEWER logo Feature table viewer
Key From   To  Length   Description  FTId
INIT_MET    0     0            
CHAIN    1   514   514       Glucose-6-phosphate 1-dehydrogenase.  PRO_0000068083
NP_BIND    38    44   7       NADP (By similarity).  
ACT_SITE    262   262           Proton acceptor (By similarity).  
BINDING    39    39           NADP (By similarity).  
BINDING    71    71           NADP (By similarity).  
BINDING    200   200           Substrate (By similarity).  
BINDING    204   204           Substrate (By similarity).  
BINDING    237   237           NADP.  
BINDING    356   356           NADP.  
BINDING    486   486           NADP.  
MOD_RES    1     1           N-acetylalanine.  
MOD_RES    400   400           Phosphotyrosine.  
VARSPLIC    256   256           R -> RGPGRQGGSGSESCSLSLGSLVWGPHALEPGEQGGELRRA LASSVPR (in isoform Long).  VSP_001592
VARIANT    11    11   1       V -> L (in Sinnai).  VAR_002450 
VARIANT    31    31   1       H -> R (in CSNA; Gahoe; class III; frequent in Chinese).  VAR_002451 [3D]
VARIANT    34    34   1       Missing (in CNSHA; Sunderland; class I).  VAR_002452
VARIANT    43    43   1       A -> G (in Orissa; class III; frequent in Indian tribal populations).  VAR_002453 [3D]
VARIANT    47    47   1       I -> T (in Aures; class II).  VAR_002454 [3D]
VARIANT    57    57   1       D -> N (in Metaponto; class III).  VAR_002455 [3D]
VARIANT    67    67   1       V -> M (in A(-) type I; class III; frequent in African population; dbSNP:1050828) [NCBI/Ensembl].  VAR_002456 [3D]
VARIANT    69    69   1       Y -> H (in Namoru; 4% activity).  VAR_002457 [3D]
VARIANT    74    74   1       L -> P (in Swansea; class I).  VAR_002458 [3D]
VARIANT    80    80   1       R -> C (in Konan/Ube; class III).  VAR_002460 [3D]
VARIANT    80    80   1       R -> H (in Lagosanto; class III).  VAR_002459 [3D]
VARIANT    105   105   1       S -> C (in Vancouver; class I).  VAR_002461 [3D]
VARIANT    125   125   1       N -> D (in A(+), A(-), Santa Maria; class IV and in Mount Sinai; class I; dbSNP:1050829) [NCBI/Ensembl].  VAR_002462 [3D]
VARIANT    127   127   1       L -> P (in Vanua Lava; 4% activity).  VAR_002463 [3D]
VARIANT    130   130   1       G -> V (in Chinese-4).  VAR_002464 [3D]
VARIANT    155   155   1       E -> K (in Ilesha; class III).  VAR_002465 [3D]
VARIANT    162   162   1       G -> D (in Plymouth; class I).  VAR_002467 [3D]
VARIANT    162   162   1       G -> S (in Mahidol; class III).  VAR_002466 [3D]
VARIANT    164   164   1       N -> D (in Chinese-3; class II).  VAR_002468 [3D]
VARIANT    165   165   1       R -> H (in Naone; 1% activity).  VAR_002469 [3D]
VARIANT    175   175   1       D -> G (in Shinshu; class I).  VAR_002470 [3D]
VARIANT    180   180   1       D -> V (in Santa Maria; class I).  VAR_002471 [3D]
VARIANT    181   181   1       R -> W (in Vancouver; class I).  VAR_002472 [3D]
VARIANT    187   187   1       S -> F (in Sassari/Cagliari; class II; frequent in the Mediterranean).  VAR_002473 [3D]
VARIANT    197   197   1       R -> C (in Coimbra; class II).  VAR_002474 [3D]
VARIANT    197   197   1       R -> P (in CNSHA; Santiago; class I).  VAR_002475 [3D]
VARIANT    211   211   1       M -> V (in Sibari; class III).  VAR_002476 [3D]
VARIANT    212   212   1       V -> L (in Minnesota; class I).  VAR_002477 [3D]
VARIANT    215   215   1       F -> L (in Harilaou; class I).  VAR_002478 [3D]
VARIANT    226   226   1       R -> L (in A- type 2; class III).  VAR_002480 [3D]
VARIANT    226   226   1       R -> Q (in Mexico City; class III).  VAR_002479 [3D]
VARIANT    241   242   2       Missing (in Stonybrook; class I).  VAR_002481
VARIANT    256   256   1       R -> G (in Wayne; class I).  VAR_002482 [3D]
VARIANT    273   273   1       E -> K (in Corum; class I).  VAR_002483 [3D]
VARIANT    277   277   1       S -> F (in Wexham; class I).  VAR_002484 [3D]
VARIANT    278   278   1       T -> S (in Chinese-1; class II).  VAR_002485 [3D]
VARIANT    281   281   1       D -> H (in Seattle; class III).  VAR_002486 [3D]
VARIANT    284   284   1       R -> H (in Montalbano; class III).  VAR_002487 [3D]
VARIANT    290   290   1       V -> M (in Viangchan/Jammu; class II).  VAR_002488 [3D]
VARIANT    316   316   1       E -> K (in Kalyan/Kerala; class III).  VAR_002489 [3D]
VARIANT    321   321   1       Y -> H (in Rehovot).  VAR_020535 [3D]
VARIANT    322   322   1       L -> P (in A- type 3; class III).  VAR_002490 [3D]
VARIANT    334   334   1       A -> T (in Chatham; class III).  VAR_002491 [3D]
VARIANT    341   341   1       L -> F (in Chinese-5).  VAR_002492 [3D]
VARIANT    352   352   1       P -> S (in Ierapetra; class II).  VAR_002493 [3D]
VARIANT    362   362   1       N -> K (in Loma Linda; class I).  VAR_002494 [3D]
VARIANT    384   384   1       C -> R (in Tomah; class I).  VAR_002495 [3D]
VARIANT    385   385   1       K -> E (in Iowa; class I).  VAR_002496 [3D]
VARIANT    386   386   1       R -> C (in CNSHA; Guadajalara and Mount Sinai; class I).  VAR_002498 [3D]
VARIANT    386   386   1       R -> H (in Beverly Hills; class I).  VAR_002497 [3D]
VARIANT    392   392   1       R -> H (in Nashville/Anaheim; class I).  VAR_002499 [3D]
VARIANT    393   393   1       V -> L (in CNSHA; Alhambra; class I).  VAR_002500 [3D]
VARIANT    395   395   1       P -> L (in Bari; class I).  VAR_002501 [3D]
VARIANT    397   397   1       E -> K (in Puerto Limon; class I).  VAR_002502 [3D]
VARIANT    409   409   1       G -> C (in Riverside; class I).  VAR_002503 [3D]
VARIANT    409   409   1       G -> D (in CNSHA; Japan; class I).  VAR_002504 [3D]
VARIANT    415   415   1       E -> K (in Tokyo; class I).  VAR_002505 [3D]
VARIANT    438   438   1       R -> P (in CNSHA; Pawnee; class I).  VAR_002506 [3D]
VARIANT    439   439   1       L -> F (in Telti/Kobe; class I).  VAR_002507 [3D]
VARIANT    446   446   1       G -> R (in Santiago de Cuba; class I).  VAR_002508 [3D]
VARIANT    448   448   1       Q -> H (in Cassano; class II).  VAR_002509 [3D]
VARIANT    453   453   1       R -> C (in Chinese-II/Maewo/Union; class II, <1% activity).  VAR_002510 [3D]
VARIANT    453   453   1       R -> H (in Andalus; class I).  VAR_002511 [3D]
VARIANT    458   458   1       R -> L (in Canton; class II; frequent in China).  VAR_002512 [3D]
VARIANT    458   458   1       R -> P (in Cosenza; class II).  VAR_002513 [3D]
VARIANT    462   462   1       R -> H (in Kaiping; class II).  VAR_002514 [3D]
VARIANT    487   487   1       G -> V (in Campinas; class I).  VAR_002515 [3D]
CONFLICT    10    10           H -> Q (in Ref. 5, 7 and 8).  
CONFLICT    434   435           DA -> EP (in Ref. 12).  
STRAND    28    28   1        
STRAND    31    36   6        
TURN    37    39   3        
STRAND    40    40   1        
HELIX    41    45   5        
TURN    46    46   1        
HELIX    47    56   10        
TURN    57    58   2        
STRAND    60    60   1        
STRAND    62    72   11        
STRAND    75    75   1        
TURN    77    79   3        
HELIX    80    83   4        
STRAND    84    84   1        
TURN    87    88   2        
HELIX    91   101   11        
TURN    102   103   2        
STRAND    104   105   2        
STRAND    108   108   1        
TURN    111   112   2        
HELIX    114   126   13        
TURN    127   132   6        
STRAND    133   139   7        
STRAND    141   141   1        
HELIX    143   156   14        
STRAND    157   157   1        
STRAND    160   162   3        
STRAND    164   169   6        
STRAND    174   174   1        
HELIX    176   189   14        
STRAND    190   190   1        
HELIX    192   194   3        
STRAND    195   197   3        
HELIX    200   203   4        
STRAND    204   204   1        
HELIX    205   215   11        
STRAND    216   216   1        
STRAND    218   218   1        
TURN    219   223   5        
STRAND    224   225   2        
TURN    226   228   3        
STRAND    229   237   9        
STRAND    239   240   2        
STRAND    244   244   1        
HELIX    246   249   4        
TURN    250   252   3        
HELIX    253   257   5        
TURN    258   261   4        
HELIX    262   271   10        
STRAND    276   278   3        
HELIX    280   291   12        
TURN    292   293   2        
STRAND    294   294   1        
HELIX    299   301   3        
STRAND    302   308   7        
TURN    311   312   2        
STRAND    313   313   1        
HELIX    315   318   4        
STRAND    321   321   1        
TURN    322   323   2        
TURN    325   326   2        
STRAND    327   327   1        
TURN    329   330   2        
STRAND    335   343   9        
STRAND    345   345   1        
TURN    346   350   5        
STRAND    352   360   9        
STRAND    362   362   1        
STRAND    365   372   8        
STRAND    376   377   2        
STRAND    379   380   2        
TURN    381   382   2        
STRAND    388   396   9        
STRAND    398   406   9        
STRAND    408   410   3        
STRAND    413   422   10        
HELIX    423   426   4        
TURN    427   427   1        
STRAND    429   429   1        
HELIX    435   445   11        
TURN    446   446   1        
HELIX    448   450   3        
STRAND    451   452   2        
HELIX    454   474   21        
STRAND    479   482   4        
TURN    483   484   2        
STRAND    485   485   1        
HELIX    489   497   9        
TURN    498   499   2        
STRAND    504   504   1        
Sequence information
Length: 514 AA [This is the length of the unprocessed precursor] Molecular weight: 59135 Da [This is the MW of the unprocessed precursor] CRC64: F6A11CB092B0A96F [This is a checksum on the sequence]
        10         20         30         40         50         60 
AEQVALSRTH VCGILREELF QGDAFHQSDT HIFIIMGASG DLAKKKIYPT IWWLFRDGLL 

        70         80         90        100        110        120 
PENTFIVGYA RSRLTVADIR KQSEPFFKAT PEEKLKLEDF FARNSYVAGQ YDDAASYQRL 

       130        140        150        160        170        180 
NSHMNALHLG SQANRLFYLA LPPTVYEAVT KNIHESCMSQ IGWNRIIVEK PFGRDLQSSD 

       190        200        210        220        230        240 
RLSNHISSLF REDQIYRIDH YLGKEMVQNL MVLRFANRIF GPIWNRDNIA CVILTFKEPF 

       250        260        270        280        290        300 
GTEGRGGYFD EFGIIRDVMQ NHLLQMLCLV AMEKPASTNS DDVRDEKVKV LKCISEVQAN 

       310        320        330        340        350        360 
NVVLGQYVGN PDGEGEATKG YLDDPTVPRG STTATFAAVV LYVENERWDG VPFILRCGKA 

       370        380        390        400        410        420 
LNERKAEVRL QFHDVAGDIF HQQCKRNELV IRVQPNEAVY TKMMTKKPGM FFNPEESELD 

       430        440        450        460        470        480 
LTYGNRYKNV KLPDAYERLI LDVFCGSQMH FVRSDELREA WRIFTPLLHQ IELEKPKPIP 

       490        500        510 
YIYGSRGPTE ADELMKRVGF QYEGTYKWVN PHKL 

P11413 in FASTA format

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View entry in raw text format (no links)
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Tools Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
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