G6PD
entrez
2539
canonical
uniprot
P11413
canonical
ensembl
ENSG00000160211
resolver
ensp
ENSP00000377192
resolver
ensp
ENSP00000377194
resolver
genesymbol
G6PD
resolver
hgnc
HGNC:4057
resolver
uniprot
A0A384NL00
resolver
uniprot
D3DWX9
resolver
uniprot
Q16000
resolver
uniprot
Q16765
resolver
uniprot
Q8IU70
resolver
uniprot
Q8IU88
resolver
uniprot
Q8IUA6
resolver
uniprot
Q96PQ2
resolver
uniprot_entry
A0A384NL00_HUMAN
resolver
uniprot_entry
G6PD_HUMAN
resolver
uniprot_sec
D3DWX9
resolver
uniprot_sec
Q16000
resolver
uniprot_sec
Q16765
resolver
uniprot_sec
Q8IU70
resolver
uniprot_sec
Q8IU88
resolver
uniprot_sec
Q8IUA6
resolver
uniprot_sec
Q96PQ2
resolver
amino_acid_sequence
MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL
uniprot
proteins
disease_involvement
DISEASE: Anemia, congenital, non-spherocytic hemolytic, 1 (CNSHA1) [MIM:300908]: An X-linked disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life. {ECO:0000269|PubMed:10772881, ECO:0000269|PubMed:12524354, ECO:0000269|PubMed:1303180, ECO:0000269|PubMed:1303182, ECO:0000269|PubMed:1353664, ECO:0000269|PubMed:1459579, ECO:0000269|PubMed:1536798, ECO:0000269|PubMed:1562739, ECO:0000269|PubMed:1611091, ECO:0000269|PubMed:1733837, ECO:0000269|PubMed:1805484, ECO:0000269|PubMed:1879833, ECO:0000269|PubMed:1889820, ECO:0000269|PubMed:1945893, ECO:0000269|PubMed:20007901, ECO:0000269|PubMed:2222408, ECO:0000269|PubMed:2263506, ECO:0000269|PubMed:2321910, ECO:0000269|PubMed:2393028, ECO:0000269|PubMed:2503817, ECO:0000269|PubMed:2572288, ECO:0000269|PubMed:2602358, ECO:0000269|PubMed:26479991, ECO:0000269|PubMed:2836867, ECO:0000269|PubMed:2912069, ECO:0000269|PubMed:30988594, ECO:0000269|PubMed:3393536, ECO:0000269|PubMed:38066190, ECO:0000269|PubMed:7825590, ECO:0000269|PubMed:7858267, ECO:0000269|PubMed:7959695, ECO:0000269|PubMed:8193373, ECO:0000269|PubMed:8364584, ECO:0000269|PubMed:8447319, ECO:0000269|PubMed:8477268, ECO:0000269|PubMed:8490627, ECO:0000269|PubMed:8533762, ECO:0000269|PubMed:8733135, ECO:0000269|PubMed:9452072}. Note=The disease is caused by variants affecting the gene represented in this entry. 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 CNSHA1 are recognized. Class-I variants are associated with severe CNSHA1; 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.
uniprot
proteins
ec_number
1.-.-.-
uniprot
proteins
ec_number
1.1.1.49
uniprot
proteins
function
FUNCTION: Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis. Also catalyzes the conversion of NAADPH, which is produced by enzymes such as DUOX1, DUOX2 and NOX5 from NAADP and promotes Ca(2+) signaling during T cell activation, back to NAADP (PubMed:34784249). {ECO:0000269|PubMed:15858258, ECO:0000269|PubMed:24769394, ECO:0000269|PubMed:26479991, ECO:0000269|PubMed:34784249, ECO:0000269|PubMed:35122041, ECO:0000269|PubMed:38066190, ECO:0000269|PubMed:743300}.
uniprot
proteins
mass_dalton
59257
uniprot
proteins
mutagenesis
MUTAGEN 171; /note="K->Q: Inhibits catalytic activity. Does not impair dimerization."; /evidence="ECO:0000269|PubMed:24769394"; MUTAGEN 171; /note="K->R: Inhibits catalytic activity. Does not impair dimerization."; /evidence="ECO:0000269|PubMed:24769394"; MUTAGEN 386; /note="K->Q: Impairs dimerization and reduces catalytic activity."; /evidence="ECO:0000269|PubMed:24769394"; MUTAGEN 386; /note="K->R: Does not impair dimerization and catalytic activity."; /evidence="ECO:0000269|PubMed:24769394"; MUTAGEN 403; /note="K->Q: Impairs dimerization and reduces catalytic activity in cells under oxidative stress."; /evidence="ECO:0000269|PubMed:24769394"; MUTAGEN 403; /note="K->R: Does not impair dimerization and catalytic activity."; /evidence="ECO:0000269|PubMed:24769394
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate degradation; pentose phosphate pathway; D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 1/3. {ECO:0000269|PubMed:15858258, ECO:0000269|PubMed:24769394, ECO:0000269|PubMed:26479991, ECO:0000269|PubMed:743300}.
uniprot
proteins
post_translational_modification
PTM: Acetylated by ELP3 at Lys-403; acetylation inhibits its homodimerization and enzyme activity. Deacetylated by SIRT2 at Lys-403; deacetylation stimulates its enzyme activity. {ECO:0000269|PubMed:24769394, ECO:0000269|PubMed:7857286}.
uniprot
proteins
protein_family
Glucose-6-phosphate dehydrogenase family
uniprot
proteins
pubmed
10627140
uniprot
proteins
pubmed
10745013
uniprot
proteins
pubmed
10772881
uniprot
proteins
pubmed
11112389
uniprot
proteins
pubmed
11857737
uniprot
proteins
pubmed
12524354
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
1303180
uniprot
proteins
pubmed
1303182
uniprot
proteins
pubmed
1353664
uniprot
proteins
pubmed
1459579
uniprot
proteins
pubmed
1536798
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1562739
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15858258
uniprot
proteins
pubmed
1611091
uniprot
proteins
pubmed
1733837
uniprot
proteins
pubmed
18043863
uniprot
proteins
pubmed
1805484
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
1874446
uniprot
proteins
pubmed
1879833
uniprot
proteins
pubmed
1889820
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
1945893
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20007901
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
2222408
uniprot
proteins
pubmed
22431005
uniprot
proteins
pubmed
2263506
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
2321910
uniprot
proteins
pubmed
2393028
uniprot
proteins
pubmed
2428611
uniprot
proteins
pubmed
24769394
uniprot
proteins
pubmed
2503817
uniprot
proteins
pubmed
2572288
uniprot
proteins
pubmed
2602358
uniprot
proteins
pubmed
26479991
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
2758468
uniprot
proteins
pubmed
2836867
uniprot
proteins
pubmed
2910917
uniprot
proteins
pubmed
2912069
uniprot
proteins
pubmed
29192674
uniprot
proteins
pubmed
29333274
uniprot
proteins
pubmed
3012556
uniprot
proteins
pubmed
30988594
uniprot
proteins
pubmed
3126064
uniprot
proteins
pubmed
3393536
uniprot
proteins
pubmed
3446582
uniprot
proteins
pubmed
34784249
uniprot
proteins
pubmed
35122041
uniprot
proteins
pubmed
3515319
uniprot
proteins
pubmed
38066190
uniprot
proteins
pubmed
6696761
uniprot
proteins
pubmed
743300
uniprot
proteins
pubmed
7825590
uniprot
proteins
pubmed
7857286
uniprot
proteins
pubmed
7858267
uniprot
proteins
pubmed
7959695
uniprot
proteins
pubmed
8193373
uniprot
proteins
pubmed
8364584
uniprot
proteins
pubmed
8447319
uniprot
proteins
pubmed
8466644
uniprot
proteins
pubmed
8477268
uniprot
proteins
pubmed
8490627
uniprot
proteins
pubmed
8533762
uniprot
proteins
pubmed
8733135
uniprot
proteins
pubmed
9452072
uniprot
proteins
sequence_length
515
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:35122041, ECO:0000269|PubMed:743300}. Membrane; Peripheral membrane protein {ECO:0000269|PubMed:743300}.
uniprot
proteins