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Reviewed, UniProtKB/Swiss-Prot P11413 (G6PD_HUMAN)

Last modified November 25, 2008. Version 132. Feed History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Glucose-6-phosphate 1-dehydrogenase
      Short name=G6PD
    EC=1.1.1.49
Gene names
Name: G6PD
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length515 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (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; D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 1/3.

Subunit structure

Homodimer or homotetramer.

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.

Involvement in 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-terminal domain) and as structural element bound to the C-terminal domain.

Sequence similarities

Belongs to the glucose-6-phosphate dehydrogenase family.

Ontologies

Keywords

   Biological processCarbohydrate metabolism
Glucose metabolism
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Hereditary hemolytic anemia
   LigandNADP
   Molecular functionOxidoreductase
   PTMAcetylation
Phosphoprotein
   Technical term3D-structure
Direct protein sequencing

Gene Ontology (GO)

   Biological processcellular response to oxidative stress

Inferred from mutant phenotype. Source: UniProtKB

cholesterol biosynthetic process

Inferred from mutant phenotype. Source: UniProtKB

erythrocyte maturation

Inferred from mutant phenotype. Source: UniProtKB

glucose 6-phosphate utilization

Inferred from mutant phenotype. Source: UniProtKB

glutathione metabolic process

Inferred from mutant phenotype. Source: UniProtKB

oxidation reduction

Inferred from electronic annotation. Source: UniProtKB-KW

pentose-phosphate shunt, oxidative branch

Inferred from mutant phenotype. Source: UniProtKB

regulation of protein modification process

Inferred from mutant phenotype. Source: UniProtKB

ribose phosphate biosynthetic process

Inferred from mutant phenotype. Source: UniProtKB

   Cellular componentcentrosome

Inferred from direct assay. Source: HPA

cytosol

Inferred from direct assay. Source: UniProtKB

internal side of plasma membrane

Inferred from direct assay. Source: UniProtKB

intracellular membrane-bounded organelle

Inferred from direct assay. Source: HPA

   Molecular functionNADP binding

Inferred from direct assay. Source: UniProtKB

glucose binding

Inferred from direct assay. Source: UniProtKB

glucose-6-phosphate dehydrogenase activity

Inferred from electronic annotation. Source: InterPro

protein homodimerization activity

Inferred from physical interaction. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform Short (identifier: P11413-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform Long (identifier: P11413-2)

The sequence of this isoform differs from the canonical sequence as follows:
     257-257: R → RGPGRQGGSGSESCSLSLGSLVWGPHALEPGEQGGELRRALASSVPR

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed
Chain2 – 515514Glucose-6-phosphate 1-dehydrogenase
PRO_0000068083

Regions

Nucleotide binding39 – 457NADP By similarity

Sites

Active site2631Proton acceptor By similarity
Binding site401NADP By similarity
Binding site721NADP By similarity
Binding site2011Substrate By similarity
Binding site2051Substrate By similarity
Binding site2381NADP
Binding site3571NADP
Binding site4871NADP

Amino acid modifications

Modified residue21N-acetylalanine
Modified residue4011Phosphotyrosine
Modified residue5031Phosphotyrosine
Modified residue5071Phosphotyrosine

Natural variations

Alternative sequence2571R → RGPGRQGGSGSESCSLSLGS LVWGPHALEPGEQGGELRRA LASSVPR in isoform Long.
VSP_001592
Natural variant121V → L in Sinnai.
VAR_002450
Natural variant321H → R in CSNA; Gahoe; class III; frequent in Chinese.
VAR_002451
Natural variant351Missing in CNSHA; Sunderland; class I.
VAR_002452
Natural variant441A → G in Orissa; class III; frequent in Indian tribal populations.
VAR_002453
Natural variant481I → T in Aures; class II.
VAR_002454
Natural variant581D → N in Metaponto; class III.
VAR_002455
Natural variant681V → M in A(-) type I; class III; frequent in African population. dbSNP rs1050828.
VAR_002456
Natural variant701Y → H in Namoru; 4% activity.
VAR_002457
Natural variant751L → P in Swansea; class I.
VAR_002458
Natural variant811R → C in Konan/Ube; class III.
VAR_002460
Natural variant811R → H in Lagosanto; class III.
VAR_002459
Natural variant1061S → C in Vancouver; class I.
VAR_002461
Natural variant1261N → D in A(+), A(-), Santa Maria; class IV and in Mount Sinai; class I. dbSNP rs1050829.
VAR_002462
Natural variant1281L → P in Vanua Lava; 4% activity.
VAR_002463
Natural variant1311G → V in Chinese-4.
VAR_002464
Natural variant1561E → K in Ilesha; class III.
VAR_002465
Natural variant1631G → D in Plymouth; class I.
VAR_002467
Natural variant1631G → S in Mahidol; class III.
VAR_002466
Natural variant1651N → D in Chinese-3; class II.
VAR_002468
Natural variant1661R → H in Naone; 1% activity.
VAR_002469
Natural variant1761D → G in Shinshu; class I.
VAR_002470
Natural variant1811D → V in Santa Maria; class I.
VAR_002471
Natural variant1821R → W in Vancouver; class I.
VAR_002472
Natural variant1881S → F in Sassari/Cagliari; class II; frequent in the Mediterranean.
VAR_002473
Natural variant1981R → C in Coimbra; class II.
VAR_002474
Natural variant1981R → P in CNSHA; Santiago; class I.
VAR_002475
Natural variant2121M → V in Sibari; class III.
VAR_002476
Natural variant2131V → L in Minnesota; class I.
VAR_002477
Natural variant2161F → L in Harilaou; class I.
VAR_002478
Natural variant2271R → L in A- type 2; class III.
VAR_002480
Natural variant2271R → Q in Mexico City; class III.
VAR_002479
Natural variant242 – 2432Missing in Stonybrook; class I.
VAR_002481
Natural variant2571R → G in Wayne; class I.
VAR_002482
Natural variant2741E → K in Corum; class I.
VAR_002483
Natural variant2781S → F in Wexham; class I.
VAR_002484
Natural variant2791T → S in Chinese-1; class II.
VAR_002485
Natural variant2821D → H in Seattle; class III.
VAR_002486
Natural variant2851R → H in Montalbano; class III.
VAR_002487
Natural variant2911V → M in Viangchan/Jammu; class II.
VAR_002488
Natural variant3171E → K in Kalyan/Kerala; class III.
VAR_002489
Natural variant3221Y → H in Rehovot.
VAR_020535
Natural variant3231L → P in A- type 3; class III.
VAR_002490
Natural variant3351A → T in Chatham; class III.
VAR_002491
Natural variant3421L → F in Chinese-5.
VAR_002492
Natural variant3531P → S in Ierapetra; class II.
VAR_002493
Natural variant3631N → K in Loma Linda; class I.
VAR_002494
Natural variant3851C → R in Tomah; class I.
VAR_002495
Natural variant3861K → E in Iowa; class I.
VAR_002496
Natural variant3871R → C in CNSHA; Guadajalara and Mount Sinai; class I.
VAR_002498
Natural variant3871R → H in Beverly Hills; class I.
VAR_002497
Natural variant3931R → H in Nashville/Anaheim; class I.
VAR_002499
Natural variant3941V → L in CNSHA; Alhambra; class I.
VAR_002500
Natural variant3961P → L in Bari; class I.
VAR_002501
Natural variant3981E → K in Puerto Limon; class I.
VAR_002502
Natural variant4101G → C in Riverside; class I.
VAR_002503
Natural variant4101G → D in CNSHA; Japan; class I.
VAR_002504
Natural variant4161E → K in Tokyo; class I.
VAR_002505
Natural variant4391R → P in CNSHA; Pawnee; class I.
VAR_002506
Natural variant4401L → F in Telti/Kobe; class I.
VAR_002507
Natural variant4471G → R in Santiago de Cuba; class I.
VAR_002508
Natural variant4491Q → H in Cassano; class II.
VAR_002509
Natural variant4541R → C in Chinese-II/Maewo/Union; class II, <1% activity.
VAR_002510
Natural variant4541R → H in Andalus; class I.
VAR_002511
Natural variant4591R → L in Canton; class II; frequent in China.
VAR_002512
Natural variant4591R → P in Cosenza; class II.
VAR_002513
Natural variant4631R → H in Kaiping; class II.
VAR_002514
Natural variant4881G → V in Campinas; class I.
VAR_002515

Experimental info

Sequence conflict111Q → H Ref.1 Ref.2 Ref.3 Ref.4 Ref.6 Ref.9
Sequence conflict435 – 4362DA → EP Ref.12

Secondary structure

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