G6PD_HUMAN
Source:
hRBCD
; ID:
IPI00216008
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
G6PD
Protein names and data:
G6PD_HUMAN
, Glucose-6-phosphate 1-dehydrogenase; G6PD; 1.1.1.49
Lenght: 515 a.a.
Mass: 59257 Da
fasta formatted sequence
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.
Catalytic activity:
D-glucose 6-phosphate + NADP(+) = 6-phospho-D- glucono-1,5-lactone + NADPH.
Pathway:
Carbohydrate degradation; pentose phosphate pathway; D- ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 1/3.
Disease:
( OMIM:
300908
305900
)
Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]: A 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. Note=The disease is caused by mutations 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 NSHA 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.
Tissue specificity:
Isoform Long is found in lymphoblasts, granulocytes and sperm.
Genetic variants
The sequence shown is that of variant B, the most common variant.
12 - 12
V -> L (in Sinnai). VAR_002450
32 - 32
H -> R (in CSNA; Gahoe; class III; frequent in Chinese). VAR_002451
35 - 35
Missing (in NSHA; Sunderland; class I). VAR_002452
44 - 44
A -> G (in Orissa; class III; frequent in Indian tribal populations). VAR_002453
48 - 48
I -> T (in Aures; class II). VAR_002454
58 - 58
D -> N (in Metaponto; class III). VAR_002455
68 - 68
V -> M (in A(-) type I; class III; frequent in African population; dbSNP:rs1050828). VAR_002456
1050828
70 - 70
Y -> H (in Namoru; 4% activity). VAR_002457
75 - 75
L -> P (in Swansea; class I). VAR_002458
81 - 81
R -> C (in Konan/Ube; class III; dbSNP:rs138687036). VAR_002460
138687036
81 - 81
R -> H (in Lagosanto; class III). VAR_002459
106 - 106
S -> C (in Vancouver; class I). VAR_002461
126 - 126
N -> D (in A(+), A(-), Santa Maria; class IV and in Mount Sinai; class I; dbSNP:rs1050829). VAR_002462
1050829
128 - 128
L -> P (in Vanua Lava; 4% activity). VAR_002463
131 - 131
G -> V (in Chinese-4; dbSNP:rs137852341). VAR_002464
137852341
156 - 156
E -> K (in Ilesha; class III). VAR_002465
163 - 163
G -> D (in Plymouth; class I). VAR_002467
163 - 163
G -> S (in Mahidol; class III; reduced activity; associated with reduced density of Plasmodium vivax but not Plasmodium falciparum in Southeast Asians). VAR_002466
165 - 165
N -> D (in Chinese-3; class II). VAR_002468
166 - 166
R -> H (in Naone; 1% activity). VAR_002469
176 - 176
D -> G (in Shinshu; class I). VAR_002470
181 - 181
D -> V (in Santa Maria; class I; dbSNP:rs5030872). VAR_002471
5030872
182 - 182
R -> W (in Vancouver; class I). VAR_002472
188 - 188
S -> F (in Sassari/Cagliari; class II; frequent in the Mediterranean; dbSNP:rs5030868). VAR_002473
5030868
198 - 198
R -> C (in Coimbra; class II). VAR_002474
198 - 198
R -> P (in NSHA; Santiago; class I). VAR_002475
212 - 212
M -> V (in Sibari; class III). VAR_002476
213 - 213
V -> L (in Minnesota; class I). VAR_002477
216 - 216
F -> L (in Harilaou; class I). VAR_002478
227 - 227
R -> L (in A- type 2; class III). VAR_002480
227 - 227
R -> Q (in Mexico City; class III). VAR_002479
242 - 243
Missing (in Stonybrook; class I). VAR_002481
257 - 257
R -> G (in Wayne; class I). VAR_002482
274 - 274
E -> K (in Corum; class I). VAR_002483
278 - 278
S -> F (in Wexham; class I). VAR_002484
279 - 279
T -> S (in Chinese-1; class II). VAR_002485
282 - 282
D -> H (in Seattle; class III). VAR_002486
285 - 285
R -> H (in Montalbano; class III). VAR_002487
291 - 291
V -> M (in Viangchan/Jammu; class II). VAR_002488
317 - 317
E -> K (in Kalyan/Kerala; class III). VAR_002489
322 - 322
Y -> H (in Rehovot). VAR_020535
323 - 323
L -> P (in A- type 3; class III; dbSNP:rs76723693). VAR_002490
76723693
335 - 335
A -> T (in Chatham; class III; dbSNP:rs5030869). VAR_002491
5030869
342 - 342
L -> F (in Chinese-5). VAR_002492
353 - 353
P -> S (in Ierapetra; class II). VAR_002493
363 - 363
N -> K (in Loma Linda; class I). VAR_002494
385 - 385
C -> R (in Tomah; class I). VAR_002495
386 - 386
K -> E (in Iowa; class I). VAR_002496
387 - 387
R -> C (in NSHA; Guadajalara and Mount Sinai; class I). VAR_002498
387 - 387
R -> H (in Beverly Hills; class I). VAR_002497
393 - 393
R -> H (in Nashville/Anaheim; class I). VAR_002499
394 - 394
V -> L (in NSHA; Alhambra; class I). VAR_002500
396 - 396
P -> L (in Bari; class I). VAR_002501
398 - 398
E -> K (in Puerto Limon; class I). VAR_002502
410 - 410
G -> C (in Riverside; class I). VAR_002503
410 - 410
G -> D (in NSHA; Japan; class I). VAR_002504
416 - 416
E -> K (in Tokyo; class I). VAR_002505
439 - 439
R -> P (in NSHA; Pawnee; class I). VAR_002506
440 - 440
L -> F (in Telti/Kobe; class I). VAR_002507
447 - 447
G -> R (in Santiago de Cuba; class I). VAR_002508
449 - 449
Q -> H (in Cassano; class II). VAR_002509
454 - 454
R -> C (in Chinese-II/Maewo/Union; class II, <1% activity). VAR_002510
454 - 454
R -> H (in Andalus; class I). VAR_002511
459 - 459
R -> L (in Canton; class II; frequent in China; dbSNP:rs72554665). VAR_002512
72554665
459 - 459
R -> P (in Cosenza; class II; dbSNP:rs72554665). VAR_002513
72554665
463 - 463
R -> H (in Kaiping; class II). VAR_002514
488 - 488
G -> V (in Campinas; class I). VAR_002515
Database cross-references
UniProt:
P11413
Ensembl:
ENST00000369620
Ensembl:
ENST00000393562
Ensembl:
ENST00000393564
Ensembl:
ENST00000593787
Ensembl:
ENST00000594771
Ensembl:
ENST00000595441
MIM:
300908
MIM:
305900
neXtProt:
NX_P11413
Antibodypedia:
P11413
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.