Nomenclature | Genomic Location |
Symbol | G6pd | Chromosome | 2 |
Name | Glucose-6-phosphate dehydrogenase | Linkage map | unknown |
Species | Dracomimus familiaris | Genome Coordinates | Chr2: 57 Mbp |
Molecular Function |
Produces pentose sugars for nucleic acid synthesis and main producer of NADPH reducing power.
D-glucose 6-phosphate + NADP+ = 6-phospho-D-glucono-1,5-lactone + NADPH.
Molecular Function Terms:
binding
carbohydrate binding
sugar binding
monosaccharide binding
cofactor binding
coenzyme binding
NADP binding
nucleotide binding
NADP binding
catalytic activity
oxidoreductase activity
oxidoreductase activity, acting on CH-OH group of donors
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Human Disease Association |
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.
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1 TTTTTTGTCTTGTATTTGCAGGGTGATCTAGCCAAGAAGAAGATCTATCCCACCATCTGG
61 TGGCTATACCGTGATGGACTGCTCCCCGATGACACATACGTGGTAGGATATGCCCGATCC
121 CAACTGACAGTTGCCGACATCCGCAAGCAGAGTCAACCCTACCTCAAAGCCACCCCCGAA
181 GAAGAGCAGAAACTGAATGATTTTTTTGCCCGCAACTCATACATCTCGGGAAAGTATGAT
241 GACCAGGCCTCCTTTGAACGGCTCAATGCTCATCTGAATGCCCTTCATAACGGGGATAAG
301 GCAAATCGTCTCTTCTACTTGGCCCTGCCGCCCAGTGTCTATGAGCATGTCACTGCCAAC
361 ATCCGGCACACCTGCATGAGCACTGTCACCAGTGGCTGGAATCGTGTCATTGTGGAGAAA
421 CCTTTTGGCAAAGACTTGGAGAGCTCCAACAAGCTGTCAAATCACATCTCAGGACTTTTT
481 AGGGAAGATCAGATCTACCGTATTGACCACTACCTGGGCAAGGAGATGGTGCAGAACCTG
541 ATGGTGCTCAGGTTTGGGAACCGGATCTTTGGTCCTATCTGGAATCGTGACAACGTGGCC
601 TGTGTCATCCTGACTTTCAAAGAGCCATTTGGCACTGAGGGTCGGGGTGGCTATTTTGAT
661 GAGTTTGGCATAATCAGGGACGTAATGCAGAATCACCTACTTCAAATGCTGTGCTTGGTA
721 GCCATGGAGAAACCAGCTTCTACGAACTCCGATGATGTGCGTGATGAAAAGGTGAAGGTT
781 CTCAAGTGCATCTCAGAGGCAAAGCCTGAGAATGTGGTGCTTGGGCAGTATGTGGGTGAT
841 CCATCTGGCCAGGGAGAAGCTCAAAAGGGCTATCTAGATGATCCCACTGTCCCAGCTGGT
901 TCCACCACTCCTACTTTTGCTGCTGCAGTACTCTATGTAGACAACGAAAGGTGGGATGGA
961 GTGCCATTTGTCTTGCGCTGTGGCAAGGCATTAAATGAGCGCAAGGCAGAAGTGCGCCTT
1021 CAGTTTCGGGAGGTGCCGGGTGACATCTTCCAGCGCCAGTGTAAACGCAATGAACTGGTG
1081 ATTCGGGTTCAGCCCAATGAGGCTGTCTACACTAAGATGATGACCAAGAAGCCTGGGATG
1141 TTCTTCAACCCAGAAGAGTCTGAGCTGGACCTCACTTATGGCAATCGCTACAAGGGTGTA
1201 AAGCTTCCTGATGCTTATGAGCGCCTCATCTTGGATGTTTTCTGTGGAAGCCAGATGCAT
1261 TTTGTCCGCAGTGATGAGCTGCGTGAGGCCTGGCGTATTTTCACTCCACTGCTCCACAAG
1321 ATTGAGACAGAGAAAAGCAAACCAATTTCCTATCGCTACGGCAGTCGTGGGCCCAAGGAA
1381 GCTGATGAGCTGATGAAGGAGGTTGGATTCCAGTATGAAGGCACTTACCGCTGGGTCAAC
1441 CCTCACAAGCTGTGA
Predicted Protein Product |
FFVLYLQGDLAKKKIYPTIWWLYRDGLLPDDTYVVGYARSQLTVADIRKQSQPYLKATPE
EEQKLNDFFARNSYISGKYDDQASFERLNAHLNALHNGDKANRLFYLALPPSVYEHVTAN
IRHTCMSTVTSGWNRVIVEKPFGKDLESSNKLSNHISGLFREDQIYRIDHYLGKEMVQNL
MVLRFGNRIFGPIWNRDNVACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLV
AMEKPASTNSDDVRDEKVKVLKCISEAKPENVVLGQYVGDPSGQGEAQKGYLDDPTVPAG
STTPTFAAAVLYVDNERWDGVPFVLRCGKALNERKAEVRLQFREVPGDIFQRQCKRNELV
IRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKGVKLPDAYERLILDVFCGSQMH
FVRSDELREAWRIFTPLLHKIETEKSKPISYRYGSRGPKEADELMKEVGFQYEGTYRWVN
PHKL
Protein Alignment to Mouse |
sp|Q00612|G6PD1_MOUSE Glucose-6-phosphate 1-dehydrogenase X OS=Mus musculus
GN=G6pdx PE=1 SV=3
MGI:105979 G6pdx glucose-6-phosphate dehydrogenase X-linked (Chr X)
Length = 515
Score = 2221 (786.9 bits), Expect = 6.5e-231, P = 6.5e-231
Identities = 408/484 (84%), Positives = 447/484 (92%)
Query: 1 FFVLYLQGDLAKKKIYPTIWWLYRDGLLPDDTYVVGYARSQLTVADIRKQSQPYLKATPE 60
F ++ GDLAKKKIYPTIWWL+RDGLLP+DT++VGYARS+LTV DIRKQS+P+ KATPE
Sbjct: 34 FIIMGASGDLAKKKIYPTIWWLFRDGLLPEDTFIVGYARSRLTVDDIRKQSEPFFKATPE 93
Query: 61 EEQKLNDFFARNSYISGKYDDQASFERLNAHLNALHNGDKANRLFYLALPPSVYEHVTAN 120
E KL +FFARNSY++G+YDD AS++ LN+H+NALH G +ANRLFYLALPP+VYE VT N
Sbjct: 94 ERPKLEEFFARNSYVAGQYDDAASYKHLNSHMNALHQGMQANRLFYLALPPTVYEAVTKN 153
Query: 121 IRHTCMSTVTSGWNRVIVEKPFGKDLESSNKLSNHISGLFREDQIYRIDHYLGKEMVQNL 180
I+ TCMS +GWNR+IVEKPFG+DL+SSN+LSNHIS LFREDQIYRIDHYLGKEMVQNL
Sbjct: 154 IQETCMSQ--TGWNRIIVEKPFGRDLQSSNQLSNHISSLFREDQIYRIDHYLGKEMVQNL 211
Query: 181 MVLRFGNRIFGPIWNRDNVACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLV 240
MVLRF NRIFGPIWNRDN+ACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLV
Sbjct: 212 MVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLV 271
Query: 241 AMEKPASTNSDDVRDEKVKVLKCISEAKPENVVLGQYVGDPSGQGEAQKGYLDDPTVPAG 300
AMEKPA+T SDDVRDEKVKVLKCISE + +NVVLGQYVG+P+G+GEA GYLDDPTVP G
Sbjct: 272 AMEKPATTGSDDVRDEKVKVLKCISEVETDNVVLGQYVGNPNGEGEAANGYLDDPTVPHG 331
Query: 301 STTPTFAAAVLYVDNERWDGVPFVLRCGKALNERKAEVRLQFREVPGDIFQRQCKRNELV 360
STT TFAAAVLYV+NERWDGVPF+LRCGKALNERKAEVRLQFR+V GDIF +QCKRNELV
Sbjct: 332 STTATFAAAVLYVENERWDGVPFILRCGKALNERKAEVRLQFRDVAGDIFHQQCKRNELV 391
Query: 361 IRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKGVKLPDAYERLILDVFCGSQMH 420
IRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYK VKLPDAYERLILDVFCGSQMH
Sbjct: 392 IRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMH 451
Query: 421 FVRSDELREAWRIFTPLLHKIETEKSKPISYRYGSRGPKEADELMKEVGFQYEGTYRWVN 480
FVRSDELREAWRIFTPLLHKI+ EK +PI Y YGSRGP EADELMK VGFQYEGTY+WVN
Sbjct: 452 FVRSDELREAWRIFTPLLHKIDREKPQPIPYVYGSRGPTEADELMKRVGFQYEGTYKWVN 511
Query: 481 PHKL 484
PHKL
Sbjct: 512 PHKL 515
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