H6PD
entrez
9563
canonical
uniprot
O95479
canonical
ensembl
ENSG00000049239
resolver
ensp
ENSP00000366620
resolver
ensp
ENSP00000473348
resolver
ensp
ENSP00000561533
resolver
ensp
ENSP00000619045
resolver
ensp
ENSP00000619048
resolver
genesymbol
H6PD
resolver
genesymbol_syn
GDH
resolver
hgnc
HGNC:4795
resolver
uniprot
Q4TT33
resolver
uniprot
Q66I35
resolver
uniprot
Q68DT3
resolver
uniprot
R4GMU1
resolver
uniprot_entry
G6PE_HUMAN
resolver
uniprot_sec
Q4TT33
resolver
uniprot_sec
Q66I35
resolver
uniprot_sec
Q68DT3
resolver
uniprot_sec
R4GMU1
resolver
amino_acid_sequence
MWNMLIVAMCLALLGCLQAQELQGHVSIILLGATGDLAKKYLWQGLFQLYLDEAGRGHSFSFHGAALTAPKQGQELMAKALESLSCPKDMAPSHCAEHKDQFLQLSQYRQLKTAEDYQALNKDIEAQLQHAGLREAGRIFYFSVPPFAYEDIARNINSSCRPGPGAWLRVVLEKPFGHDHFSAQQLATELGTFFQEEEMYRVDHYLGKQAVAQILPFRDQNRKALDGLWNRHHVERVEIIMKETVDAEGRTSFYEEYGVIRDVLQNHLTEVLTLVAMELPHNVSSAEAVLRHKLQVFQALRGLQRGSAVVGQYQSYSEQVRRELQKPDSFHSLTPTFAAVLVHIDNLRWEGVPFILMSGKALDERVGYARILFKNQACCVQSEKHWAAAQSQCLPRQLVFHIGHGDLGSPAVLVSRNLFRPSLPSSWKEMEGPPGLRLFGSPLSDYYAYSPVRERDAHSVLLSHIFHGRKNFFITTENLLASWNFWTPLLESLAHKAPRLYPGGAENGRLLDFEFSSGRLFFSQQQPEQLVPGPGPAPMPSDFQVLRAKYRESPLVSAWSEELISKLANDIEATAVRAVRRFGQFHLALSGGSSPVALFQQLATAHYGFPWAHTHLWLVDERCVPLSDPESNFQGLQAHLLQHVRIPYYNIHPMPVHLQQRLCAEEDQGAQIYAREISALVANSSFDLVLLGMGADGHTASLFPQSPTGLDGEQLVVLTTSPSQPHRRMSLSLPLINRAKKVAVLVMGRMKREITTLVSRVGHEPKKWPISGVLPHSGQLVWYMDYDAFLG
uniprot
proteins
disease_involvement
DISEASE: Cortisone reductase deficiency 1 (CORTRD1) [MIM:604931]: An autosomal recessive error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic-pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo-amenorrhea, and infertility in females and premature pseudopuberty in males. {ECO:0000269|PubMed:12858176, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:18628520, ECO:0000269|PubMed:23132696}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.363
uniprot
proteins
ec_number
1.1.1.47
uniprot
proteins
ec_number
3.1.1.31
uniprot
proteins
function
FUNCTION: Bifunctional enzyme localized in the lumen of the endoplasmic reticulum that catalyzes the first two steps of the oxidative branch of the pentose phosphate pathway/shunt, an alternative to glycolysis and a major source of reducing power and metabolic intermediates for biosynthetic processes (By similarity). Has a hexose-6-phosphate dehydrogenase activity, with broad substrate specificity compared to glucose-6-phosphate 1-dehydrogenase/G6PD, and catalyzes the first step of the pentose phosphate pathway (PubMed:12858176, PubMed:18628520, PubMed:23132696). In addition, acts as a 6-phosphogluconolactonase and catalyzes the second step of the pentose phosphate pathway (By similarity). May have a dehydrogenase activity for alternative substrates including glucosamine 6-phosphate and glucose 6-sulfate (By similarity). The main function of this enzyme is to provide reducing equivalents such as NADPH to maintain the adequate levels of reductive cofactors in the oxidizing environment of the endoplasmic reticulum (PubMed:12858176, PubMed:18628520, PubMed:23132696). By producing NADPH that is needed by reductases of the lumen of the endoplasmic reticulum like corticosteroid 11-beta-dehydrogenase isozyme 1/HSD11B1, indirectly regulates their activity (PubMed:18628520). {ECO:0000250|UniProtKB:Q8CFX1, ECO:0000269|PubMed:12858176, ECO:0000269|PubMed:18628520, ECO:0000269|PubMed:23132696}.
uniprot
proteins
mass_dalton
88893
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:12858176, ECO:0000269|PubMed:18628520, ECO:0000269|PubMed:23132696}.; PATHWAY: Carbohydrate degradation; pentose phosphate pathway; D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 2/3. {ECO:0000250|UniProtKB:Q8CFX1}.; PATHWAY: Carbohydrate degradation; pentose phosphate pathway; D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage). {ECO:0000250|UniProtKB:Q8CFX1}.
uniprot
proteins
protein_family
6-phosphogluconolactonase subfamily
uniprot
proteins
protein_family
Glucose-6-phosphate dehydrogenase family; Glucosamine/galactosamine-6-phosphate isomerase family
uniprot
proteins
pubmed
10349511
uniprot
proteins
pubmed
12858176
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18628520
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
23132696
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
791
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000305|PubMed:18628520}.
uniprot
proteins