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H6PD
HPA
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  • H6PD
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

H6PD
Synonyms GDH, H6PDH
Gene descriptioni

Full gene name according to HGNC.

Hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 1
Cytoband p36.22
Chromosome location (bp) 9234774 - 9271337
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

2
Ensembl ENSG00000049239 (version 109)
Entrez gene 9563
HGNC HGNC:4795
UniProt O95479 (UniProt - Evidence at protein level)
neXtProt NX_O95479
GeneCards H6PD
Antibodypedia H6PD antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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 1, 2, 3. 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 4, 5, 6. 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 7.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Hydrolase, Multifunctional enzyme, Oxidoreductase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Carbohydrate metabolism, Glucose metabolism
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

NAD, NADP
Gene summary (Entrez)i

Useful information about the gene from Entrez

There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
H6PD-201
ENSP00000366620
ENST00000377403
O95479
[Direct mapping] GDH/6PGL endoplasmic bifunctional protein Hexose-6-phosphate dehydrogenase 6-phosphogluconolactonase
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   Hydrolases
Metabolic proteins
   SPOCTOPUS predicted membrane proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepTMHMM predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Endocrine and metabolic diseases
   Adrenal gland diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0003824 [catalytic activity]
GO:0004345 [glucose-6-phosphate dehydrogenase activity]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005783 [endoplasmic reticulum]
GO:0005788 [endoplasmic reticulum lumen]
GO:0005975 [carbohydrate metabolic process]
GO:0006006 [glucose metabolic process]
GO:0006098 [pentose-phosphate shunt]
GO:0006739 [NADP metabolic process]
GO:0008152 [metabolic process]
GO:0009051 [pentose-phosphate shunt, oxidative branch]
GO:0016491 [oxidoreductase activity]
GO:0016614 [oxidoreductase activity, acting on CH-OH group of donors]
GO:0016787 [hydrolase activity]
GO:0017057 [6-phosphogluconolactonase activity]
GO:0030246 [carbohydrate binding]
GO:0031667 [response to nutrient levels]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0047934 [glucose 1-dehydrogenase (NAD+) activity]
GO:0047935 [glucose 1-dehydrogenase (NADP+) activity]
GO:0047936 [glucose 1-dehydrogenase [NAD(P)] activity]
GO:0050661 [NADP binding]
GO:0097305 [response to alcohol]
GO:2000064 [regulation of cortisol biosynthetic process]
Show all
791 aa
88.9 kDa
Yes 0
H6PD-203
ENSP00000473348
ENST00000602477
O95479
[Direct mapping] GDH/6PGL endoplasmic bifunctional protein Hexose-6-phosphate dehydrogenase 6-phosphogluconolactonase
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   Hydrolases
Metabolic proteins
   THUMBUP predicted membrane proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepTMHMM predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Endocrine and metabolic diseases
   Adrenal gland diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0003824 [catalytic activity]
GO:0004345 [glucose-6-phosphate dehydrogenase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005788 [endoplasmic reticulum lumen]
GO:0005975 [carbohydrate metabolic process]
GO:0006006 [glucose metabolic process]
GO:0006098 [pentose-phosphate shunt]
GO:0008152 [metabolic process]
GO:0009051 [pentose-phosphate shunt, oxidative branch]
GO:0016491 [oxidoreductase activity]
GO:0016614 [oxidoreductase activity, acting on CH-OH group of donors]
GO:0016787 [hydrolase activity]
GO:0017057 [6-phosphogluconolactonase activity]
GO:0047934 [glucose 1-dehydrogenase (NAD+) activity]
GO:0047935 [glucose 1-dehydrogenase (NADP+) activity]
GO:0047936 [glucose 1-dehydrogenase [NAD(P)] activity]
GO:0050661 [NADP binding]
GO:2000064 [regulation of cortisol biosynthetic process]
Show all
802 aa
90.2 kDa
Yes 0

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