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Aliases & Descriptions for H6PD
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| 6-phosphogluconolactonase 2 | | DKFZp686A01246 2 | | G6PDH 2, 5 | | GDH 2, 3, 5 | | MGC87643 2 | | OTTHUMP00000001703 2 |
| | | Descriptions |
|---|
| G6PD, H form 2 | | GDH/6PGL endoplasmic bifunctional protein 2 | | glucose 1- dehydrogenase 2 | | glucose dehydrogenase 2 | | glucose dehyrogenase 1, 2 | | glucose-6-phosphate dehydrogenase, salivary 2 | | hexose-6-phosphate dehydrogenase 2 | | hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 2 |
|
| | Search outside databases for aliases for H6PD genePrevious GC identifers: GC01P008915 GC01P009105 GC01P009004 |
Summaries for H6PD(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for H6PD: 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] UniProtKB/Swiss-Prot: G6PE_HUMAN, O95479Function: Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphatesGene Wiki entry for H6PD |
Genomic Location for H6PD
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the H6PD gene 
Entrez Gene cytogenetic band: 1p36 Ensembl cytogenetic band: 1p36.22 HGNC cytogenetic band: 1p36H6PD Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P009229:
(about GC identifiers)
Start:
|
9,217,450 bp from pter |
End:
|
9,253,983 bp from pter |
Size:
|
36,534 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000001.9 NT_021937.18
| Proteins for H6PD
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: G6PE_HUMAN, O95479 (See
protein sequence)Recommended Name: GDH/6PGL endoplasmic bifunctional protein precursor Size: 791 amino acids; 88893 Da
Subcellular location: Endoplasmic reticulum lumen. Note=Microsomes, endoplasmic reticulum lumen
Secondary accessions: Q4TT33 Q66I35 Q68DT3Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_004276.2
ENSEMBL proteins: ENSP00000366620
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for H6PD: Assays for H6PD: | Protein
Domains/ Families for H6PD(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry O95479
ProtoNet protein and cluster: O95479 UniProtKB/Swiss-Prot: G6PE_HUMAN, O95479Similarity: In the N-terminal section; belongs to the glucose-6-phosphate dehydrogenase familySimilarity: In the C-terminal section; belongs to the glucosamine/galactosamine-6-phosphate isomerase family. 6-phosphogluconolactonase subfamily | Gene Function for H6PD
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004285
Applied Biosystems Silencer® siRNAs for H6PD
Sigma-Aldrich siRNA for H6PD  Sigma-Aldrich shRNA for H6PD  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004285                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004285                                  untagged cDNA clones in CMV expression vector (see all 4): AK024548 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004285
UniProtKB/Swiss-Prot: G6PE_HUMAN, O95479Function: Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphatesCatalytic activity: Beta-D-glucose + NAD(P)(+) = D-glucono-1,5-lactone + NAD(P)HCatalytic activity: D-glucose 6-phosphate + NAD(P)(+) = D-glucono-1,5-lactone 6-phosphate + NAD(P)HCatalytic activity: 6-phospho-D-glucono-1,5-lactone + H(2)O = 6-phospho-D-gluconate2 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for H6pd):
5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
): About this table | Pathways & Interactions for H6PD
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 2 Sigma-Aldrich "Your Favorite Gene" Pathways for H6PD (Your Favorite Gene powered by Ingenuity) 
4 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005975 | carbohydrate metabolic process |
IEA | -- | | GO:0006006 | glucose metabolic process |
IEA | -- | | GO:0006098 | pentose-phosphate shunt |
IEA | -- | | GO:0055114 | oxidation reduction |
IEA | -- | About this table
|
Drugs & Compounds for H6PD(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for H6PD 10/63 Novoseek chemical compound relationships for H6PD gene (see all 63
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| glucose 6-phosphate |
92.79 |
179 |
7781912 (2), 9392523 (2), 17137780 (2), 1563647 (1) (see all 99) |
| pyrroloquinoline quinone |
86.14 |
20 |
16131222 (2), 10933491 (1), 11225357 (1), 16750941 (1) (see all 10) |
| 11beta-hydroxysteroid |
85.51 |
32 |
18622204 (4), 18381077 (2), 18963204 (2), 19010388 (2) (see all 19) |
| o-ethylhydroxylamine |
80.77 |
1 |
10087986 (1) |
| no-dimethylhydroxylamine |
79.03 |
2 |
9137808 (1) |
| neotetrazolium |
77.54 |
5 |
7930518 (3), 9306960 (1) |
| nadph |
73.69 |
44 |
12858176 (2), 10329961 (2), 17303087 (2), 8466510 (1) (see all 34) |
| 6-phosphogluconate |
73.43 |
13 |
8470806 (1), 11072071 (1), 1381200 (1), 7781912 (1) (see all 11) |
| glucose |
68.95 |
261 |
17365439 (5), 8082531 (4), 16556607 (4), 7764620 (3) (see all 99) |
| nadp+ |
63.76 |
13 |
9508091 (2), 15774558 (1), 18778749 (1), 16556607 (1) (see all 10) |
About this table
|
Transcripts for H6PD(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004285
Sigma-Aldrich siRNA for H6PD  Sigma-Aldrich shRNA for H6PD  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_004285 REFSEQ mRNAs for H6PD gene: NM_004285.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004285               OriGene GFP tagged cDNA clone in CMV expression vector: NM_004285                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004285                                  untagged cDNA clones in CMV expression vector (see all 4): AK024548  Additional cDNA sequence: AJ012590.1 AK024548.1 AK026460.1 AK091191.1 AL832271.1 AL833024.1 AY142148.1 BC007368.2 BC026099.1 BC044256.1 BC069028.1 BC081559.1 BC098450.1 CR749282.1 10 DOTS entries: DT.40133057 DT.439862 DT.92418967 DT.100783194 DT.100786227 DT.121337152 DT.121337183 DT.86846264 DT.121496200 DT.99974386 24/161 AceView cDNA sequences (see all 161
):BU071074 AL707973 BU429746 AI867461 BQ706722 AI744639 AI264583 BQ436379 CD367658 BF744875 AJ012590 NM_004285 BU070635 AL602889 CB989699 BQ671499 CK902392 BQ675151 AK024548 AI362636 CA420503 BC044256 AA609834 AL041815
highest scoring ESTs for H6PD:AA625448 AJ012590 AA333441 AA780061 AA831268 AI077979 AI241305 AI264583 AI274342 AI281221 Unigene Cluster for H6PD: Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) Hs.463511 [show with all ESTs]Unigene Representative Sequence: NM_004285
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000377403
|
Expression for H6PD
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| H6PD expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for H6PD
1 / 2 / 3 11 probe-sets matching H6PD gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CCTGGCCAGA
SOURCE GeneReport for Unigene cluster: Hs.463511
Expression variation in blood from EXPOLDB for H6PD UniProtKB/Swiss-Prot: G6PE_HUMAN, O95479Tissue specificity: Present in most tissues examined, strongest in liver |
Orthologs for H6PD
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for H6PD gene from 5/7 species (see all 7
)
About this table Species with no ortholog for H6PD
ENSEMBL Gene Tree for H6PD | Paralogs for H6PD(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for H6PD gene
- G6PD2 PGLS2
|
SNPs/Variants for H6PD(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for H6PD (up to first 250kb)
|
Disorders & Mutations for H6PD
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 138090 disorders: 604931 UniProtKB/Swiss-Prot: G6PE_HUMAN, O95479
Defects in H6PD are a cause of cortisone reductase deficiency (CRD) [MIM:604931]. In CRD, activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS)10/30 Novoseek disease relationships for H6PD gene (see all 30
)
About this table
Human Gene Mutation Database: H6PD Genetic Association Database: H6PD Human Genome Epidemiology Navigator: H6PD (3 documents)
|
Medical News for H6PD(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for H6PD (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/314 PubMed articles for H6PD gene (see all 314
):- Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression. (PubMed id 10349511)1, 2, 3, 4 Mason P.J....Vulliamy T.J. (1999)
- Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample. (PubMed id 16091483)1, 3, 6 White P.C. (2005)
- Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. (PubMed id 12858176)1, 3, 4 Draper N....Stewart P.M. (2003)
- A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome. (PubMed id 15827106)1, 3, 6 San Millan J.L....Escobar-Morreale H.F. (2005)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)3, 4 Gregory S.G.... Bentley D.R. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Constant expression of hexose-6-phosphate dehydrogenase during differentiation of human adipose-derived mesenchymal stem cells. (PubMed id 18586838)1, 3 Senesi S....Benedetti A. (2008)
- Adipose tissue 11-beta-Hydroxysteroid Dehydrogenase Type 1 and Hexose-6-Phosphate Dehydrogenase gene expressions are increased in patients with type 2 diabetes mellitus. (PubMed id 18963204)1, 3 UAskaya G....Kutlu M. (2008)
- Hexose-6-phosphate dehydrogenase modulates the effect of inhibitors and alternative substrates of 11beta-hydroxysteroid dehydrogenase 1. (PubMed id 19010388)1, 3 BalA!zs Z....Odermatt A. (2009)
- H6PDH interacts directly with 11beta-HSD1: implications for determining the directionality of glucocorticoid catalysis. (PubMed id 19121282)1, 3 Zhang Y.L....Suri V. (2009)
|
Search for H6PD
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing H6PD
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing H6PD
(According to HUGE)
About This Section
| -- |
Specialized Databases showing H6PD(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for H6PD(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for H6PD:

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