Reviewed,
UniProtKB/Swiss-Prot O95479 (G6PE_HUMAN)
Last modified
November 25, 2008.
Version 79.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: GDH/6PGL endoplasmic bifunctional protein Including the following 2 domains: 1- Recommended name: Glucose 1-dehydrogenase EC=1.1.1.47 Alternative name(s): Hexose-6-phosphate dehydrogenase 2- Recommended name: 6-phosphogluconolactonase Short name=6PGL EC=3.1.1.31 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 791 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates. |
| Catalytic activity | Beta-D-glucose + NAD(P)(+) = D-glucono-1,5-lactone + NAD(P)H. D-glucose 6-phosphate + NAD(P)(+) = D-glucono-1,5-lactone 6-phosphate + NAD(P)H. 6-phospho-D-glucono-1,5-lactone + H(2)O = 6-phospho-D-gluconate. |
| Subcellular location | Endoplasmic reticulum lumen. Note= Microsomes, endoplasmic reticulum lumen. |
| Tissue specificity | Present in most tissues examined, strongest in liver. |
| Involvement in disease | 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). |
| Sequence similarities | In the N-terminal section; belongs to the glucose-6-phosphate dehydrogenase family. In the C-terminal section; belongs to the glucosamine/galactosamine-6-phosphate isomerase family. 6-phosphogluconolactonase subfamily. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 19 | 19 | By similarity | ||||||
| Chain | 20 – 791 | 772 | GDH/6PGL endoplasmic bifunctional protein | PRO_0000010442 | |||||
Regions | |||||||||
| Region | 20 – 526 | 507 | Glucose 1-dehydrogenase | ||||||
| Region | 527 – 540 | 14 | Linker | ||||||
| Region | 541 – 791 | 251 | 6-phosphogluconolactonase | ||||||
Sites | |||||||||
| Active site | 267 | 1 | Proton acceptor By similarity | ||||||
| Binding site | 34 | 1 | NADP By similarity | ||||||
| Binding site | 66 | 1 | NADP By similarity | ||||||
| Binding site | 204 | 1 | Substrate By similarity | ||||||
| Binding site | 208 | 1 | Substrate By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 20 | 1 | Pyrrolidone carboxylic acid By similarity | ||||||
| Modified residue | 316 | 1 | Phosphotyrosine | ||||||
| Glycosylation | 157 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 282 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 683 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Natural variant | 453 | 1 | R → Q in CDR; less than 50% of activity than wild-type. | VAR_026487 | |||||
Experimental info | |||||||||
| Sequence conflict | 151 | 1 | D → A in CAH18137. Ref.2 | ||||||
| Sequence conflict | 339 | 1 | A → G in CAA10071. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression." Mason P.J., Stevens D., Diez A., Knight S.W., Scopes D.A., Vulliamy T.J. Blood Cells Mol. Dis. 25:30-36(1999) [PubMed: 10349511] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Bone marrow. |
| [2] | The German cDNA consortium Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-453. Tissue: Salivary gland. |
| [3] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-453. Tissue: Testis. |
| [5] | "Tyrosine phosphorylated Par3 regulates epithelial tight junction assembly promoted by EGFR signaling." Wang Y., Du D., Fang L., Yang G., Zhang C., Zeng R., Ullrich A., Lottspeich F., Chen Z. EMBO J. 25:5058-5070(2006) [PubMed: 17053785] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-316, MASS SPECTROMETRY. |
| [6] | "Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency." Draper N., Walker E.A., Bujalska I.J., Tomlinson J.W., Chalder S.M., Arlt W., Lavery G.G., Bedendo O., Ray D.W., Laing I., Malunowicz E., White P.C., Hewison M., Mason P.J., Connell J.M., Shackleton C.H.L., Stewart P.M. Nat. Genet. 34:434-439(2003) [PubMed: 12858176] [Abstract] Cited for: VARIANT CDR GLN-453, CHARACTERIZATION OF VARIANT CDR GLN-453. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AJ012590 mRNA. Translation: CAA10071.1. CR749282 mRNA. Translation: CAH18137.1. Different initiation. Z98044 Genomic DNA. Translation: CAI95702.1. BC081559 mRNA. Translation: AAH81559.1. | |
| RefSeq | NP_004276.2. |
| UniGene | Hs.463511 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1QKI based on UniProtKB P11413. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | O95479. |
Genome annotation databases | |
| Ensembl | ENSG00000049239. Homo sapiens. [Contig view] |
| GeneID | 9563. |
| KEGG | hsa:9563. |
| NMPDR | fig|9606.3.peg.223. |
Organism-specific databases | |
| H-InvDB | HIX0000104. |
| HGNC | HGNC:4795. H6PD. |
| HPA | HPA004824. HPA005440. |
| MIM | 138090. gene. 604931. phenotype. |
| PharmGKB | PA29170. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | O95479. |
| HOVERGEN | O95479. |
Gene expression databases | |
| ArrayExpress | O95479. |
| CleanEx | HS_H6PD. |
| GermOnline | ENSG00000049239. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001282. Glc-6-P_DHase. IPR006148. Gluc_gal_isom. IPR016040. NAD(P)-bd. IPR005900. Phosphogluconlac. [Graphical view] |
| Gene3D | G3DSA:3.40.50.720. NAD(P)-bd. 1 hit. |
| PANTHER | PTHR23429. G6PDH. 1 hit. |
| Pfam | PF02781. G6PD_C. 1 hit. PF00479. G6PD_N. 1 hit. PF01182. Glucosamine_iso. 1 hit. [Graphical view] |
| PRINTS | PR00079. G6PDHDRGNASE. |
| ProDom | PD001129. G6PD. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| TIGRFAMs | TIGR01198. pgl. 1 hit. |
| PROSITE | PS00069. G6P_DEHYDROGENASE. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00157. NADH. |
| NextBio | 35867. |
| SOURCE | Search... |
Entry information
| Entry name | G6PE_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O95479 Secondary accession number(s): Q4TT33, Q66I35, Q68DT3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


