Description: Homo sapiens glucose 6 phosphatase, catalytic, 3 (G6PC3), transcript variant 1, mRNA. RefSeq Summary (NM_138387): This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. Transcript (Including UTRs) Position: hg19 chr17:42,148,098-42,153,712 Size: 5,615 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr17:42,148,334-42,153,411 Size: 5,078 Coding Exon Count: 6
ID:G6PC3_HUMAN DESCRIPTION: RecName: Full=Glucose-6-phosphatase 3; Short=G-6-Pase 3; Short=G6Pase 3; EC=3.1.3.9; AltName: Full=Glucose-6-phosphatase beta; Short=G6Pase-beta; AltName: Full=Ubiquitous glucose-6-phosphatase catalytic subunit-related protein; FUNCTION: Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. May form with the glucose-6-phosphate transporter (SLC37A4/G6PT) a ubiquitously expressed complex responsible for glucose production through glycogenolysis and gluconeogenesis. Probably required for normal neutrophil function. CATALYTIC ACTIVITY: D-glucose 6-phosphate + H(2)O = D-glucose + phosphate. ENZYME REGULATION: Inhibited by vanadate. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=1.0 mM for glucose-6-phosphate (at pH 5.5); KM=2.0 mM for glucose-6-phosphate (at pH 6.5); Note=8 times less active compared to G6PC under the same experimental conditions; PATHWAY: Carbohydrate biosynthesis; gluconeogenesis. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in skeletal muscle, at intermediate levels in heart, brain, placenta, kidney, colon, thymus, spleen and pancreas. Also detected in testis, prostate, ovary, liver, lung, small intestine and peripheral blood lymphocytes. DISEASE: Defects in G6PC3 are the cause of neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]. Autosomal recessive SCN constitutes a primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells. Individuals show a paucity of mature neutrophils in peripheral blood and bone marrow and develop life-threatening bacterial infections. SCN4 is a severe congenital neutropenia syndrome associated with cardiac and urogenital malformations. DISEASE: Defects in G6PC3 are the cause of Dursun syndrome (DURSS) [MIM:612541]. A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia. SIMILARITY: Belongs to the glucose-6-phosphatase family. CAUTION: According to PubMed:12370122, it has no hydrolytic activity.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BUM1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.