G6PC3

G6PC3
Identifiers
Aliases	G6PC3 , SCN4, UGRP, glucose 6 phosphatase catalytic subunit 3, glucose-6-phosphatase catalytic subunit 3
External IDs	OMIM: 611045; MGI: 1915651; HomoloGene: 16304; GeneCards: G6PC3; OMA:G6PC3 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q21.31 Start 44,070,620 bp [1] End 44,082,151 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 D Start 102,080,446 bp [2] End 102,084,907 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior pituitary right adrenal gland right adrenal cortex left adrenal gland left adrenal cortex C1 segment right lobe of thyroid gland stromal cell of endometrium left lobe of thyroid gland apex of heart Top expressed in choroid plexus of fourth ventricle spermatocyte muscle of thigh right kidney seminiferous tubule spermatid yolk sac entorhinal cortex primary visual cortex genital tubercle More reference expression data BioGPS n/a
Gene ontology Molecular function hydrolase activity glucose-6-phosphatase activity Cellular component integral component of membrane integral component of endoplasmic reticulum membrane endoplasmic reticulum membrane membrane endoplasmic reticulum Biological process phosphate-containing compound metabolic process glucose 6-phosphate metabolic process glucose-6-phosphate transport dephosphorylation gluconeogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 92579 68401 Ensembl ENSG00000141349 ENSMUSG00000034793 UniProt Q9BUM1 Q6NSQ9 RefSeq (mRNA) NM_138387 NM_001319945 NM_001384165 NM_001384166 NM_001384167 NM_001384168 NM_175935 RefSeq (protein) NP_001306874 NP_612396 NP_001371094 NP_001371095 NP_001371096 NP_001371097 NP_787949 Location (UCSC) Chr 17: 44.07 – 44.08 Mb Chr 11: 102.08 – 102.08 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is encoded by the G6PC3 gene. ^{[5] [6] [7]}

Function

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. ^[5]

Clinical significance

Mutations in this gene result in autosomal recessive severe congenital neutropenia. ^[8]

G6PC3 deficiency results in a phenotypic continuum. ^{[9] [10]} At one end the affected individuals have only neutropenia and related complications but no other organ is affected. This is sometimes referred to as non-syndromic or isolated severe congenital neutropenia. ^[11] Most affected individuals have a classic form of the disease with severe congenital neutropenia and cardiovascular and/or urogenital abnormalities. ^{[12] [13]} Some individuals have severe G6PC3 deficiency (also known as Dursun syndrome) and they have all the features of classic G6PC3 deficiency but in addition show involvement of non-myeloid hematopoietic cell lines, some other extra-hematologic features and pulmonary hypertension. ^[14]

References

1. GRCh38: Ensembl release 89: ENSG00000141349 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034793 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: glucose 6 phosphatase".
6. Martin CC, Oeser JK, Svitek CA, Hunter SI, Hutton JC, O'Brien RM (October 2002). "Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein". Journal of Molecular Endocrinology. 29 (2): 205–22. doi: 10.1677/jme.0.0290205 . PMID   12370122.
7. Guionie O, Clottes E, Stafford K, Burchell A (September 2003). "Identification and characterisation of a new human glucose-6-phosphatase isoform". FEBS Letters. 551 (1–3): 159–64. Bibcode:2003FEBSL.551..159G. doi: 10.1016/S0014-5793(03)00903-7 . PMID   12965222. S2CID   38286129.
8. Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, et al. (January 2009). "A syndrome with congenital neutropenia and mutations in G6PC3". The New England Journal of Medicine. 360 (1): 32–43. doi:10.1056/NEJMoa0805051. PMC   2778311 . PMID   19118303.
9. Banka, Siddharth (1993). "G6PC3 Deficiency". GeneReviews. University of Washington, Seattle. PMID   25879134.
10. Banka S, Newman WG (June 2013). "A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations". Orphanet Journal of Rare Diseases. 8: 84. doi: 10.1186/1750-1172-8-84 . PMC   3718741 . PMID   23758768.
11. Banka S, Wynn R, Byers H, Arkwright PD, Newman WG (February 2013). "G6PC3 mutations cause non-syndromic severe congenital neutropenia". Molecular Genetics and Metabolism. 108 (2): 138–41. doi:10.1016/j.ymgme.2012.12.001. PMID   23298686.
12. Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, et al. (April 2012). "Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia". The Journal of Pediatrics. 160 (4): 679–683.e2. doi:10.1016/j.jpeds.2011.09.019. PMID   22050868.
13. Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J, Donnai D, Shalev S (January 2011). "Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3". European Journal of Human Genetics. 19 (1): 18–22. doi:10.1038/ejhg.2010.136. PMC   3039503 . PMID   20717171.
14. Banka S, Newman WG, Ozgül RK, Dursun A (October 2010). "Mutations in the G6PC3 gene cause Dursun syndrome". American Journal of Medical Genetics. Part A. 152A (10): 2609–11. doi: 10.1002/ajmg.a.33615 . PMID   20799326. S2CID   4151265.

Further reading

• Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K (July 2010). "Digenic mutations in severe congenital neutropenia". Haematologica. 95 (7): 1207–10. doi:10.3324/haematol.2009.017665. PMC   2895047 . PMID   20220065.
• Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J (May 2009). "Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians". Neuromuscular Disorders. 19 (5): 330–4. doi:10.1016/j.nmd.2008.01.007. PMID   18337100. S2CID   12780335.