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MGP001124

UniProt Annotations

Entry Information

Gene Name	solute carrier family 37 (glucose-6-phosphate transporter), member 4
Protein Entry	G6PT1_HUMAN
UniProt ID	O43826
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43826-1; Sequence=Displayed; Name=2; IsoId=O43826-2; Sequence=VSP_006171;
Disease	Glycogen storage disease 1B (GSD1B) [MIM:232220]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease. {ECO:0000269\|PubMed:10026167, ECO:0000269\|PubMed:10482875, ECO:0000269\|PubMed:10482962, ECO:0000269\|PubMed:10518030, ECO:0000269\|PubMed:10874322, ECO:0000269\|PubMed:10923042, ECO:0000269\|PubMed:10931421, ECO:0000269\|PubMed:11071391, ECO:0000269\|PubMed:11949931, ECO:0000269\|PubMed:12409273, ECO:0000269\|PubMed:15059622, ECO:0000269\|PubMed:15669677, ECO:0000269\|PubMed:15953877, ECO:0000269\|PubMed:19579760, ECO:0000269\|PubMed:21629566, ECO:0000269\|PubMed:9428641, ECO:0000269\|PubMed:9675154, ECO:0000269\|PubMed:9758626, ECO:0000269\|PubMed:9781688, ECO:0000269\|PubMed:9856496, ECO:0000269\|Ref.19}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Glycogen storage disease 1C (GSD1C) [MIM:232240]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. {ECO:0000269\|PubMed:10482962}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Glycogen storage disease 1D (GSD1D) [MIM:232240]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Transports glucose-6-phosphate from the cytoplasm to the lumen of the endoplasmic reticulum. Forms with glucose-6- phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels. {ECO:0000269\|PubMed:10026167}.
Sequence Caution	Sequence=AAF16691.1; Type=Frameshift; Positions=128; Evidence={ECO:0000305};
Similarity	Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family. {ECO:0000305}.
Subcellular Location	Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Tissue Specificity	Mostly expressed in liver and kidney.
Web Resource	Name=Mendelian genes solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/SLC37A4";