Description: Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 3, mRNA. RefSeq Summary (NM_001164279): This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]. Transcript (Including UTRs) Position: hg19 chr11:118,895,061-118,901,616 Size: 6,556 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr11:118,895,620-118,899,065 Size: 3,446 Coding Exon Count: 8
ID:G6PT1_HUMAN DESCRIPTION: RecName: Full=Glucose-6-phosphate translocase; AltName: Full=Glucose-5-phosphate transporter; AltName: Full=Solute carrier family 37 member 4; AltName: Full=Transformation-related gene 19 protein; Short=TRG-19; 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. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). TISSUE SPECIFICITY: Mostly expressed in liver and kidney. DISEASE: Defects in SLC37A4 are the cause of glycogen storage disease type 1B (GSD1B) [MIM:232220]. GSD1B is a metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. GSD1 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. GSD1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease. DISEASE: Defects in SLC37A4 are the cause of glycogen storage disease type 1C (GSD1C) [MIM:232240]. DISEASE: Defects in SLC37A4 are the cause of glycogen storage disease type 1D (GSD1D) [MIM:232240]. SIMILARITY: Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family. SEQUENCE CAUTION: Sequence=AAF16691.1; Type=Frameshift; Positions=128; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC37A4"; 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";
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.
Pfam Domains: PF07690 - Major Facilitator Superfamily
SCOP Domains: 103473 - MFS general substrate transporter
ModBase Predicted Comparative 3D Structure on O43826
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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.
Cellular Component: GO:0005783 endoplasmic reticulum GO:0005789 endoplasmic reticulum membrane GO:0016020 membrane GO:0016021 integral component of membrane GO:0030176 integral component of endoplasmic reticulum membrane
Descriptions from all associated GenBank mRNAs
AF111852 - Homo sapiens PRO0685 mRNA, complete cds. Y15409 - Homo sapiens mRNA for putative glucose 6-phosphate translocase. BC064563 - Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4, mRNA (cDNA clone MGC:74648 IMAGE:5580134), complete cds. BC002400 - Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4, mRNA (cDNA clone MGC:8501 IMAGE:2822215), complete cds. BC003589 - Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4, mRNA (cDNA clone MGC:4194 IMAGE:2822215), complete cds. BC015650 - Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4, mRNA (cDNA clone MGC:23429 IMAGE:4660508), complete cds. BC014663 - Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4, mRNA (cDNA clone MGC:23074 IMAGE:4857067), complete cds. AB209026 - Homo sapiens mRNA for solute carrier family 37 (glycerol-6-phosphate transporter), member 4 variant protein. JD265583 - Sequence 246607 from Patent EP1572962. JD495656 - Sequence 476680 from Patent EP1572962. JD466648 - Sequence 447672 from Patent EP1572962. JD394175 - Sequence 375199 from Patent EP1572962. JD146850 - Sequence 127874 from Patent EP1572962. JD280351 - Sequence 261375 from Patent EP1572962. AK298395 - Homo sapiens cDNA FLJ51721 complete cds, highly similar to Glucose-6-phosphate translocase. JD195284 - Sequence 176308 from Patent EP1572962. AK289642 - Homo sapiens cDNA FLJ78551 complete cds, highly similar to Homo sapiens solute carrier family 37 (glycerol-6-phosphate transporter), member 4 (SLC37A4), mRNA. JD055338 - Sequence 36362 from Patent EP1572962. JD145870 - Sequence 126894 from Patent EP1572962. JD159718 - Sequence 140742 from Patent EP1572962. JD163631 - Sequence 144655 from Patent EP1572962. AK300646 - Homo sapiens cDNA FLJ51651 complete cds, highly similar to Glucose-6-phosphate translocase. AF110819 - Homo sapiens glucose-6-phosphate translocase mRNA, complete cds. AF110820 - Homo sapiens glucose-6-phosphate translocase mRNA, complete cds. AF110821 - Homo sapiens glucose-6-phosphate translocase mRNA, sequence. AF110822 - Homo sapiens glucose-6-phosphate translocase mRNA, sequence. AY423732 - Homo sapiens transformation-related gene 19 protein mRNA, complete cds. AK312628 - Homo sapiens cDNA, FLJ93012. CR456733 - Homo sapiens full open reading frame cDNA clone RZPDo834B0411D for gene SLC37A4, solute carrier family 37 (glycerol-6-phosphate transporter), member 4; complete cds, incl. stopcodon. HQ448291 - Synthetic construct Homo sapiens clone IMAGE:100071695; CCSB007595_04 solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4) gene, encodes complete protein. KJ891208 - Synthetic construct Homo sapiens clone ccsbBroadEn_00602 SLC37A4 gene, encodes complete protein. AK294993 - Homo sapiens cDNA FLJ51652 complete cds, highly similar to Glucose-6-phosphate translocase. CU677381 - Synthetic construct Homo sapiens gateway clone IMAGE:100017249 5' read SLC37A4 mRNA. JD277319 - Sequence 258343 from Patent EP1572962. JD039113 - Sequence 20137 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein O43826 (Reactome details) participates in the following event(s):
R-HSA-198513 Cytosolic glucose 6-phosphate is exchanged for orthophosphate from the endoplasmic reticulum lumen by SLC37A4 R-HSA-70263 Gluconeogenesis R-HSA-70326 Glucose metabolism R-HSA-71387 Metabolism of carbohydrates R-HSA-1430728 Metabolism