Human Gene SLC37A4 (uc010rys.1)
  Description: Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 1, mRNA.
RefSeq Summary (NM_001164277): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr11:118,895,061-118,901,616 Size: 6,556 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr11:118,895,620-118,900,079 Size: 4,460 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:118,895,061-118,901,616)mRNA (may differ from genome)Protein (429 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC37A4
CDC HuGE Published Literature: SLC37A4

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC37A4
Diseases sorted by gene-association score: glycogen storage disease ib* (1318), glycogen storage disease ic* (1300), glycogen storage disease ia* (368), glycogen storage disease (18), neutropenia (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.66 RPKM in Liver
Total median expression: 338.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -359.99757-0.476 Picture PostScript Text
3' UTR -194.90559-0.349 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011701 - MFS
IPR020846 - MFS_dom
IPR016196 - MFS_dom_general_subst_transpt
IPR021159 - Sugar-P_transporter_CS
IPR000849 - Sugar_P_transporter

Pfam Domains:
PF07690 - Major Facilitator Superfamily

SCOP Domains:
103473 - MFS general substrate transporter

ModBase Predicted Comparative 3D Structure on O43826
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005215 transporter activity
GO:0015152 glucose-6-phosphate transmembrane transporter activity
GO:0015297 antiporter activity
GO:0022857 transmembrane transporter activity
GO:0061513 glucose 6-phosphate:inorganic phosphate antiporter activity

Biological Process:
GO:0006006 glucose metabolic process
GO:0006094 gluconeogenesis
GO:0008643 carbohydrate transport
GO:0015760 glucose-6-phosphate transport
GO:0035435 phosphate ion transmembrane transport
GO:0042593 glucose homeostasis
GO:0055085 transmembrane transport

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.
JD128673 - Sequence 109697 from Patent EP1572962.
JD129682 - Sequence 110706 from Patent EP1572962.
JD405844 - Sequence 386868 from Patent EP1572962.
JD458634 - Sequence 439658 from Patent EP1572962.
JD544741 - Sequence 525765 from Patent EP1572962.
JD390032 - Sequence 371056 from Patent EP1572962.
JD231766 - Sequence 212790 from Patent EP1572962.
JD256219 - Sequence 237243 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

-  Other Names for This Gene
  Alternate Gene Symbols: G6PT, G6PT1, G6PT1_HUMAN, NM_001164277, NP_001157749, O43826, O96016, PRO0685, Q5J7V4, Q9UI19, Q9UNS4, TRG19
UCSC ID: uc010rys.1
RefSeq Accession: NM_001164277
Protein: O43826 (aka G6PT1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC37A4:
gsd1 (Glycogen Storage Disease Type I)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001164277.1
exon count: 11CDS single in 3' UTR: no RNA size: 2621
ORF size: 1291CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 553.00frame shift in genome: no % Coverage: 99.31
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.