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Aliases for SLC37A4 Gene

Aliases for SLC37A4 Gene

  • Solute Carrier Family 37 (Glucose-6-Phosphate Transporter), Member 4 2 3
  • G6PT1 3 4 6
  • Glucose-6-Phosphatase, Transport (Glucose-6-Phosphate) Protein 1 2 3
  • Transformation-Related Gene 19 Protein 3 4
  • Glucose-5-Phosphate Transporter 3 4
  • TRG-19 3 4
  • Glucose-6-Phosphatase, Transport (Phosphate/Pyrophosphate) Protein 2 3
  • Glucose-6-Phosphatase, Transport (Glucose) Protein 3 3
  • Microsomal Glucose-6-Phosphate Transporter 3
  • Solute Carrier Family 37 Member 4 4
  • Glucose-6-Phosphate Translocase 3
  • PRO0685 3
  • GSD1b 3
  • GSD1c 3
  • GSD1d 3
  • TRG19 3
  • G6PT2 3
  • G6PT3 3
  • G6PT 4

External Ids for SLC37A4 Gene

Previous Symbols for SLC37A4 Gene

  • G6PT1
  • G6PT2
  • G6PT3

Summaries for SLC37A4 Gene

Entrez Gene Summary for SLC37A4 Gene

  • 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]

GeneCards Summary for SLC37A4 Gene

SLC37A4 (Solute Carrier Family 37 (Glucose-6-Phosphate Transporter), Member 4) is a Protein Coding gene. Diseases associated with SLC37A4 include glycogen storage disease ic and juvenile hereditary hemochromatosis. Among its related pathways are Metabolism and MPS VI - Maroteaux-Lamy syndrome. GO annotations related to this gene include transporter activity and glucose-6-phosphate transmembrane transporter activity.

UniProtKB/Swiss-Prot for SLC37A4 Gene

  • 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.

Gene Wiki entry for SLC37A4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC37A4 Gene

Genomics for SLC37A4 Gene

Genomic Location for SLC37A4 Gene

Start:
119,024,114 bp from pter
End:
119,030,906 bp from pter
Size:
6,793 bases
Orientation:
Minus strand

Genomic View for SLC37A4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC37A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC37A4 Gene

Regulatory Elements for SLC37A4 Gene

Proteins for SLC37A4 Gene

  • Protein details for SLC37A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43826-G6PT1_HUMAN
    Recommended name:
    Glucose-6-phosphate translocase
    Protein Accession:
    O43826
    Secondary Accessions:
    • O96016
    • Q5J7V4
    • Q9UI19
    • Q9UNS4

    Protein attributes for SLC37A4 Gene

    Size:
    429 amino acids
    Molecular mass:
    46360 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF16691.1; Type=Frameshift; Positions=128; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC37A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC37A4 Gene

Proteomics data for SLC37A4 Gene at MOPED

Post-translational modifications for SLC37A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC37A4 Gene

No data available for DME Specific Peptides for SLC37A4 Gene

Domains for SLC37A4 Gene

Gene Families for SLC37A4 Gene

Protein Domains for SLC37A4 Gene

UniProtKB/Swiss-Prot:

G6PT1_HUMAN
Family:
  • Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family.:
    • O43826
genes like me logo Genes that share domains with SLC37A4: view

Function for SLC37A4 Gene

Molecular function for SLC37A4 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for SLC37A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 9428641
GO:0015152 glucose-6-phosphate transmembrane transporter activity IMP 12560945
genes like me logo Genes that share ontologies with SLC37A4: view
genes like me logo Genes that share phenotypes with SLC37A4: view

Animal Models for SLC37A4 Gene

MGI Knock Outs for SLC37A4:

miRNA for SLC37A4 Gene

miRTarBase miRNAs that target SLC37A4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC37A4 Gene

Localization for SLC37A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC37A4 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC37A4 Gene COMPARTMENTS Subcellular localization image for SLC37A4 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC37A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum NAS 212064
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane NAS 9428641
GO:0030176 integral component of endoplasmic reticulum membrane IDA 10318794
genes like me logo Genes that share ontologies with SLC37A4: view

Pathways for SLC37A4 Gene

genes like me logo Genes that share pathways with SLC37A4: view

Pathways by source for SLC37A4 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for SLC37A4 Gene
1 KEGG pathway for SLC37A4 Gene

Interacting Proteins for SLC37A4 Gene

Selected Interacting proteins: O43826-G6PT1_HUMAN for SLC37A4 Gene via I2D

Symbol External ID(s) Details
CLN3

Gene Ontology (GO) - Biological Process for SLC37A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001780 neutrophil homeostasis --
GO:0001816 cytokine production --
GO:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0002318 myeloid progenitor cell differentiation --
GO:0005975 carbohydrate metabolic process TAS --
genes like me logo Genes that share ontologies with SLC37A4: view

Compounds for SLC37A4 Gene

(1) HMDB Compounds for SLC37A4 Gene

Compound Synonyms Cas Number PubMed IDs
Glucose 6-phosphate
  • D(+)-Glucopyranose 6-phosphate
56-73-5

(5) Novoseek inferred chemical compound relationships for SLC37A4 Gene

Compound -log(P) Hits PubMed IDs
glucose 6-phosphate 90.2 75
glycogen 82.9 41
glucose 43.2 16
uric acid 14.8 1
lactate 0 1
genes like me logo Genes that share compounds with SLC37A4: view

Transcripts for SLC37A4 Gene

Unigene Clusters for SLC37A4 Gene

Solute carrier family 37 (glucose-6-phosphate transporter), member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC37A4 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - - - - -
SP5: - -
SP6: -
SP7: - - -
SP8:

Relevant External Links for SLC37A4 Gene

GeneLoc Exon Structure for
SLC37A4
ECgene alternative splicing isoforms for
SLC37A4

Expression for SLC37A4 Gene

mRNA expression in normal human tissues for SLC37A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC37A4 Gene

This gene is overexpressed in Liver (7.6) and Pancreas (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC37A4 Gene

SOURCE GeneReport for Unigene cluster for SLC37A4 Gene Hs.719203

mRNA Expression by UniProt/SwissProt for SLC37A4 Gene

O43826-G6PT1_HUMAN
Tissue specificity: Mostly expressed in liver and kidney
genes like me logo Genes that share expressions with SLC37A4: view

Orthologs for SLC37A4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC37A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC37A4 36
  • 99.63 (n)
  • 99.56 (a)
cow
(Bos Taurus)
Mammalia SLC37A4 36
  • 91.94 (n)
  • 94.68 (a)
SLC37A4 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC37A4 36
  • 92.24 (n)
  • 96.67 (a)
SLC37A4 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc37a4 36
  • 87.33 (n)
  • 93.01 (a)
Slc37a4 16
Slc37a4 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC37A4 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc37a4 36
  • 87.57 (n)
  • 93.01 (a)
chicken
(Gallus gallus)
Aves SLC37A4 36
  • 75.45 (n)
  • 81.59 (a)
SLC37A4 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC37A4 37
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68695 36
tropical clawed frog
(Silurana tropicalis)
Amphibia slc37a4 36
  • 72.61 (n)
  • 80.52 (a)
Str.16084 36
zebrafish
(Danio rerio)
Actinopterygii slc37a4 36
  • 69.62 (n)
  • 71.18 (a)
SLC37A4 (3 of 3) 37
  • 74 (a)
OneToMany
slc37a4a 37
  • 74 (a)
OneToMany
slc37a4b 37
  • 71 (a)
OneToMany
zgc55871 36
worm
(Caenorhabditis elegans)
Secernentea F47B8.10 37
  • 20 (a)
OneToMany
hpo-12 37
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8627 37
  • 39 (a)
OneToOne
Species with no ortholog for SLC37A4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC37A4 Gene

ENSEMBL:
Gene Tree for SLC37A4 (if available)
TreeFam:
Gene Tree for SLC37A4 (if available)

Paralogs for SLC37A4 Gene

No data available for Paralogs for SLC37A4 Gene

Variants for SLC37A4 Gene

Sequence variations from dbSNP and Humsavar for SLC37A4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs8301 -- 119,024,785(-) TTTCT(C/G)TCACC utr-variant-3-prime
rs11006 -- 119,024,492(+) CAGTC(A/G)CCCAC utr-variant-3-prime
rs693619 -- 119,031,235(+) TTTGA(A/G)ACAGT upstream-variant-2KB
rs741811 Benign 119,027,609(-) CAGAC(C/T)GACCA intron-variant
rs1784559 -- 119,030,904(+) GCGCA(A/T)GCGCG utr-variant-5-prime, upstream-variant-2KB

Relevant External Links for SLC37A4 Gene

HapMap Linkage Disequilibrium report
SLC37A4
Human Gene Mutation Database (HGMD)
SLC37A4

No data available for Structural Variations from Database of Genomic Variants (DGV) for SLC37A4 Gene

Disorders for SLC37A4 Gene

(2) OMIM Diseases for SLC37A4 Gene (602671)

UniProtKB/Swiss-Prot

G6PT1_HUMAN
  • 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.
  • 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.
  • 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.

(3) University of Copenhagen DISEASES for SLC37A4 Gene

(8) Novoseek inferred disease relationships for SLC37A4 Gene

Disease -log(P) Hits PubMed IDs
glycogen storage disease 95.7 40
glycogen storage disease type i 89 2
neutropenia 68.3 5
hepatomegaly 62.3 1
hypoglycemia 50.8 2

Relevant External Links for SLC37A4

GeneTests
SLC37A4
GeneReviews
SLC37A4
Genetic Association Database (GAD)
SLC37A4
Human Genome Epidemiology (HuGE) Navigator
SLC37A4
genes like me logo Genes that share disorders with SLC37A4: view

Publications for SLC37A4 Gene

  1. Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID: 10026167) Hiraiwa H. … Chou J.Y. (J. Biol. Chem. 1999) 3 4 23
  2. Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. (PMID: 10482875) Hou D.-C. … Narisawa K. (Am. J. Med. Genet. 1999) 3 4 23
  3. Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. (PMID: 10518030) Galli L. … Sorrentino V. (FEBS Lett. 1999) 3 4 23
  4. Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. (PMID: 10923042) Santer R. … Schneppenheim R. (Hum. Mutat. 2000) 3 4 23
  5. Glycogen storage disease type Ib without neutropenia. (PMID: 10931421) Kure S. … Narisawa K. (J. Pediatr. 2000) 3 4 23

Products for SLC37A4 Gene

Sources for SLC37A4 Gene

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