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Aliases for SLC37A4 Gene

Aliases for SLC37A4 Gene

  • Solute Carrier Family 37 Member 4 2 3 4
  • Solute Carrier Family 37 (Glucose-6-Phosphate Transporter), Member 4 2 3 5
  • 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
  • G6PT1 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
  • PRO0685 3
  • GSD1b 3
  • GSD1c 3
  • GSD1d 3
  • TRG19 3
  • G6PT2 3
  • G6PT3 3
  • G6PT 4

External Ids for SLC37A4 Gene

Previous HGNC Symbols for SLC37A4 Gene

  • G6PT1
  • G6PT2
  • G6PT3

Previous GeneCards Identifiers for SLC37A4 Gene

  • GC11M118928
  • GC11M118432
  • GC11M118400
  • GC11M114834
  • GC11M118894

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 Member 4) is a Protein Coding gene. Diseases associated with SLC37A4 include glycogen storage disease ib and glycogen storage disease ic. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. 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

Regulatory Elements for SLC37A4 Gene

Promoters for SLC37A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC37A4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC37A4 Gene

Chromosome:
11
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

Genes around SLC37A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC37A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC37A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

No data available for DME Specific Peptides for SLC37A4 Gene

Domains & Families for SLC37A4 Gene

Gene Families for SLC37A4 Gene

Protein Domains for SLC37A4 Gene

Suggested Antigen Peptide Sequences for SLC37A4 Gene

Graphical View of Domain Structure for InterPro Entry

O43826

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for SLC37A4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC37A4 Gene

MGI Knock Outs for SLC37A4:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC37A4

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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.

Gene Ontology (GO) - Cellular Components for SLC37A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0030176 integral component of endoplasmic reticulum membrane IDA 10318794
genes like me logo Genes that share ontologies with SLC37A4: view

No data available for Subcellular locations from COMPARTMENTS for SLC37A4 Gene

Pathways & Interactions for SLC37A4 Gene

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

Pathways by source for SLC37A4 Gene

1 GeneGo (Thomson Reuters) 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:0001816 cytokine production IEA --
GO:0002318 myeloid progenitor cell differentiation IEA --
GO:0006006 glucose metabolic process NAS 9428641
GO:0006089 lactate metabolic process IEA --
GO:0006641 triglyceride metabolic process IEA --
genes like me logo Genes that share ontologies with SLC37A4: view

No data available for SIGNOR curated interactions for SLC37A4 Gene

Drugs & Compounds for SLC37A4 Gene

(2) Drugs for SLC37A4 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glucose 6-phosphate Experimental Pharma 0

(3) Additional Compounds for SLC37A4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 (x7.6) and Pancreas (x4.3).

Protein differential expression in normal tissues from HIPED for SLC37A4 Gene

This gene is overexpressed in Nasal epithelium (42.3) and Gallbladder (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SLC37A4: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for SLC37A4 Gene

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 35
  • 99.63 (n)
  • 99.56 (a)
cow
(Bos Taurus)
Mammalia SLC37A4 36
  • 95 (a)
OneToOne
SLC37A4 35
  • 91.94 (n)
  • 94.68 (a)
dog
(Canis familiaris)
Mammalia SLC37A4 35
  • 92.24 (n)
  • 96.67 (a)
SLC37A4 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc37a4 36
  • 93 (a)
OneToOne
Slc37a4 16
Slc37a4 35
  • 87.33 (n)
  • 93.01 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC37A4 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc37a4 35
  • 87.57 (n)
  • 93.01 (a)
chicken
(Gallus gallus)
Aves SLC37A4 35
  • 75.45 (n)
  • 81.59 (a)
SLC37A4 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC37A4 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68695 35
tropical clawed frog
(Silurana tropicalis)
Amphibia slc37a4 35
  • 72.61 (n)
  • 80.52 (a)
Str.16084 35
zebrafish
(Danio rerio)
Actinopterygii SLC37A4 (3 of 3) 36
  • 74 (a)
OneToMany
slc37a4a 36
  • 74 (a)
OneToMany
slc37a4b 36
  • 71 (a)
OneToMany
slc37a4 35
  • 69.62 (n)
  • 71.18 (a)
zgc55871 35
worm
(Caenorhabditis elegans)
Secernentea F47B8.10 36
  • 20 (a)
OneToMany
hpo-12 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8627 36
  • 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
rs193302892 Glycogen storage disease 1B (GSD1B) 119,027,808(-) GGCTG(A/G)AGGGC reference, missense
rs80356490 Glycogen storage disease 1B (GSD1B) 119,025,299(-) TATTT(G/T)GTTTC reference, missense
rs80356489 Glycogen storage disease 1B (GSD1B) 119,028,223(-) TGGGC(C/T)GGCCC reference, missense
rs121908978 Glycogen storage disease 1B (GSD1B) 119,029,287(-) CAATC(A/G)CAAGA intron-variant, reference, missense
rs193302881 Glycogen storage disease 1B (GSD1B) 119,029,311(-) TGGGG(A/G)CTACA intron-variant, reference, missense

Variation tolerance for SLC37A4 Gene

Gene Damage Index Score: 2.41; 42.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC37A4 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SLC37A4 Gene

Disorders for SLC37A4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC37A4 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, and Novoseek

Disorder Aliases PubMed IDs
glycogen storage disease ib
  • glucose-6-phosphate translocase deficiency
glycogen storage disease ic
  • glycogen storage disease 1c
neutropenia, severe congenital, 5, autosomal recessive
  • severe congenital neutropenia, autosomal recessive, 5
glycogen storage disease ia
  • glycogen storage disease i
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:9758626}. 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. {ECO:0000269 PubMed:9758626}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC37A4

Genetic Association Database (GAD)
SLC37A4
Human Genome Epidemiology (HuGE) Navigator
SLC37A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC37A4
genes like me logo Genes that share disorders with SLC37A4: view

No data available for Genatlas for SLC37A4 Gene

Publications for SLC37A4 Gene

  1. Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. (PMID: 9428641) Gerin I. … van Schaftingen E. (FEBS Lett. 1997) 2 3 4 67
  2. Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib. (PMID: 19008136) Pan C.J. … Chou J.Y. (Mol. Genet. Metab. 2009) 3 23
  3. Silencing of the MT1-MMP/ G6PT axis suppresses calcium mobilization by sphingosine-1-phosphate in glioblastoma cells. (PMID: 18267120) Fortier S. … Annabi B. (FEBS Lett. 2008) 3 23
  4. The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic. (PMID: 18337460) Chen S.Y. … Chou J.Y. (FASEB J. 2008) 3 23
  5. Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome. (PMID: 17354259) Forsyth L. … Burchell A. (J. Pathol. 2007) 3 23

Products for SLC37A4 Gene

Sources for SLC37A4 Gene

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