Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC37A4 Gene

Aliases for SLC37A4 Gene

  • Solute Carrier Family 37 Member 4 2 3 4 5
  • Solute Carrier Family 37 (Glucose-6-Phosphate Transporter), Member 4 2 3
  • Glucose-6-Phosphatase, Transport (Glucose-6-Phosphate) Protein 1 2 3
  • Transformation-Related Gene 19 Protein 3 4
  • Glucose-5-Phosphate Transporter 3 4
  • Glucose-6-Phosphate Translocase 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
  • Glucose-6-Phosphate Exchanger SLC37A4 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and glucose-6-phosphate transmembrane transporter activity.

UniProtKB/Swiss-Prot for SLC37A4 Gene

  • Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction. 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

Enhancers for SLC37A4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F119024 1.4 Ensembl ENCODE 10.4 +3.0 2974 7.3 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 KLF13 TRAPPC4 VPS11 SLC37A4 PIR60932
GH11F119066 1.1 ENCODE 12.3 -36.7 -36659 2.0 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 VPS11 HMBS H2AFX C2CD2L DPAGT1 SLC37A4 MIR3656 RPS25 TRAPPC4 HINFP
GH11F119062 1 Ensembl ENCODE 12.4 -32.1 -32095 0.4 BCOR HDAC1 GTF3C2 ZNF316 ADNP NFE2 RCOR1 MAFK NFE2L2 SMARCE1 ENSG00000254909 VPS11 ENSG00000254428 RPL23AP64 UBE4A HMBS H2AFX C2CD2L DPAGT1 SLC37A4
GH11F119065 0.8 ENCODE 12.4 -34.7 -34699 0.2 BCOR CTCF HDAC1 WRNIP1 JUN ZMYM3 ZNF48 RAD21 GATA3 GATA2 H2AFX C2CD2L DPAGT1 SLC37A4 MIR3656 RPS25 TRAPPC4 HINFP NLRX1 FOXR1
GH11F119076 0.6 ENCODE 12 -47.0 -47024 2.5 ZNF316 ZNF146 KDM1A EMSY MAFK VPS11 HMBS C2CD2L DPAGT1 HYOU1 ENSG00000255114 SLC37A4 RPS25 TRAPPC4 MIR3656
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC37A4 on UCSC Golden Path with GeneCards custom track

Promoters for SLC37A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000112327 506 2001 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 KLF13

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 exchanger SLC37A4
    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

Post-translational modifications for SLC37A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC37A4 Gene

Antibody Products

  • Abcam antibodies for SLC37A4
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC37A4

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 EnzymeRegulation:
Inhibited by vanadate and chlorogenic acid.
UniProtKB/Swiss-Prot Function:
Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction. 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 IEA,NAS 9428641
GO:0015152 glucose-6-phosphate transmembrane transporter activity IEA,IMP 12560945
GO:0061513 glucose 6-phosphate:inorganic phosphate antiporter activity IDA 21949678
genes like me logo Genes that share ontologies with SLC37A4: view
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

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005783 endoplasmic reticulum NAS 212064
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA,NAS 9428641
GO:0030176 integral component of endoplasmic reticulum membrane IDA 21949678
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 IID

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:0005977 glycogen metabolic process IEA --
GO:0006006 glucose metabolic process NAS 9428641
GO:0006089 lactate 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

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

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

(2) 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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for SLC37A4 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC37A4 Gene:

SLC37A4

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

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 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia SLC37A4 34 35
  • 92.24 (n)
cow
(Bos Taurus)
Mammalia SLC37A4 34 35
  • 91.94 (n)
rat
(Rattus norvegicus)
Mammalia Slc37a4 34
  • 87.57 (n)
mouse
(Mus musculus)
Mammalia Slc37a4 34 16 35
  • 87.33 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC37A4 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC37A4 34 35
  • 75.45 (n)
lizard
(Anolis carolinensis)
Reptilia SLC37A4 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc37a4 34
  • 72.61 (n)
Str.16084 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68695 34
zebrafish
(Danio rerio)
Actinopterygii SLC37A4 (3 of 3) 35
  • 74 (a)
OneToMany
slc37a4a 35
  • 74 (a)
OneToMany
slc37a4b 35
  • 71 (a)
OneToMany
slc37a4 34
  • 69.62 (n)
zgc55871 34
worm
(Caenorhabditis elegans)
Secernentea F47B8.10 35
  • 20 (a)
OneToMany
hpo-12 35
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8627 35
  • 39 (a)
OneToOne
Species where no ortholog for SLC37A4 was found in the sources mined by GeneCards:
  • 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
rs121908978 Glycogen storage disease 1B (GSD1B) [MIM:232220], Pathogenic 119,029,287(-) CAATC(A/G)CAAGA intron-variant, reference, missense
rs121908980 Glycogen storage disease 1B (GSD1B) [MIM:232220], Pathogenic 119,025,298(-) ATTTG(A/G)TTTCT reference, missense
rs193302877 Glycogen storage disease 1B (GSD1B) [MIM:232220], untested 119,028,426(-) TGCAG(A/G)GTTCA reference, missense, utr-variant-5-prime
rs193302878 Glycogen storage disease 1B (GSD1B) [MIM:232220], untested 119,026,985(-) CTGAC(C/T)GGGGC reference, missense
rs193302879 Glycogen storage disease 1B (GSD1B) [MIM:232220], untested 119,027,811(-) CCTGG(C/T)TGGAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SLC37A4 Gene

Variant ID Type Subtype PubMed ID
nsv952744 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
SLC37A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC37A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC37A4 Gene

Disorders for SLC37A4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glycogen storage disease ib
  • glycogen storage disease type 1b
glycogen storage disease ic
  • glycogen storage disease type ic
glycogen storage disease ia
  • glycogen storage disease i
glycogen storage disease
  • glycogenoses
neutropenia
  • leukopenia
- 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.20}. 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. 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 22 46 64
  2. Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. (PMID: 15906092) Melis D. … Benedetti A. (Eur. J. Pediatr. 2005) 3 22 46 64
  3. Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. (PMID: 15059622) Kojima K. … Matsubara Y. (Mol. Genet. Metab. 2004) 3 4 22 64
  4. Type I glycogen storage diseases: disorders of the glucose-6- phosphatase complex. (PMID: 11949931) Chou J.Y. … Chen Y.-T. (Curr. Mol. Med. 2002) 3 4 22 64
  5. Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. (PMID: 12409273) Yuen Y.-P. … Lam C.-W. (Mol. Genet. Metab. 2002) 3 4 22 64

Products for SLC37A4 Gene

Sources for SLC37A4 Gene

Content
Loading form....