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    SLC37A4 solute carrier family 37 member 4 [ Homo sapiens (human) ]

    Gene ID: 2542, updated on 12-Nov-2024

    Summary

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    Official Symbol
    SLC37A4provided by HGNC
    Official Full Name
    solute carrier family 37 member 4provided by HGNC
    Primary source
    HGNC:HGNC:4061
    See related
    Ensembl:ENSG00000137700 MIM:602671; AllianceGenome:HGNC:4061
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G6PT; SPX4; CDG2W; G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; TRG19; TRG-19; PRO0685
    Summary
    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]
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Broad expression in kidney (RPKM 40.6), duodenum (RPKM 31.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC37A4 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119024112..119030877, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119044474..119051238, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118894822..118901587, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene centrosomal AT-AC splicing factor Neighboring gene ribosomal protein L23a pseudogene 64 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5616 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118889349-118890047 Neighboring gene ribosomal protein S25 Neighboring gene trafficking protein particle complex subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3962 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:118906707-118906861 Neighboring gene HYOU1 antisense RNA 1 Neighboring gene hypoxia up-regulated 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5617 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118927013-118927514 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118927515-118928014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5618 Neighboring gene uncharacterized LOC124902769

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Chou JY, et al. Curr Mol Med, 2002 Mar. PMID 11949931
    2. A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b. Lam CW, et al. Hum Mutat, 2000 Jul. PMID 10874322
    3. 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. Santer R, et al. Hum Mutat, 2000 Aug. PMID 10923042
    4. Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib. Carlin MP, et al. Genet Mol Biol, 2013 Dec. PMID 24385852, Free PMC Article
    5. [Gene mutations and clinical manifestations in children with glycogen storage disease type Ib]. Liang CL, et al. Zhongguo Dang Dai Er Ke Za Zhi, 2013 Aug. PMID 23965881

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression.
      Title: SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression.
    2. Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.
      Title: Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.
    3. Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).
      Title: Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).
    4. A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.
      Title: A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.
    5. A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
      Title: A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
    6. In SLC37A4 gene, 6 variants were detected. Three previously reported variants c.81T>A (p.Asn27Lys), c.162C>A (p.Ser54Arg) and c.1042_1043delCT (p.Leu348Valfs*53) accounted for 87% of all analyzed alleles. Computational, transcription studies and/or clinical presentation in patients confirmed pathogenic effect of 3 novel variants.
      Title: Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
    7. Study established a cellular model system characterized by a deficiency of SLC37A4, which presents pathological manifestations of GSD Ib in the kidney. Expression analysis in a novel model system supports the hypothesis that renal dysfunction in the GSD Ib is partly due to the ER stress and increased apoptosis.
      Title: CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.
    8. Study demonstrates that G6PT is essential for proliferation and differentiation of adipose-derived mesenchymal stem cells , providing important insights into the GSD-Ib phenotypes.
      Title: Aberrant proliferation and differentiation of glycogen storage disease type Ib mesenchymal stem cells.
    9. We report the MFRP-related ocular phenotype in three siblings with glycogen storage disease type 1b. Molecular genetic studies identified novel mutations in the MFRP and SLC37A4 genes.
      Title: Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.
    10. The most common mutation of SLC37A4 genes identified in Korean patients was c.443C>T (p.Ala148Val), accounting for 55.6% (5/9 patients) of all GSD Ib patients and 38.9% of the tested alleles
      Title: Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Congenital disorder of glycosylation, type IIw
    MedGen: C5561986 OMIM: 619525 GeneReviews: Not available
    		not available
    Glucose-6-phosphate transport defect
    MedGen: C0268146 OMIM: 232220 GeneReviews: Glycogen Storage Disease Type I
    		not available
    Phosphate transport defect
    MedGen: C0342749 OMIM: 232240 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC15729

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glucose 6-phosphate:phosphate antiporter activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables glucose 6-phosphate:phosphate antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucose 6-phosphate:phosphate antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucose 6-phosphate:phosphate antiporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables glucose-6-phosphate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucose-6-phosphate transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in gluconeogenesis TAS
    Traceable Author Statement
    more info
    		  
    involved_in glucose homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glucose metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in glucose-6-phosphate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glucose-6-phosphate transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glucose-6-phosphate transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glucose-6-phosphate transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in phosphate ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphate ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    glucose-6-phosphate exchanger SLC37A4
    Names
    glucose-5-phosphate transporter
    glucose-6-phosphatase transporter
    glucose-6-phosphatase, transport (glucose) protein 3
    glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1
    glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2
    glucose-6-phosphate translocase
    microsomal glucose-6-phosphate transporter
    solute carrier family 37 (glucose-6-phosphate transporter), member 4
    sugar-phosphate exchange protein 4
    transformation-related gene 19 protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013331.1 RefSeqGene

      Range
      5001..11555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_187

    mRNA and Protein(s)

    1. NM_001164277.2 → NP_001157749.1  glucose-6-phosphate exchanger SLC37A4 isoform 1

      See identical proteins and their annotated locations for NP_001157749.1

      Status: REVIEWED

      Source sequence(s)
      AP003392, FP885832
      UniProtKB/Swiss-Prot
      O43826, O96016, Q5J7V4, Q9UI19, Q9UNS4
      UniProtKB/TrEMBL
      A8K0S7, Q6IBR9, U3KPU7, U3KQV0
      Related
      ENST00000525102.5
      Conserved Domains (1) summary
      TIGR00881
      Location:18 → 397
      2A0104; phosphoglycerate transporter family protein

    2. NM_001164278.2 → NP_001157750.1  glucose-6-phosphate exchanger SLC37A4 isoform 2

      See identical proteins and their annotated locations for NP_001157750.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a longer protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AP003392, FP885832
      UniProtKB/TrEMBL
      U3KQS2
      Related
      ENSP00000476176.2, ENST00000357590.9
      Conserved Domains (2) summary
      cd06174
      Location:14 → 437
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      TIGR00881
      Location:18 → 419
      2A0104; phosphoglycerate transporter family protein

    3. NM_001164279.2 → NP_001157751.1  glucose-6-phosphate exchanger SLC37A4 isoform 3

      See identical proteins and their annotated locations for NP_001157751.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream translational start codon, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AP003392, FP885832
      UniProtKB/TrEMBL
      B4DUH2, U3KQL4
      Related
      ENSP00000475991.2, ENST00000538950.5
      Conserved Domains (1) summary
      cd06174
      Location:4 → 342
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

    4. NM_001164280.2 → NP_001157752.1  glucose-6-phosphate exchanger SLC37A4 isoform 1

      See identical proteins and their annotated locations for NP_001157752.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 4, and 5 encode the same protein (isoform 1).
      Source sequence(s)
      AP003392, FP885832
      UniProtKB/Swiss-Prot
      O43826, O96016, Q5J7V4, Q9UI19, Q9UNS4
      UniProtKB/TrEMBL
      A8K0S7, Q6IBR9, U3KPU7, U3KQV0
      Conserved Domains (1) summary
      TIGR00881
      Location:18 → 397
      2A0104; phosphoglycerate transporter family protein

    5. NM_001467.6 → NP_001458.1  glucose-6-phosphate exchanger SLC37A4 isoform 1

      See identical proteins and their annotated locations for NP_001458.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 4, and 5 encode the same protein (isoform 1).
      Source sequence(s)
      AP003392, FP885832
      UniProtKB/Swiss-Prot
      O43826, O96016, Q5J7V4, Q9UI19, Q9UNS4
      UniProtKB/TrEMBL
      A8K0S7, Q6IBR9, U3KPU7, U3KQV0
      Related
      ENST00000527992.5
      Conserved Domains (1) summary
      TIGR00881
      Location:18 → 397
      2A0104; phosphoglycerate transporter family protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      119024112..119030877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646203.1 Reference GRCh38.p14 PATCHES

      Range
      45712..52476 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      119044474..119051238 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43826.1 GenPept UniProtKB/Swiss-Prot:O43826

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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