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

Summary

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

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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).
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.
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.
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.
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.
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.
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.
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	Compare labs
Glucose-6-phosphate transport defect MedGen: C0268146 OMIM: 232220 GeneReviews: Glycogen Storage Disease Type I	Compare labs
Phosphate transport defect MedGen: C0342749 OMIM: 232240 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH35862 (e-PCR)
- UniSTS:22854

D1S3690 (e-PCR)
- UniSTS:474268

A007J44 (e-PCR)
- UniSTS:76495

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 more info	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

NG_013331.1 RefSeqGene

Range

5001..11555

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_187

mRNA and Protein(s)

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
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
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 ...
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
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