SLC37A1: Solute Carrier Family 37 Member 1

A glucose-6-phosphate transporter involved in metabolic and cancer biology

Gene Information Card

Symbol SLC37A1
Full Name Solute Carrier Family 37 Member 1
Gene Type Protein coding
Chromosomal Location 21q22.3
NCBI Gene ID 54020 ncbi.nlm.nih.gov/gene/54020
Ensembl ID ENSG00000160209
UniProt ID P57057
OMIM ID 608744
HGNC ID 10953
Aliases G6PT3, G3PP, SPX1

Description

SLC37A1 encodes a member of the solute carrier family 37, functioning as a glucose-6-phosphate (G6P) transporter. It is involved in gluconeogenesis and the endoplasmic reticulum stress response. The protein is localized to the endoplasmic reticulum membrane and mediates the transport of G6P from the cytoplasm into the ER lumen. SLC37A1 is also implicated in cellular phosphate homeostasis and has been associated with metabolic disorders and cancer progression.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Glycogen storage disease type I (non-classical) Impaired G6P transport leads to disrupted glycogenolysis and gluconeogenesis OMIM #608744
Hepatocellular carcinoma Overexpression of SLC37A1 promotes tumor growth via altered glucose metabolism COSMIC, literature
Type 2 diabetes Variants in SLC37A1 associated with insulin resistance and glucose intolerance GWAS, ClinVar

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Kidney 8.3 Medium
Small intestine 6.1 Low
Pancreas 4.7 Low
Adipose tissue 3.2 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 15.0 Liver cancer cell line, high expression
HEK293 7.8 Embryonic kidney, moderate expression
Caco-2 5.4 Colorectal adenocarcinoma, low expression
MCF7 2.1 Breast cancer, very low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1040C>T (p.Thr347Met) Missense <0.01% Reduced G6P transport activity
c.1256G>A (p.Arg419His) Missense <0.01% Loss of function, associated with metabolic disorder
c.1472T>C (p.Ile491Thr) Missense <0.01% Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

Missense variants such as p.Arg419His impair G6P transport, leading to metabolic dysregulation.

Gain of Function (GOF)

Not reported in curated databases.

Dominant Negative (DN)

Not reported in curated databases.

Pathways

Glucoseogenesis (Reactome: R-HSA-70263)
Glucose-6-phosphate transport (Reactome: R-HSA-189200)

Protein Summary

SLC37A1 is a 429-amino acid multi-pass transmembrane protein localized to the endoplasmic reticulum. It functions as a G6P/phosphate antiporter, critical for gluconeogenesis and glycogenolysis. The protein contains a sugar-phosphate transporter domain and is expressed predominantly in liver and kidney. Structural studies suggest it forms a homodimer. Post-translational modifications include N-glycosylation at Asn-48.

Related Products

Product name Cat.No. Species Gene ID
SLC37A1 Knockout HEK293 Cell Line EDJ-KQ11377 Human 54020 Details Get a Quote
SLC37A1 Knockout A-549 Cell Line EDJ-KQ39575 Human 54020 Details Get a Quote
SLC37A1 Knockout HCT 116 Cell Line EDJ-KQ39576 Human 54020 Details Get a Quote
SLC37A1 Knockout HeLa Cell Line EDJ-KQ39577 Human 54020 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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