GENE REFERENCE / HGNC:11036

SLC5A1

solute carrier family 5 member 1

protein-coding gene22q12.3Gene information

What does this gene do?

The SLC5A1 gene provides instructions for producing a protein called sodium/glucose cotransporter protein 1 (SGLT1). This protein is found mainly in the intestinal tract and the kidneys. It spans the membrane of cells and moves (transports) two sugars called glucose and galactose from outside the cell to inside the cell. Sodium and water are transported across the cell membrane along with the sugars in this process. Glucose and galactose are simple sugars; they are present in many foods, or they can be obtained from the breakdown of other sugars (such as lactose, the sugar found in milk) and carbohydrates in the diet during digestion.

In the intestinal tract, the SGLT1 protein helps take in (absorb) glucose and galactose from the diet. The protein is found in intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. The SGLT1 protein is involved in the process of transporting glucose and galactose across the membrane of the intestinal epithelial cells so the sugars can be absorbed and used by the body.

The SGLT1 protein also plays a role in maintaining normal glucose levels in the body. In the kidneys, the SGLT1 protein is located in structures called proximal tubules. These structures help ensure that all nutrients have been extracted from waste fluids before the fluids are released from the body as urine. The SGLT1 protein, and a similar protein called SGLT2, transport glucose from proximal tubules, ensuring that the sugar is absorbed into the bloodstream and not released into the urine. The activity of the SGLT1 protein is the last step of glucose absorption in the kidneys.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2020-04.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 582
Submissions for variants in or overlapping this gene: 828
Submissions explicitly reporting this gene: 796
Alleles reported pathogenic / likely pathogenic: 48
VariationIDs with uncertain significance: 234
VariationIDs with conflicting classifications: 29

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about SLC5A1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 48 alleles in SLC5A1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in SLC5A1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

Buy BioDecode See a sample report →Check file compatibility →