SLC26A1: Solute Carrier Family 26 Member 1

Oxalate and sulfate transporter involved in kidney stone disease and metabolic regulation

Gene Information Card

Symbol SLC26A1
Full Name Solute Carrier Family 26 Member 1
Gene Type Protein-coding
Chromosomal Location 4p16.3
NCBI Gene ID 10861 ncbi.nlm.nih.gov/gene/10861
Ensembl ID ENSG00000138684
UniProt ID Q9H2B4
OMIM ID 606718
HGNC ID 10988
Aliases SAT1, SAT-1, MGC126562

Description

SLC26A1 (Solute Carrier Family 26 Member 1) encodes a transmembrane protein that functions as an oxalate and sulfate transporter. It is primarily expressed in the kidney and liver, where it mediates the exchange of oxalate and sulfate across the plasma membrane. This gene plays a critical role in oxalate homeostasis and has been implicated in the pathogenesis of calcium oxalate kidney stones. Mutations in SLC26A1 can lead to altered oxalate transport and increased risk of nephrolithiasis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Nephrolithiasis (calcium oxalate kidney stones) Loss-of-function mutations reduce oxalate transport, leading to hyperoxaluria and stone formation ClinVar, OMIM
Primary hyperoxaluria (mild form) Defective oxalate excretion increases urinary oxalate levels OMIM #606718

Expression Profile

Tissue Expression
Tissue nTPM level
Kidney 12.5 Medium
Liver 8.3 Medium
Small intestine 5.1 Low
Colon 4.2 Low
Pancreas 3.0 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 15.2 High expression in transfected cells
HepG2 7.8 Endogenous expression
Caco-2 4.5 Intestinal epithelial model
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1645C>T (p.Arg549Trp) Missense Rare Reduced oxalate transport activity
c.1123G>A (p.Gly375Arg) Missense Rare Impaired sulfate transport
c.1966delC (p.Leu656Trpfs*12) Frameshift Very rare Loss of function
Mutation functional classification

Loss of Function (LOF)

Missense and frameshift mutations that reduce or abolish oxalate/sulfate transport activity, associated with hyperoxaluria and kidney stone risk.

Gain of Function (GOF)

Not reported for SLC26A1.

Dominant Negative (DN)

Not reported for SLC26A1.

Pathways

Oxalate transport and metabolism
Sulfate transport
SLC-mediated transmembrane transport

Protein Summary

The SLC26A1 protein (SAT1) is a 722-amino acid multi-pass transmembrane protein belonging to the SLC26 family of anion exchangers. It mediates the electroneutral exchange of oxalate and sulfate across the plasma membrane, with a preference for oxalate. The protein is highly expressed in the basolateral membrane of renal proximal tubule cells and hepatocytes, where it facilitates the excretion of oxalate into the urine and bile. Structural studies indicate a conserved sulfate transporter domain. Dysfunction of SLC26A1 leads to accumulation of oxalate, contributing to calcium oxalate crystal formation and kidney stone disease.

Related Products

Product name Cat.No. Species Gene ID
SLC26A1 Knockout HEK293 Cell Line EDJ-KQ7191 Human 10861 Details Get a Quote
SLC26A11 Knockout HEK293 Cell Line EDJ-KQ15321 Human 284129 Details Get a Quote
SLC26A1 Knockout HCT 116 Cell Line EDJ-KQ32133 Human 10861 Details Get a Quote
SLC26A11 Knockout A-549 Cell Line EDJ-KQ46029 Human 284129 Details Get a Quote
SLC26A11 Knockout HCT 116 Cell Line EDJ-KQ46030 Human 284129 Details Get a Quote
SLC26A11 Knockout HeLa Cell Line EDJ-KQ44812 Human 284129 Details Get a Quote
SLC26A1 Knockout HeLa Cell Line EDJ-KQ55502 Human 10861 Details Get a Quote
SLC26A1 Knockout A-549 Cell Line EDJ-KQ63991 Human 10861 Details Get a Quote
Displaying Records 1 To 8 Of 8 Records
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