Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger.
Characterization of the human sulfate anion transporter (hsat-1) protein and gene (SAT1; SLC26A1).
-
Human SLC26A1 cDNA induces sulfate, chloride and oxalate transport in Xenopus oocytes; expressed mainly in kidney and liver.
"induces sulfate, chloride, and oxalate transport in"
Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.
-
Human SLC26A1 is an electroneutral Na-independent exchanger of sulfate, oxalate, bicarbonate and thiosulfate, allosterically activated by extracellular chloride; chloride transport has divergent properties.
"electroneutral sodium-independent anion exchanger transporting sulfate, oxalate,"
SLC26A1,2 cotransport SO4(2-), anion from extracellular region to cytosol
SLC26A1 is a major determinant of sulfate homeostasis in humans.
-
A homozygous human loss-of-function allele causes renal sulfate wasting and hyposulfatemia with little effect on urinary oxalate; rare damaging variants lower plasma sulfate in a population cohort.
"we identify SLC26A1 as a sulfate transporter in humans and experimentally validate several loss-of-function alleles"
Absence of the sulfate transporter SAT-1 has no impact on oxalate handling by mouse intestine and does not cause hyperoxaluria or hyperoxalemia.
-
A second Slc26a1-knockout mouse line was profoundly hyposulfatemic but not hyperoxaluric; intestinal oxalate and sulfate fluxes were SAT-1-independent.
"Additionally, SAT-1-KO mice were neither hyperoxaluric nor hyperoxalemic."
Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice.
-
The first Sat1-null mouse showed hyperoxaluria, hyperoxalemia, calcium oxalate stones, hypersulfaturia and hyposulfatemia.
"These mice exhibited hyperoxaluria with hyperoxalemia, nephrocalcinosis, and calcium oxalate stones in their renal tubules and bladder."
Mutations in SLC26A1 Cause Nephrolithiasis.
-
Biallelic SLC26A1 variants in two calcium oxalate stone formers reduce transporter activity.
"We detected biallelic mutations in SLC26A1 (solute carrier family 26 member 1) in two unrelated individuals with calcium oxalate kidney stones."
Human SLC26A1 gene variants: a pilot study.