SLC26A1 (solute carrier family 26 member 1)

2007-06-01  

Identity

HGNC
LOCATION
4p16.3
LOCUSID
ALIAS
CAON,EDM4,SAT-1,SAT1
FUSION GENES

Other Information

Locus ID:

NCBI: 10861
MIM: 610130
HGNC: 10993
Ensembl: ENSG00000145217

Variants:

dbSNP: 10861
ClinVar: 10861
TCGA: ENSG00000145217
COSMIC: SLC26A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145217ENST00000361661Q9H2B4
ENSG00000145217ENST00000398516Q9H2B4
ENSG00000145217ENST00000398520Q9H2B4
ENSG00000145217ENST00000622731Q9H2B4

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Multifunctional anion exchangersREACTOMER-HSA-427601
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Transport and synthesis of PAPSREACTOMER-HSA-174362
Biological oxidationsREACTOMER-HSA-211859
Phase II conjugationREACTOMER-HSA-156580
Cytosolic sulfonation of small moleculesREACTOMER-HSA-156584

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
127137362003Characterization of the human sulfate anion transporter (hsat-1) protein and gene (SAT1; SLC26A1).14
178814262008Familial pure proximal renal tubular acidosis--a clinical and genetic study.12
272107432016Mutations in SLC26A1 Cause Nephrolithiasis.12
242502682013Human SLC26A1 gene variants: a pilot study.9
210939482011Glyoxylate is a substrate of the sulfate-oxalate exchanger, sat-1, and increases its expression in HepG2 cells.6
238158842013Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit.4
274129882016From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.3
271252152016Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.2
171198502007Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by real-time PCR.1

Citation

Dessen P

SLC26A1 (solute carrier family 26 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/47563/slc26a1