UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SAT1
HGNC Symbol:SLC26A1
HGNC Description:solute carrier family 26 (anion exchanger), member 1
HGNC ID:10993
Chromosome:Chr.4(-): 972861-987228 GRCh37
OMIM Phenotype:None
Nucleotide RefSeq:NM_022042
Protein RefSeq:NP_071325
Evidence:Substrate In Vitro Evidence: When expressed in X. laevis oocytes, hsat-1 facilitated the transport of sulfate, chloride, and oxalate; sulfate transport was inhibited by DIDS, phenol red, thiosulfate, molybdate, tungstate, and selenate (Regeer RR, Lee A, Markovich D. Characterization of the human sulfate anion transporter (hsat-1) protein and gene (SAT1; SLC26A1). DNA Cell Biol 22(2): 107-17. 2003). Tissue Distribution Evidence: By PCR from a human multiple-tissue cDNA panel, SAT1 was found to be expressed most highly in kidney and liver, and to a lesser extent in pancreas, testis, prostate, spleen, colon, brain, thymus, and lung (Regeer RR, Lee A, Markovich D. Characterization of the human sulfate anion transporter (hsat-1) protein and gene (SAT1; SLC26A1). DNA Cell Biol 22(2): 107-17. 2003).
Tissues:Kidney, liver (high); pancreas, testis, prostate, spleen, colon, brain, thymus, lung (low)
PharmGKB ID:PA400
HPRD ID:15361
Substrates:Sulfate, chloride, oxalate
Trivial Names:EDM4, SAT1, SAT-1
Transcripts:NM_022042.3 [Chr.4(-): 981445-987228 GRCh37]
NM_134425.2 [Chr.4(-): 972861-987228 GRCh37]
NM_213613.3 [Chr.4(-): 981445-987228 GRCh37]
ENST00000361661 [Chr.4(-): 981445-987224 GRCh37]
ENST00000398516 [Chr.4(-): 981785-987228 GRCh37]
ENST00000398520 [Chr.4(-): 972861-987164 GRCh37]
ENST00000513138 [Chr.4(-): 984409-984983 GRCh37]
Annotation History:View Events (17)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Expression values:
No expression data exists for SLC26A1.

Variant Data

View all PMT variants for SLC26A1 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction: TOPO2 image is not available.