SLC26A1 (solute carrier family 26 member 1)

2007-06-01  

Identity

HGNC
SLC26A1
LOCATION
4p16.3
LOCUSID
10861
ALIAS
CAON,EDM4,SAT-1,SAT1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
367193782023SLC26A1 is a major determinant of sulfate homeostasis in humans.2
367193782023SLC26A1 is a major determinant of sulfate homeostasis in humans.2
271252152016Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.9
272107432016Mutations in SLC26A1 Cause Nephrolithiasis.21
274129882016From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.7
271252152016Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.9
272107432016Mutations in SLC26A1 Cause Nephrolithiasis.21
274129882016From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.7
238158842013Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit.10
242502682013Human SLC26A1 gene variants: a pilot study.11
238158842013Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit.10
242502682013Human SLC26A1 gene variants: a pilot study.11
210939482011Glyoxylate is a substrate of the sulfate-oxalate exchanger, sat-1, and increases its expression in HepG2 cells.10
210939482011Glyoxylate is a substrate of the sulfate-oxalate exchanger, sat-1, and increases its expression in HepG2 cells.10
178814262008Familial pure proximal renal tubular acidosis--a clinical and genetic study.13

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-(solute-carrier-family-26-member-1)