SLC26A1 (solute carrier family 26 member 1)

Gene

• Entrez ID: 10861
• Gene name: Solute carrier family 26 member 1
• Gene symbol: SLC26A1
• Synonyms (NCBI Gene): CAON, CAON1, EDM4, HYSULF, SAT-1, SAT1
• Chromosome: 4
• Chromosome location: 4p16.3
• Summary: This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. T

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2624434	hsa-miR-1184	CLIP-seq
MIRT2624435	hsa-miR-1205	CLIP-seq
MIRT2624436	hsa-miR-3158-5p	CLIP-seq
MIRT2624437	hsa-miR-4279	CLIP-seq
MIRT2624438	hsa-miR-4435	CLIP-seq
MIRT2624439	hsa-miR-4768-5p	CLIP-seq
MIRT2624440	hsa-miR-942	CLIP-seq
MIRT2624434	hsa-miR-1184	CLIP-seq
MIRT2624435	hsa-miR-1205	CLIP-seq
MIRT2624436	hsa-miR-3158-5p	CLIP-seq
MIRT2624437	hsa-miR-4279	CLIP-seq
MIRT2624438	hsa-miR-4435	CLIP-seq
MIRT2624439	hsa-miR-4768-5p	CLIP-seq
MIRT2624440	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005452	Function	Solute:inorganic anion antiporter activity	IDA	12713736, 27125215
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	ISS
GO:0008271	Function	Secondary active sulfate transmembrane transporter activity	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	ISS
GO:0015116	Function	Sulfate transmembrane transporter activity	IBA
GO:0015116	Function	Sulfate transmembrane transporter activity	IEA
GO:0015116	Function	Sulfate transmembrane transporter activity	ISS
GO:0015116	Function	Sulfate transmembrane transporter activity	TAS
GO:0015297	Function	Antiporter activity	IEA
GO:0015383	Function	Sulfate:bicarbonate antiporter activity	IEA
GO:0015383	Function	Sulfate:bicarbonate antiporter activity	ISS
GO:0015701	Process	Bicarbonate transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	11087667
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0019531	Function	Oxalate transmembrane transporter activity	IBA
GO:0019531	Function	Oxalate transmembrane transporter activity	IEA
GO:0019531	Function	Oxalate transmembrane transporter activity	ISS
GO:0019532	Process	Oxalate transport	IEA
GO:0019532	Process	Oxalate transport	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IBA
GO:1902358	Process	Sulfate transmembrane transport	IBA
GO:1902358	Process	Sulfate transmembrane transport	IEA
GO:1902358	Process	Sulfate transmembrane transport	IEA
GO:1902358	Process	Sulfate transmembrane transport	ISS
GO:1902358	Process	Sulfate transmembrane transport	TAS
GO:1902476	Process	Chloride transmembrane transport	IBA

Other IDs

• MIM: 610130
• HGNC: 10993
• e!Ensembl: ENSG00000145217

Protein

• UniProt ID: Q9H2B4
• Protein name: Sulfate anion transporter 1 (SAT-1) (Solute carrier family 26 member 1)
• Protein function: Sodium-independent sulfate anion transporter (PubMed:12713736, PubMed:27125215). Can transport other anions including bicarbonate, thiosulfate and oxalate by mediating sulfate-thiosulfate, sulfate-hydrogencarbonate and sulfate-oxalate anion exch
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00916	Sulfate_transp	69 → 477	Sulfate permease family	Family
  PF01740	STAS	531 → 683	STAS domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed most abundantly in the kidney and liver, with lower levels in the pancreas, testis, brain, small intestine, colon, and lung. {ECO:0000269|PubMed:12713736}.
• Sequence:

  MDESPEPLQQGRGPVPVRRQRPAPRGLREMLKARLWCSCSCSVLCVRALVQDLLPATRWL
  RQYRPREYLAGDVMSGLVIGIILVPQAIAYSLLAGLQPIYSLYTSFFANLIYFLMGTSRH
  VSVGIFSLLCLMVGQVVDRELQLAGFDPSQDGLQPGANSSTLNGSAAMLDCGRDCYAIRV
  ATALTLMTGLYQVLMGVLRLGFVSAYLSQPLLDGFAMGASVTILTSQLKHLLGVRIPRHQ
  GPGMVVLTWLSLLRGAGQANVCDVVTSTVCLAVLLAAKELSDRYRHRLRVPLPTELLVIV
  VATLVSHFGQLHKRFGSSVAGDIPTGFMPPQVPEPRLMQRVALDAVALALVAAAFSISLA
  EMFARSHGYSVRANQELLAVGCCNVLPAFLHCFATSAALAKSLVKTATGCRTQLSSVVSA
  TVVLLVLLALAPLFHDLQRSVLACVIVVSLRGALRKVWDLPRLWRMSPADALVWAGTAAT
  CMLVSTEAGLLAGVILSLLSLAGRTQRPRTALLARIGDTAFYEDATEFEGLVPEPGVRVF
  RFGGPLYYANKDFFLQSLYSLTGLDAGCMAARRKEGGSETGVGEGGPAQGEDLGPVSTRA
  ALVPAAAGFHTVVIDCAPLLFLDAAGVSTLQDLRRDYGALGISLLLACCSPPVRDILSRG
  GFLGEGPGDTAEEEQLFLSVHDAVQTARARHRELEATDAHL

• Sequence length: 701

Pathways

KEGG:

Chemical carcinogenesis - reactive oxygen species

Reactome:

Transport and synthesis of PAPS
Multifunctional anion exchangers

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hypersulfaturia	Pathogenic	rs1192140369	RCV003228882	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis, calcium oxalate	Pathogenic	rs1192140369	RCV002463389	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of lung	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperoxaluria	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MUCOPOLYSACCHARIDOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS V	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis, MPS-I-H/S	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis susceptibility caused by SLC26A1	Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar ClinVar, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEPHROLITHIASIS, CALCIUM OXALATE, 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PFAUNDLER-HURLER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC26A1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	17711504		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10192399		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	18759322		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	18759322		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	32240371	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28695149		★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	17711504		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17711504		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17711504		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	21873659	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	10192399		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	30873581		★☆☆☆☆ Found in Text Mining only
Hurler-Scheie Syndrome	Hurler-Scheie Syndrome	CLINVAR_DG	11735025, 1301941, 22976768, 23786846, 29393969		★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	CTD_human_DG	20160351		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperoxaluria	Hyperoxaluria	BEFREE	21093948		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperoxaluria	Hyperoxaluria	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intestinal Neoplasms	Intestinal Neoplasms	LHGDN	17119850		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	27210743		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17711504		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17119850		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17119850		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis I	Mucopolysaccharidosis	CLINVAR_DG	10215409, 11735025, 12189649, 12203999, 12559846, 1301941, 14559116, 15300847, 18796143, 19396826, 19839758, 21394825, 21480867, 21831683, 22306676, 22976768, 23786846, 24314423, 24368159, 27896125, 7550242, 7951228, 8401515, 8664897, 8680403, 9427149, 9787109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis V	Mucopolysaccharidosis	CLINVAR_DG	11735025, 1301941, 23786846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	19555670		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17711504		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	CTD_human_DG	20160351		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	27210743		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	27210743	Associate	★☆☆☆☆ Found in Text Mining only
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	GENOMICS_ENGLAND_DG	20160351, 27210743		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	UNIPROT_DG	27210743		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oxalosis	Hyperoxaluria	CTD_human_DG	20160351		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36672180	Associate	★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	CLINVAR_DG	10215409, 11735025, 12203999, 1301941, 16438163, 19396826, 21394825, 23430803, 23786846, 25256405, 25557439, 27146977, 27511503, 7550232, 8019563, 8328452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	19162121		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	CTD_human_DG	19002488, 20160351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations