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Aliases for SLC26A1 Gene

Aliases for SLC26A1 Gene

  • Solute Carrier Family 26 Member 1 2 3 4 5
  • Solute Carrier Family 26 (Sulfate Transporter), Member 1 2 3
  • Solute Carrier Family 26 (Anion Exchanger), Member 1 2 3
  • SAT-1 3 4
  • SAT1 3 4
  • Sulfate/Anion Transporter SAT-1 Protein 3
  • Sulfate Anion Tranporter AT1 3
  • Sulfate Anion Transporter 1 3
  • CAON 3
  • EDM4 3

External Ids for SLC26A1 Gene

Previous GeneCards Identifiers for SLC26A1 Gene

  • GC04M001015

Summaries for SLC26A1 Gene

Entrez Gene Summary for SLC26A1 Gene

  • 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. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC26A1 Gene

SLC26A1 (Solute Carrier Family 26 Member 1) is a Protein Coding gene. Diseases associated with SLC26A1 include Nephrolithiasis and Proximal Renal Tubular Acidosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include secondary active sulfate transmembrane transporter activity and anion:anion antiporter activity. An important paralog of this gene is SLC26A2.

UniProtKB/Swiss-Prot for SLC26A1 Gene

  • Mediates sulfate transport with high affinity (PubMed:12713736). Mediates oxalate transport (PubMed:12713736). Mediates bicarbonate transport (By similarity). Does not accept succinate as cosubstrate (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC26A1 Gene

Genomics for SLC26A1 Gene

Regulatory Elements for SLC26A1 Gene

Enhancers for SLC26A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G000991 1.6 Ensembl ENCODE dbSUPER 53.7 +1.2 1155 2.7 HDGF PKNOX1 FOXA2 MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 SLC26A1 DGKQ TMEM175 ENSG00000251639 RNF212 ENSG00000250321 GC04P000992
GH04G000973 1 ENCODE dbSUPER 30.9 +20.6 20570 0.3 HDAC1 CTCF LEF1 ESRRA USF1 SUZ12 BACH1 RBBP5 POLR2A EZH2 DGKQ SLC26A1 GC04P000975 PIR57975
GH04G000961 0.6 dbSUPER 46.9 +31.3 31322 2.3 HIC1 CTCF KLF1 ZFHX2 MAZ POLR2A AGO1 RBFOX2 SLC26A1 DGKQ PIR57975 GC04P000975
GH04G000962 0.5 dbSUPER 45.3 +32.8 32753 0.5 KLF1 ZFHX2 POLR2A AGO1 RBFOX2 SLC26A1 PIR57975 GC04M000939 GC04M000940
GH04G000986 1.1 ENCODE 20.2 +7.1 7122 2.1 HDGF HNRNPUL1 CREB3L1 AGO1 SIN3A DMAP1 ZNF143 ZNF207 KLF13 ZNF263 DGKQ SLC26A1 IDUA GC04P000992
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC26A1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SLC26A1 gene promoter:

Genomic Location for SLC26A1 Gene

Chromosome:
4
Start:
979,073 bp from pter
End:
994,217 bp from pter
Size:
15,145 bases
Orientation:
Minus strand

Genomic View for SLC26A1 Gene

Genes around SLC26A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC26A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC26A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC26A1 Gene

Proteins for SLC26A1 Gene

  • Protein details for SLC26A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2B4-S26A1_HUMAN
    Recommended name:
    Sulfate anion transporter 1
    Protein Accession:
    Q9H2B4
    Secondary Accessions:
    • A8K9N2
    • Q7Z5R3
    • Q96BK0

    Protein attributes for SLC26A1 Gene

    Size:
    701 amino acids
    Molecular mass:
    75016 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC26A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC26A1 Gene

Post-translational modifications for SLC26A1 Gene

  • Glycosylation at Asn158 and isoforms=2163
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC26A1 Gene

No data available for DME Specific Peptides for SLC26A1 Gene

Domains & Families for SLC26A1 Gene

Gene Families for SLC26A1 Gene

Protein Domains for SLC26A1 Gene

Suggested Antigen Peptide Sequences for SLC26A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H2B4

UniProtKB/Swiss-Prot:

S26A1_HUMAN :
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
Family:
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
genes like me logo Genes that share domains with SLC26A1: view

Function for SLC26A1 Gene

Molecular function for SLC26A1 Gene

UniProtKB/Swiss-Prot Function:
Mediates sulfate transport with high affinity (PubMed:12713736). Mediates oxalate transport (PubMed:12713736). Mediates bicarbonate transport (By similarity). Does not accept succinate as cosubstrate (By similarity).

Gene Ontology (GO) - Molecular Function for SLC26A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IBA --
GO:0008271 secondary active sulfate transmembrane transporter activity IEA --
GO:0015106 bicarbonate transmembrane transporter activity IBA --
GO:0015108 chloride transmembrane transporter activity ISS --
GO:0015116 sulfate transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC26A1: view
genes like me logo Genes that share phenotypes with SLC26A1: view

Human Phenotype Ontology for SLC26A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC26A1 Gene

MGI Knock Outs for SLC26A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC26A1

CRISPR Products

miRNA for SLC26A1 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC26A1 Gene

Localization for SLC26A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC26A1 Gene

Cell membrane; Multi-pass membrane protein. Basolateral cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC26A1 gene
Compartment Confidence
plasma membrane 5
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC26A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 11087667
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC26A1: view

Pathways & Interactions for SLC26A1 Gene

genes like me logo Genes that share pathways with SLC26A1: view

Interacting Proteins for SLC26A1 Gene

Gene Ontology (GO) - Biological Process for SLC26A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006821 chloride transport ISS --
GO:0008272 sulfate transport ISS --
GO:0015701 bicarbonate transport IBA --
genes like me logo Genes that share ontologies with SLC26A1: view

No data available for SIGNOR curated interactions for SLC26A1 Gene

Drugs & Compounds for SLC26A1 Gene

(6) Additional Compounds for SLC26A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC26A1: view

Transcripts for SLC26A1 Gene

mRNA/cDNA for SLC26A1 Gene

Unigene Clusters for SLC26A1 Gene

Solute carrier family 26 (sulfate transporter), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A1 Gene

No ASD Table

Relevant External Links for SLC26A1 Gene

GeneLoc Exon Structure for
SLC26A1
ECgene alternative splicing isoforms for
SLC26A1

Expression for SLC26A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC26A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC26A1 Gene

This gene is overexpressed in Fetal Liver (37.5), Kidney (18.6), and Fetal gut (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC26A1 Gene



Protein tissue co-expression partners for SLC26A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC26A1 Gene:

SLC26A1

SOURCE GeneReport for Unigene cluster for SLC26A1 Gene:

Hs.658244

mRNA Expression by UniProt/SwissProt for SLC26A1 Gene:

Q9H2B4-S26A1_HUMAN
Tissue specificity: Expressed most abundantly in the kidney and liver, with lower levels in the pancreas, testis, brain, small intestine, colon, and lung.

Evidence on tissue expression from TISSUES for SLC26A1 Gene

  • Kidney(4.5)
  • Liver(4.3)
  • Lung(4)
genes like me logo Genes that share expression patterns with SLC26A1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC26A1 Gene

Orthologs for SLC26A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC26A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC26A1 34 35
  • 98.43 (n)
dog
(Canis familiaris)
Mammalia SLC26A1 34 35
  • 83.79 (n)
cow
(Bos Taurus)
Mammalia SLC26A1 34 35
  • 83.74 (n)
rat
(Rattus norvegicus)
Mammalia Slc26a1 34
  • 77.7 (n)
mouse
(Mus musculus)
Mammalia Slc26a1 34 16 35
  • 77.22 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC26A1 35
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC26A1 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC26A1 35
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC26A1 35
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc26a1 35
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5485 36
  • 30 (a)
Prestin 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sulp-2 34 35
  • 40.08 (n)
W04G3.6 36
  • 33 (a)
sulp-7 35
  • 31 (a)
ManyToMany
sulp-8 35
  • 30 (a)
ManyToMany
K12G11.1 36
  • 29 (a)
K12G11.2 36
  • 29 (a)
W01B11.2 36
  • 29 (a)
ZK287.2 36
  • 29 (a)
F14D12.5 36
  • 27 (a)
sulp-5 35
  • 27 (a)
ManyToMany
sulp-4 35
  • 26 (a)
ManyToMany
sulp-3 35
  • 23 (a)
ManyToMany
sulp-6 35
  • 22 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUL1 35
  • 16 (a)
ManyToMany
SUL2 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
ManyToMany
-- 35
  • 33 (a)
ManyToMany
-- 35
  • 31 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
-- 35
  • 29 (a)
ManyToMany
Species where no ortholog for SLC26A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC26A1 Gene

ENSEMBL:
Gene Tree for SLC26A1 (if available)
TreeFam:
Gene Tree for SLC26A1 (if available)

Paralogs for SLC26A1 Gene

(12) SIMAP similar genes for SLC26A1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC26A1: view

Variants for SLC26A1 Gene

Sequence variations from dbSNP and Humsavar for SLC26A1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs139024319 Pathogenic, Nephrolithiasis, calcium oxalate (CAON) [MIM:167030] 991,150(+) TCAGC(A/G)TGAGG intron-variant, upstream-variant-2KB, reference, missense
rs142573758 Uncertain significance, Nephrolithiasis, calcium oxalate (CAON) [MIM:167030] 991,538(+) CGTGG(C/T)GGGGA intron-variant, upstream-variant-2KB, reference, missense
rs148832260 Pathogenic, Nephrolithiasis, calcium oxalate (CAON) [MIM:167030] 989,866(+) CCAGC(A/G)AGATG intron-variant, upstream-variant-2KB, reference, missense
rs121965020 Pathogenic 987,858(+) GGGAC(C/T)AGCAG intron-variant, nc-transcript-variant, reference, utr-variant-3-prime, stop-gained, utr-variant-5-prime
rs121965022 Pathogenic 987,842(+) CAGTA(A/C/T)GTCCT intron-variant, nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime, stop-gained, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC26A1 Gene

Variant ID Type Subtype PubMed ID
dgv1450e212 CNV gain 25503493
esv3599384 CNV gain 21293372
esv3599385 CNV loss 21293372
nsv1003219 CNV gain 25217958
nsv1008352 CNV gain 25217958
nsv1078530 CNV duplication 25765185
nsv4196 CNV deletion 18451855
nsv469998 CNV loss 18288195
nsv482086 CNV gain 20164927
nsv593226 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv822428 CNV gain 20364138
nsv950328 CNV deletion 24416366

Variation tolerance for SLC26A1 Gene

Residual Variation Intolerance Score: 98.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC26A1 Gene

Human Gene Mutation Database (HGMD)
SLC26A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC26A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC26A1 Gene

Disorders for SLC26A1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC26A1 Gene - From: ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrolithiasis
  • calculus of kidney and ureter
proximal renal tubular acidosis
  • renal tubular acidosis type 2
autosomal dominant nonsyndromic deafness 20
  • autosomal dominant deafness 20
cartilage disease
  • cartilage disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S26A1_HUMAN
  • Nephrolithiasis, calcium oxalate (CAON) [MIM:167030]: A form of nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system. Patients manifest acute renal colic with severe pain originating in the flank. Patients with small, non-obstructing stones or those with staghorn calculi may be asymptomatic. The majority of renal calculi contain calcium. CAON is characterized by calcium oxalate kidney stones. {ECO:0000269 PubMed:27210743}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC26A1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC26A1
genes like me logo Genes that share disorders with SLC26A1: view

No data available for Genatlas for SLC26A1 Gene

Publications for SLC26A1 Gene

  1. Characterization of the human sulfate anion transporter (hsat-1) protein and gene (SAT1; SLC26A1). (PMID: 12713736) Regeer R.R. … Markovich D. (DNA Cell Biol. 2003) 3 4 22 64
  2. Mutations in SLC26A1 Cause Nephrolithiasis. (PMID: 27210743) Gee H.Y. … Hildebrandt F. (Am. J. Hum. Genet. 2016) 3 4 64
  3. Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. (PMID: 11087667) Lohi H. … Kere J. (Genomics 2000) 3 4 64
  4. PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. (PMID: 26598620) Dart A.E. … Wells C.M. (J. Cell Biol. 2015) 3 64
  5. N-glycosylation and topology of the human SLC26 family of anion transport membrane proteins. (PMID: 24647542) Li J. … Reithmeier R.A. (Am. J. Physiol., Cell Physiol. 2014) 3 64

Products for SLC26A1 Gene

Sources for SLC26A1 Gene

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